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class="vector-toc-list"> <li id="toc-Autosomal_dominant" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Autosomal_dominant"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.1</span> <span>Autosomal dominant</span> </div> </a> <ul id="toc-Autosomal_dominant-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Autosomal_recessive" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Autosomal_recessive"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.2</span> <span>Autosomal recessive</span> </div> </a> <ul id="toc-Autosomal_recessive-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-X-linked_dominant" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#X-linked_dominant"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.3</span> <span>X-linked dominant</span> </div> </a> <ul id="toc-X-linked_dominant-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-X-linked_recessive" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#X-linked_recessive"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.4</span> <span>X-linked recessive</span> </div> </a> <ul id="toc-X-linked_recessive-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Y-linked" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Y-linked"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.5</span> <span>Y-linked</span> </div> </a> <ul id="toc-Y-linked-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Mitochondrial" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Mitochondrial"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.6</span> <span>Mitochondrial</span> </div> </a> <ul id="toc-Mitochondrial-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Multifactorial_disorder" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Multifactorial_disorder"> <div class="vector-toc-text"> <span class="vector-toc-numb">2</span> <span>Multifactorial disorder</span> </div> </a> <ul id="toc-Multifactorial_disorder-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Chromosomal_disorder" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Chromosomal_disorder"> <div class="vector-toc-text"> <span class="vector-toc-numb">3</span> <span>Chromosomal disorder</span> </div> </a> <ul id="toc-Chromosomal_disorder-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Diagnosis" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Diagnosis"> <div class="vector-toc-text"> <span class="vector-toc-numb">4</span> <span>Diagnosis</span> </div> </a> <ul id="toc-Diagnosis-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Prognosis" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Prognosis"> <div class="vector-toc-text"> <span class="vector-toc-numb">5</span> <span>Prognosis</span> </div> </a> <ul id="toc-Prognosis-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Treatment" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Treatment"> <div class="vector-toc-text"> <span class="vector-toc-numb">6</span> <span>Treatment</span> </div> </a> <ul id="toc-Treatment-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Epidemiology" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Epidemiology"> <div class="vector-toc-text"> <span class="vector-toc-numb">7</span> <span>Epidemiology</span> </div> </a> <ul id="toc-Epidemiology-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-History" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#History"> <div class="vector-toc-text"> <span class="vector-toc-numb">8</span> <span>History</span> </div> </a> <ul id="toc-History-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-See_also" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#See_also"> <div class="vector-toc-text"> <span class="vector-toc-numb">9</span> <span>See also</span> </div> </a> <ul id="toc-See_also-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-References" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#References"> <div class="vector-toc-text"> <span class="vector-toc-numb">10</span> <span>References</span> </div> </a> <ul id="toc-References-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-External_links" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#External_links"> <div class="vector-toc-text"> <span class="vector-toc-numb">11</span> <span>External links</span> </div> </a> <ul id="toc-External_links-sublist" class="vector-toc-list"> </ul> </li> </ul> </div> </div> </nav> </div> </div> <div class="mw-content-container"> <main id="content" class="mw-body"> <header class="mw-body-header vector-page-titlebar"> <nav aria-label="Contents" class="vector-toc-landmark"> <div id="vector-page-titlebar-toc" class="vector-dropdown vector-page-titlebar-toc vector-button-flush-left" > <input type="checkbox" id="vector-page-titlebar-toc-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-vector-page-titlebar-toc" class="vector-dropdown-checkbox " aria-label="Toggle the table of contents" > <label id="vector-page-titlebar-toc-label" for="vector-page-titlebar-toc-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--icon-only " aria-hidden="true" ><span class="vector-icon mw-ui-icon-listBullet mw-ui-icon-wikimedia-listBullet"></span> <span class="vector-dropdown-label-text">Toggle the table of contents</span> </label> <div class="vector-dropdown-content"> <div id="vector-page-titlebar-toc-unpinned-container" class="vector-unpinned-container"> </div> </div> </div> </nav> <h1 id="firstHeading" class="firstHeading mw-first-heading"><span class="mw-page-title-main">Genetic disorder</span></h1> <div id="p-lang-btn" class="vector-dropdown mw-portlet mw-portlet-lang" > <input type="checkbox" id="p-lang-btn-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-p-lang-btn" class="vector-dropdown-checkbox mw-interlanguage-selector" aria-label="Go to an article in another language. Available in 53 languages" > <label id="p-lang-btn-label" for="p-lang-btn-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--action-progressive mw-portlet-lang-heading-53" aria-hidden="true" ><span class="vector-icon mw-ui-icon-language-progressive mw-ui-icon-wikimedia-language-progressive"></span> <span class="vector-dropdown-label-text">53 languages</span> </label> <div class="vector-dropdown-content"> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li class="interlanguage-link interwiki-ar mw-list-item"><a href="https://ar.wikipedia.org/wiki/%D8%A7%D8%B6%D8%B7%D8%B1%D8%A7%D8%A8_%D8%AC%D9%8A%D9%86%D9%8A" title="اضطراب جيني – Arabic" lang="ar" hreflang="ar" data-title="اضطراب جيني" data-language-autonym="العربية" data-language-local-name="Arabic" class="interlanguage-link-target"><span>العربية</span></a></li><li class="interlanguage-link interwiki-az mw-list-item"><a href="https://az.wikipedia.org/wiki/Genetik_x%C9%99st%C9%99likl%C9%99r" title="Genetik xəstəliklər – Azerbaijani" lang="az" hreflang="az" data-title="Genetik xəstəliklər" data-language-autonym="Azərbaycanca" data-language-local-name="Azerbaijani" class="interlanguage-link-target"><span>Azərbaycanca</span></a></li><li class="interlanguage-link interwiki-bs mw-list-item"><a href="https://bs.wikipedia.org/wiki/Geneti%C4%8Dki_poreme%C4%87aj" title="Genetički poremećaj – Bosnian" lang="bs" hreflang="bs" data-title="Genetički poremećaj" data-language-autonym="Bosanski" data-language-local-name="Bosnian" class="interlanguage-link-target"><span>Bosanski</span></a></li><li class="interlanguage-link interwiki-ca mw-list-item"><a href="https://ca.wikipedia.org/wiki/Alteraci%C3%B3_gen%C3%A8tica" title="Alteració genètica – Catalan" lang="ca" hreflang="ca" data-title="Alteració genètica" data-language-autonym="Català" data-language-local-name="Catalan" class="interlanguage-link-target"><span>Català</span></a></li><li class="interlanguage-link interwiki-cs mw-list-item"><a href="https://cs.wikipedia.org/wiki/Genetick%C3%A1_choroba" title="Genetická choroba – Czech" lang="cs" hreflang="cs" data-title="Genetická choroba" data-language-autonym="Čeština" data-language-local-name="Czech" class="interlanguage-link-target"><span>Čeština</span></a></li><li class="interlanguage-link interwiki-cy mw-list-item"><a href="https://cy.wikipedia.org/wiki/Anhwylder_genetig" title="Anhwylder genetig – Welsh" lang="cy" hreflang="cy" data-title="Anhwylder genetig" data-language-autonym="Cymraeg" data-language-local-name="Welsh" class="interlanguage-link-target"><span>Cymraeg</span></a></li><li class="interlanguage-link interwiki-da mw-list-item"><a href="https://da.wikipedia.org/wiki/Genetiske_sygdomme" title="Genetiske sygdomme – Danish" lang="da" hreflang="da" data-title="Genetiske sygdomme" data-language-autonym="Dansk" data-language-local-name="Danish" class="interlanguage-link-target"><span>Dansk</span></a></li><li class="interlanguage-link interwiki-de mw-list-item"><a href="https://de.wikipedia.org/wiki/Erbkrankheit" title="Erbkrankheit – German" lang="de" hreflang="de" data-title="Erbkrankheit" data-language-autonym="Deutsch" data-language-local-name="German" class="interlanguage-link-target"><span>Deutsch</span></a></li><li class="interlanguage-link interwiki-et mw-list-item"><a href="https://et.wikipedia.org/wiki/Geneetiline_h%C3%A4ire" title="Geneetiline häire – Estonian" lang="et" hreflang="et" data-title="Geneetiline häire" data-language-autonym="Eesti" data-language-local-name="Estonian" class="interlanguage-link-target"><span>Eesti</span></a></li><li class="interlanguage-link interwiki-el mw-list-item"><a href="https://el.wikipedia.org/wiki/%CE%93%CE%B5%CE%BD%CE%B5%CF%84%CE%B9%CE%BA%CE%AE_%CE%B4%CE%B9%CE%B1%CF%84%CE%B1%CF%81%CE%B1%CF%87%CE%AE" title="Γενετική διαταραχή – Greek" lang="el" hreflang="el" data-title="Γενετική διαταραχή" data-language-autonym="Ελληνικά" data-language-local-name="Greek" class="interlanguage-link-target"><span>Ελληνικά</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/Enfermedad_gen%C3%A9tica" title="Enfermedad genética – Spanish" lang="es" hreflang="es" data-title="Enfermedad genética" data-language-autonym="Español" data-language-local-name="Spanish" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-eo mw-list-item"><a href="https://eo.wikipedia.org/wiki/Genetika_malsano" title="Genetika malsano – Esperanto" lang="eo" hreflang="eo" data-title="Genetika malsano" data-language-autonym="Esperanto" data-language-local-name="Esperanto" class="interlanguage-link-target"><span>Esperanto</span></a></li><li class="interlanguage-link interwiki-eu mw-list-item"><a href="https://eu.wikipedia.org/wiki/Gaixotasun_genetiko" title="Gaixotasun genetiko – Basque" lang="eu" hreflang="eu" data-title="Gaixotasun genetiko" data-language-autonym="Euskara" data-language-local-name="Basque" class="interlanguage-link-target"><span>Euskara</span></a></li><li class="interlanguage-link interwiki-fa mw-list-item"><a href="https://fa.wikipedia.org/wiki/%D9%86%D8%A7%D9%87%D9%86%D8%AC%D8%A7%D8%B1%DB%8C_%DA%98%D9%86%D8%AA%DB%8C%DA%A9%DB%8C" title="ناهنجاری ژنتیکی – Persian" lang="fa" hreflang="fa" data-title="ناهنجاری ژنتیکی" data-language-autonym="فارسی" data-language-local-name="Persian" class="interlanguage-link-target"><span>فارسی</span></a></li><li class="interlanguage-link interwiki-fr mw-list-item"><a href="https://fr.wikipedia.org/wiki/Maladie_g%C3%A9n%C3%A9tique" title="Maladie génétique – French" lang="fr" hreflang="fr" data-title="Maladie génétique" data-language-autonym="Français" data-language-local-name="French" class="interlanguage-link-target"><span>Français</span></a></li><li class="interlanguage-link interwiki-gl mw-list-item"><a href="https://gl.wikipedia.org/wiki/Doenza_xen%C3%A9tica" title="Doenza xenética – Galician" lang="gl" hreflang="gl" data-title="Doenza xenética" data-language-autonym="Galego" data-language-local-name="Galician" class="interlanguage-link-target"><span>Galego</span></a></li><li class="interlanguage-link interwiki-ko mw-list-item"><a href="https://ko.wikipedia.org/wiki/%EC%9C%A0%EC%A0%84_%EC%A7%88%ED%99%98" title="유전 질환 – Korean" lang="ko" hreflang="ko" data-title="유전 질환" data-language-autonym="한국어" data-language-local-name="Korean" class="interlanguage-link-target"><span>한국어</span></a></li><li class="interlanguage-link interwiki-ha mw-list-item"><a href="https://ha.wikipedia.org/wiki/Ciwon_Kwayoyin_Halitta" title="Ciwon Kwayoyin Halitta – Hausa" lang="ha" hreflang="ha" data-title="Ciwon Kwayoyin Halitta" data-language-autonym="Hausa" data-language-local-name="Hausa" class="interlanguage-link-target"><span>Hausa</span></a></li><li class="interlanguage-link interwiki-hy mw-list-item"><a href="https://hy.wikipedia.org/wiki/%D4%B3%D5%A5%D5%B6%D5%A5%D5%BF%D5%AB%D5%AF_%D5%B0%D5%AB%D5%BE%D5%A1%D5%B6%D5%A4%D5%B8%D6%82%D5%A9%D5%B5%D5%B8%D6%82%D5%B6%D5%B6%D5%A5%D6%80" title="Գենետիկ հիվանդություններ – Armenian" lang="hy" hreflang="hy" data-title="Գենետիկ հիվանդություններ" data-language-autonym="Հայերեն" data-language-local-name="Armenian" class="interlanguage-link-target"><span>Հայերեն</span></a></li><li class="interlanguage-link interwiki-hi mw-list-item"><a href="https://hi.wikipedia.org/wiki/%E0%A4%86%E0%A4%A8%E0%A5%81%E0%A4%B5%E0%A4%82%E0%A4%B6%E0%A4%BF%E0%A4%95_%E0%A4%B0%E0%A5%8B%E0%A4%97" title="आनुवंशिक रोग – Hindi" lang="hi" hreflang="hi" data-title="आनुवंशिक रोग" data-language-autonym="हिन्दी" data-language-local-name="Hindi" class="interlanguage-link-target"><span>हिन्दी</span></a></li><li class="interlanguage-link interwiki-id mw-list-item"><a href="https://id.wikipedia.org/wiki/Penyakit_genetik" title="Penyakit genetik – Indonesian" lang="id" hreflang="id" data-title="Penyakit genetik" data-language-autonym="Bahasa Indonesia" data-language-local-name="Indonesian" class="interlanguage-link-target"><span>Bahasa Indonesia</span></a></li><li class="interlanguage-link interwiki-it mw-list-item"><a href="https://it.wikipedia.org/wiki/Malattia_genetica" title="Malattia genetica – Italian" lang="it" hreflang="it" data-title="Malattia genetica" data-language-autonym="Italiano" data-language-local-name="Italian" class="interlanguage-link-target"><span>Italiano</span></a></li><li class="interlanguage-link interwiki-he mw-list-item"><a href="https://he.wikipedia.org/wiki/%D7%A4%D7%92%D7%9D_%D7%92%D7%A0%D7%98%D7%99" title="פגם גנטי – Hebrew" lang="he" hreflang="he" data-title="פגם גנטי" data-language-autonym="עברית" data-language-local-name="Hebrew" class="interlanguage-link-target"><span>עברית</span></a></li><li class="interlanguage-link interwiki-kn mw-list-item"><a href="https://kn.wikipedia.org/wiki/%E0%B2%85%E0%B2%A8%E0%B3%81%E0%B2%B5%E0%B2%82%E0%B2%B6%E0%B2%BF%E0%B2%95_%E0%B2%95%E0%B2%BE%E0%B2%AF%E0%B2%BF%E0%B2%B2%E0%B3%86%E0%B2%97%E0%B2%B3%E0%B3%81" title="ಅನುವಂಶಿಕ ಕಾಯಿಲೆಗಳು – Kannada" lang="kn" hreflang="kn" data-title="ಅನುವಂಶಿಕ ಕಾಯಿಲೆಗಳು" data-language-autonym="ಕನ್ನಡ" data-language-local-name="Kannada" class="interlanguage-link-target"><span>ಕನ್ನಡ</span></a></li><li class="interlanguage-link interwiki-lt mw-list-item"><a href="https://lt.wikipedia.org/wiki/Genetin%C4%97_liga" title="Genetinė liga – Lithuanian" lang="lt" hreflang="lt" data-title="Genetinė liga" data-language-autonym="Lietuvių" data-language-local-name="Lithuanian" class="interlanguage-link-target"><span>Lietuvių</span></a></li><li class="interlanguage-link interwiki-hu mw-list-item"><a href="https://hu.wikipedia.org/wiki/Genetikai_betegs%C3%A9g" title="Genetikai betegség – Hungarian" lang="hu" hreflang="hu" data-title="Genetikai betegség" data-language-autonym="Magyar" data-language-local-name="Hungarian" class="interlanguage-link-target"><span>Magyar</span></a></li><li class="interlanguage-link interwiki-mk mw-list-item"><a href="https://mk.wikipedia.org/wiki/%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D1%81%D0%BA%D0%BE_%D0%BD%D0%B0%D1%80%D1%83%D1%88%D1%83%D0%B2%D0%B0%D1%9A%D0%B5" title="Генетско нарушување – Macedonian" lang="mk" hreflang="mk" data-title="Генетско нарушување" data-language-autonym="Македонски" data-language-local-name="Macedonian" class="interlanguage-link-target"><span>Македонски</span></a></li><li class="interlanguage-link interwiki-ml mw-list-item"><a href="https://ml.wikipedia.org/wiki/%E0%B4%AA%E0%B4%BE%E0%B4%B0%E0%B4%AE%E0%B5%8D%E0%B4%AA%E0%B4%B0%E0%B5%8D%E0%B4%AF%E0%B4%B0%E0%B5%8B%E0%B4%97%E0%B4%99%E0%B5%8D%E0%B4%99%E0%B5%BE" title="പാരമ്പര്യരോഗങ്ങൾ – Malayalam" lang="ml" hreflang="ml" data-title="പാരമ്പര്യരോഗങ്ങൾ" data-language-autonym="മലയാളം" data-language-local-name="Malayalam" class="interlanguage-link-target"><span>മലയാളം</span></a></li><li class="interlanguage-link interwiki-ms mw-list-item"><a href="https://ms.wikipedia.org/wiki/Gangguan_genetik" title="Gangguan genetik – Malay" lang="ms" hreflang="ms" data-title="Gangguan genetik" data-language-autonym="Bahasa Melayu" data-language-local-name="Malay" class="interlanguage-link-target"><span>Bahasa Melayu</span></a></li><li class="interlanguage-link interwiki-mn mw-list-item"><a href="https://mn.wikipedia.org/wiki/%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D0%BA_%D3%A9%D0%B2%D1%87%D0%B8%D0%BD" title="Генетик өвчин – Mongolian" lang="mn" hreflang="mn" data-title="Генетик өвчин" data-language-autonym="Монгол" data-language-local-name="Mongolian" class="interlanguage-link-target"><span>Монгол</span></a></li><li class="interlanguage-link interwiki-nl mw-list-item"><a href="https://nl.wikipedia.org/wiki/Erfelijke_aandoening" title="Erfelijke aandoening – Dutch" lang="nl" hreflang="nl" data-title="Erfelijke aandoening" data-language-autonym="Nederlands" data-language-local-name="Dutch" class="interlanguage-link-target"><span>Nederlands</span></a></li><li class="interlanguage-link interwiki-ja mw-list-item"><a href="https://ja.wikipedia.org/wiki/%E9%81%BA%E4%BC%9D%E5%AD%90%E7%96%BE%E6%82%A3" title="遺伝子疾患 – Japanese" lang="ja" hreflang="ja" data-title="遺伝子疾患" data-language-autonym="日本語" data-language-local-name="Japanese" class="interlanguage-link-target"><span>日本語</span></a></li><li class="interlanguage-link interwiki-ps mw-list-item"><a href="https://ps.wikipedia.org/wiki/%D8%AC%D9%86%D9%8A%D9%BC%D9%8A%DA%A9%D9%8A_%D9%86%D8%A7%D8%B1%D9%88%D8%BA%D9%8A_(%D9%85%D9%8A%D8%B1%D8%A7%D8%AB%D9%8A_%D8%A7%D8%AE%D8%AA%D9%84%D8%A7%D9%84)" title="جنيټيکي ناروغي (ميراثي اختلال) – Pashto" lang="ps" hreflang="ps" data-title="جنيټيکي ناروغي (ميراثي اختلال)" data-language-autonym="پښتو" data-language-local-name="Pashto" class="interlanguage-link-target"><span>پښتو</span></a></li><li class="interlanguage-link interwiki-pl badge-Q17437798 badge-goodarticle mw-list-item" title="good article badge"><a href="https://pl.wikipedia.org/wiki/Choroby_genetyczne_cz%C5%82owieka" title="Choroby genetyczne człowieka – Polish" lang="pl" hreflang="pl" data-title="Choroby genetyczne człowieka" data-language-autonym="Polski" data-language-local-name="Polish" class="interlanguage-link-target"><span>Polski</span></a></li><li class="interlanguage-link interwiki-pt mw-list-item"><a href="https://pt.wikipedia.org/wiki/Doen%C3%A7a_gen%C3%A9tica" title="Doença genética – Portuguese" lang="pt" hreflang="pt" data-title="Doença genética" data-language-autonym="Português" data-language-local-name="Portuguese" class="interlanguage-link-target"><span>Português</span></a></li><li class="interlanguage-link interwiki-ro mw-list-item"><a href="https://ro.wikipedia.org/wiki/Boal%C4%83_genetic%C4%83" title="Boală genetică – Romanian" lang="ro" hreflang="ro" data-title="Boală genetică" data-language-autonym="Română" data-language-local-name="Romanian" class="interlanguage-link-target"><span>Română</span></a></li><li class="interlanguage-link interwiki-ru mw-list-item"><a href="https://ru.wikipedia.org/wiki/%D0%93%D0%B5%D0%BD%D0%BD%D1%8B%D0%B5_%D0%B1%D0%BE%D0%BB%D0%B5%D0%B7%D0%BD%D0%B8" title="Генные болезни – Russian" lang="ru" hreflang="ru" data-title="Генные болезни" data-language-autonym="Русский" data-language-local-name="Russian" class="interlanguage-link-target"><span>Русский</span></a></li><li class="interlanguage-link interwiki-sco mw-list-item"><a href="https://sco.wikipedia.org/wiki/Genetic_disorder" title="Genetic disorder – Scots" lang="sco" hreflang="sco" data-title="Genetic disorder" data-language-autonym="Scots" data-language-local-name="Scots" class="interlanguage-link-target"><span>Scots</span></a></li><li class="interlanguage-link interwiki-sq mw-list-item"><a href="https://sq.wikipedia.org/wiki/%C3%87rregullimi_gjenetik" title="Çrregullimi gjenetik – Albanian" lang="sq" hreflang="sq" data-title="Çrregullimi gjenetik" data-language-autonym="Shqip" data-language-local-name="Albanian" class="interlanguage-link-target"><span>Shqip</span></a></li><li class="interlanguage-link interwiki-si mw-list-item"><a href="https://si.wikipedia.org/wiki/%E0%B6%B4%E0%B7%8A%E2%80%8D%E0%B6%BB%E0%B7%80%E0%B7%9A%E0%B6%AB%E0%B7%92_%E0%B6%86%E0%B6%B6%E0%B7%8F%E0%B6%B0" title="ප්‍රවේණි ආබාධ – Sinhala" lang="si" hreflang="si" data-title="ප්‍රවේණි ආබාධ" data-language-autonym="සිංහල" data-language-local-name="Sinhala" class="interlanguage-link-target"><span>සිංහල</span></a></li><li class="interlanguage-link interwiki-simple mw-list-item"><a href="https://simple.wikipedia.org/wiki/Genetic_disorder" title="Genetic disorder – Simple English" lang="en-simple" hreflang="en-simple" data-title="Genetic disorder" data-language-autonym="Simple English" data-language-local-name="Simple English" class="interlanguage-link-target"><span>Simple English</span></a></li><li class="interlanguage-link interwiki-ckb mw-list-item"><a href="https://ckb.wikipedia.org/wiki/%D8%AA%DB%8E%DA%A9%DA%86%D9%88%D9%88%D9%86%DB%8C_%D8%A8%DB%86%D9%85%D8%A7%D9%88%DB%95%DB%8C%DB%8C" title="تێکچوونی بۆماوەیی – Central Kurdish" lang="ckb" hreflang="ckb" data-title="تێکچوونی بۆماوەیی" data-language-autonym="کوردی" data-language-local-name="Central Kurdish" class="interlanguage-link-target"><span>کوردی</span></a></li><li class="interlanguage-link interwiki-su mw-list-item"><a href="https://su.wikipedia.org/wiki/Cacad_g%C3%A9n%C3%A9tik" title="Cacad génétik – Sundanese" lang="su" hreflang="su" data-title="Cacad génétik" data-language-autonym="Sunda" data-language-local-name="Sundanese" class="interlanguage-link-target"><span>Sunda</span></a></li><li class="interlanguage-link interwiki-fi mw-list-item"><a href="https://fi.wikipedia.org/wiki/Perinn%C3%B6llinen_sairaus" title="Perinnöllinen sairaus – Finnish" lang="fi" hreflang="fi" data-title="Perinnöllinen sairaus" data-language-autonym="Suomi" data-language-local-name="Finnish" class="interlanguage-link-target"><span>Suomi</span></a></li><li class="interlanguage-link interwiki-sv mw-list-item"><a href="https://sv.wikipedia.org/wiki/Genetisk_avvikelse" title="Genetisk avvikelse – Swedish" lang="sv" hreflang="sv" data-title="Genetisk avvikelse" data-language-autonym="Svenska" data-language-local-name="Swedish" class="interlanguage-link-target"><span>Svenska</span></a></li><li class="interlanguage-link interwiki-tl mw-list-item"><a href="https://tl.wikipedia.org/wiki/Diperensiyang_henetiko" title="Diperensiyang henetiko – Tagalog" lang="tl" hreflang="tl" data-title="Diperensiyang henetiko" data-language-autonym="Tagalog" data-language-local-name="Tagalog" class="interlanguage-link-target"><span>Tagalog</span></a></li><li class="interlanguage-link interwiki-ta mw-list-item"><a href="https://ta.wikipedia.org/wiki/%E0%AE%AE%E0%AE%B0%E0%AE%AA%E0%AE%A3%E0%AF%81%E0%AE%AA%E0%AF%8D_%E0%AE%AA%E0%AE%BF%E0%AE%B1%E0%AE%B4%E0%AF%8D%E0%AE%9A%E0%AF%8D%E0%AE%9A%E0%AE%BF" title="மரபணுப் பிறழ்ச்சி – Tamil" lang="ta" hreflang="ta" data-title="மரபணுப் பிறழ்ச்சி" data-language-autonym="தமிழ்" data-language-local-name="Tamil" class="interlanguage-link-target"><span>தமிழ்</span></a></li><li class="interlanguage-link interwiki-th mw-list-item"><a href="https://th.wikipedia.org/wiki/%E0%B9%82%E0%B8%A3%E0%B8%84%E0%B8%97%E0%B8%B2%E0%B8%87%E0%B8%9E%E0%B8%B1%E0%B8%99%E0%B8%98%E0%B8%B8%E0%B8%81%E0%B8%A3%E0%B8%A3%E0%B8%A1" title="โรคทางพันธุกรรม – Thai" lang="th" hreflang="th" data-title="โรคทางพันธุกรรม" data-language-autonym="ไทย" data-language-local-name="Thai" class="interlanguage-link-target"><span>ไทย</span></a></li><li class="interlanguage-link interwiki-tr mw-list-item"><a href="https://tr.wikipedia.org/wiki/Genetik_bozukluk" title="Genetik bozukluk – Turkish" lang="tr" 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disease</a>)</span></div></div> <div id="mw-content-text" class="mw-body-content"><div class="mw-content-ltr mw-parser-output" lang="en" dir="ltr"><div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Health problem caused by one or more abnormalities in the genome</div> <p class="mw-empty-elt"> </p> <style data-mw-deduplicate="TemplateStyles:r1236090951">.mw-parser-output .hatnote{font-style:italic}.mw-parser-output div.hatnote{padding-left:1.6em;margin-bottom:0.5em}.mw-parser-output .hatnote i{font-style:normal}.mw-parser-output .hatnote+link+.hatnote{margin-top:-0.5em}@media print{body.ns-0 .mw-parser-output .hatnote{display:none!important}}</style><div role="note" class="hatnote navigation-not-searchable">For a list of genetic disorders, see <a href="/wiki/List_of_genetic_disorders" title="List of genetic disorders">List of genetic disorders</a>.</div> <div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Medical condition</div><style data-mw-deduplicate="TemplateStyles:r1257001546">.mw-parser-output .infobox-subbox{padding:0;border:none;margin:-3px;width:auto;min-width:100%;font-size:100%;clear:none;float:none;background-color:transparent}.mw-parser-output .infobox-3cols-child{margin:auto}.mw-parser-output .infobox .navbar{font-size:100%}@media screen{html.skin-theme-clientpref-night .mw-parser-output .infobox-full-data:not(.notheme)>div:not(.notheme)[style]{background:#1f1f23!important;color:#f8f9fa}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .infobox-full-data:not(.notheme) div:not(.notheme){background:#1f1f23!important;color:#f8f9fa}}@media(min-width:640px){body.skin--responsive .mw-parser-output .infobox-table{display:table!important}body.skin--responsive .mw-parser-output .infobox-table>caption{display:table-caption!important}body.skin--responsive .mw-parser-output .infobox-table>tbody{display:table-row-group}body.skin--responsive .mw-parser-output .infobox-table tr{display:table-row!important}body.skin--responsive .mw-parser-output .infobox-table th,body.skin--responsive .mw-parser-output .infobox-table td{padding-left:inherit;padding-right:inherit}}</style><table class="infobox ib-medical-condition"><tbody><tr><th colspan="2" class="infobox-above" style="background:#ccc">Genetic disorder</th></tr><tr style="background-color: #f8f9fa;"><td colspan="2" class="infobox-full-data"><span typeof="mw:File"><a href="/wiki/File:Human_chromosome_diseases_set_en.svg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/8/84/Human_chromosome_diseases_set_en.svg/320px-Human_chromosome_diseases_set_en.svg.png" decoding="async" width="320" height="266" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/8/84/Human_chromosome_diseases_set_en.svg/480px-Human_chromosome_diseases_set_en.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/8/84/Human_chromosome_diseases_set_en.svg/640px-Human_chromosome_diseases_set_en.svg.png 2x" data-file-width="512" data-file-height="425" /></a></span></td></tr><tr><td colspan="2" class="infobox-full-data">Diagram featuring examples of a disease located on each chromosome</td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_specialty" title="Medical specialty">Specialty</a></th><td class="infobox-data"><a href="/wiki/Medical_genetics" title="Medical genetics">Medical genetics</a></td></tr></tbody></table> <p>A <b>genetic disorder</b> is a health problem caused by one or more abnormalities in the <a href="/wiki/Genome" title="Genome">genome</a>. It can be caused by a <a href="/wiki/Mutation" title="Mutation">mutation</a> in a single <a href="/wiki/Gene" title="Gene">gene</a> (monogenic) or multiple genes (polygenic) or by a <a href="/wiki/Chromosome_abnormality" title="Chromosome abnormality">chromosome abnormality</a>. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or <a href="/wiki/Chromosome" title="Chromosome">chromosome</a>.<sup id="cite_ref-1" class="reference"><a href="#cite_note-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-2" class="reference"><a href="#cite_note-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> The mutation responsible can occur spontaneously before <a href="/wiki/Embryonic_development" class="mw-redirect" title="Embryonic development">embryonic development</a> (a <i>de novo</i> mutation), or it can be <a href="/wiki/Heredity" title="Heredity">inherited</a> from two parents who are carriers of a faulty gene (<a href="/wiki/Autosomal_recessive" class="mw-redirect" title="Autosomal recessive">autosomal recessive</a> inheritance) or from a parent with the disorder (<a href="/wiki/Autosomal_dominant" class="mw-redirect" title="Autosomal dominant">autosomal dominant</a> inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a <b>hereditary disease</b>. Some disorders are caused by a mutation on the <a href="/wiki/X_chromosome" title="X chromosome">X chromosome</a> and have <a href="/wiki/X-linked" class="mw-redirect" title="X-linked">X-linked</a> inheritance. Very few disorders are inherited on the <a href="/wiki/Y_linkage" title="Y linkage">Y chromosome</a> or <a href="/wiki/Mitochondrial_disease#Causes" title="Mitochondrial disease">mitochondrial DNA</a> (due to their size).<sup id="cite_ref-3" class="reference"><a href="#cite_note-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> </p><p>There are well over 6,000 known genetic disorders,<sup id="cite_ref-:0_4-0" class="reference"><a href="#cite_note-:0-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> and new genetic disorders are constantly being described in medical literature.<sup id="cite_ref-:1_5-0" class="reference"><a href="#cite_note-:1-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> More than 600 genetic disorders are treatable.<sup id="cite_ref-6" class="reference"><a href="#cite_note-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> Around 1 in 50 people are affected by a known single-gene disorder, while around 1 in 263 are affected by a <a href="/wiki/Chromosomal_disorder" class="mw-redirect" title="Chromosomal disorder">chromosomal disorder</a>.<sup id="cite_ref-:2_7-0" class="reference"><a href="#cite_note-:2-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> Around 65% of people have some kind of health problem as a result of congenital genetic mutations.<sup id="cite_ref-:2_7-1" class="reference"><a href="#cite_note-:2-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> Due to the significantly large number of genetic disorders, approximately 1 in 21 people are affected by a genetic disorder classified as "<a href="/wiki/Rare_disease" title="Rare disease">rare</a>" (usually defined as affecting less than 1 in 2,000 people). Most genetic disorders are rare in themselves.<sup id="cite_ref-:1_5-1" class="reference"><a href="#cite_note-:1-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:3_8-0" class="reference"><a href="#cite_note-:3-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> </p><p>Genetic disorders are present before birth, and some genetic disorders produce <a href="/wiki/Birth_defect" title="Birth defect">birth defects</a>, but birth defects can also be <a href="/wiki/Developmental_disorder" title="Developmental disorder">developmental</a> rather than <a href="/wiki/Heredity" title="Heredity">hereditary</a>. The opposite of a hereditary disease is an <a href="/wiki/Disease#Concepts" title="Disease">acquired disease</a>. Most <a href="/wiki/Cancers" class="mw-redirect" title="Cancers">cancers</a>, although they involve genetic mutations to a small proportion of cells in the body, are acquired diseases. Some <a href="/wiki/Cancer_syndromes" class="mw-redirect" title="Cancer syndromes">cancer syndromes</a>, however, such as <a href="/wiki/BRCA_mutation" title="BRCA mutation"><i>BRCA</i> mutations</a>, are hereditary genetic disorders.<sup id="cite_ref-9" class="reference"><a href="#cite_note-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Single-gene"><span class="anchor" id="Single_gene_disorder"></span>Single-gene</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetic_disorder&action=edit&section=1" title="Edit section: Single-gene"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <table class="wikitable" align="right" style="margin-left:10px;"> <caption>Prevalence of some single-gene disorders<sup id="cite_ref-10" class="reference"><a href="#cite_note-10"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> </caption> <tbody><tr> <th colspan="2">Disorder prevalence (approximate) </th></tr> <tr> <th colspan="2">Autosomal dominant </th></tr> <tr> <td><a href="/wiki/Familial_hypercholesterolemia" title="Familial hypercholesterolemia">Familial hypercholesterolemia</a> </td> <td>1 in 500<sup id="cite_ref-11" class="reference"><a href="#cite_note-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> </td></tr> <tr> <td><a href="/w/index.php?title=Myotonic_dystrophy_type_1&action=edit&redlink=1" class="new" title="Myotonic dystrophy type 1 (page does not exist)">Myotonic dystrophy type 1</a> </td> <td>1 in 2,100<sup id="cite_ref-12" class="reference"><a href="#cite_note-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> </td></tr> <tr> <td><a href="/wiki/Neurofibromatosis_type_i" class="mw-redirect" title="Neurofibromatosis type i">Neurofibromatosis type I</a> </td> <td>1 in 2,500<sup id="cite_ref-13" class="reference"><a href="#cite_note-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> </td></tr> <tr> <td><a href="/wiki/Hereditary_spherocytosis" title="Hereditary spherocytosis">Hereditary spherocytosis</a> </td> <td>1 in 5,000 </td></tr> <tr> <td><a href="/wiki/Marfan_syndrome" title="Marfan syndrome">Marfan syndrome</a> </td> <td>1 in 4,000<sup id="cite_ref-PMID18506019_14-0" class="reference"><a href="#cite_note-PMID18506019-14"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup> </td></tr> <tr> <td><a href="/wiki/Huntington%27s_disease" title="Huntington's disease">Huntington's disease</a> </td> <td>1 in 15,000<sup id="cite_ref-lancet221_15-0" class="reference"><a href="#cite_note-lancet221-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> </td></tr> <tr> <th colspan="2">Autosomal recessive </th></tr> <tr> <td><a href="/wiki/Sickle_cell_anaemia" class="mw-redirect" title="Sickle cell anaemia">Sickle cell anaemia</a> </td> <td>1 in 625<sup id="cite_ref-16" class="reference"><a href="#cite_note-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> </td></tr> <tr> <td><a href="/wiki/Cystic_fibrosis" title="Cystic fibrosis">Cystic fibrosis</a> </td> <td>1 in 2,000 </td></tr> <tr> <td><a href="/wiki/Tay%E2%80%93Sachs_disease" title="Tay–Sachs disease">Tay–Sachs disease</a> </td> <td>1 in 3,000 </td></tr> <tr> <td><a href="/wiki/Phenylketonuria" title="Phenylketonuria">Phenylketonuria</a> </td> <td>1 in 12,000 </td></tr> <tr> <td><a href="/wiki/Autosomal_recessive_polycystic_kidney_disease" title="Autosomal recessive polycystic kidney disease">Autosomal recessive polycystic kidney disease</a> </td> <td>1 in 20,000<sup id="cite_ref-Swanson_2021_p._17-0" class="reference"><a href="#cite_note-Swanson_2021_p.-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> </td></tr> <tr> <td><a href="/wiki/Mucopolysaccharidosis" title="Mucopolysaccharidosis">Mucopolysaccharidoses</a> </td> <td>1 in 25,000 </td></tr> <tr> <td><a href="/wiki/Lysosomal_acid_lipase_deficiency" title="Lysosomal acid lipase deficiency">Lysosomal acid lipase deficiency</a> </td> <td>1 in 40,000 </td></tr> <tr> <td><a href="/wiki/Glycogen_storage_disease" title="Glycogen storage disease">Glycogen storage diseases</a> </td> <td>1 in 50,000 </td></tr> <tr> <td><a href="/wiki/Galactosemia" title="Galactosemia">Galactosemia</a> </td> <td>1 in 57,000 </td></tr> <tr> <th colspan="2">X-linked </th></tr> <tr> <td><a href="/wiki/Duchenne_muscular_dystrophy" title="Duchenne muscular dystrophy">Duchenne muscular dystrophy</a> </td> <td>1 in 5,000 </td></tr> <tr> <td><a href="/wiki/Hemophilia" class="mw-redirect" title="Hemophilia">Hemophilia</a> </td> <td>1 in 10,000 </td></tr> <tr> <td colspan="2"><span style="font-size:87%;"> Values are for liveborn infants</span> </td></tr></tbody></table> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236090951"><div role="note" class="hatnote navigation-not-searchable">See also: <a href="/wiki/Oligogenic_inheritance" title="Oligogenic inheritance">Oligogenic inheritance</a> and <a href="/wiki/Polygenic_inheritance" class="mw-redirect" title="Polygenic inheritance">Polygenic inheritance</a></div> <p>A <b>single-gene disorder</b> (or <b>monogenic disorder</b>) is the result of a single <a href="/wiki/Mutation" title="Mutation">mutated</a> gene. Single-gene disorders can be passed on to subsequent generations in several ways. <a href="/wiki/Genomic_imprinting" title="Genomic imprinting">Genomic imprinting</a> and <a href="/wiki/Uniparental_disomy" title="Uniparental disomy">uniparental disomy</a>, however, may affect inheritance patterns. The divisions between <a href="/wiki/Dominance_(genetics)" title="Dominance (genetics)">recessive and dominant</a> types are not "hard and fast", although the divisions between <a href="/wiki/Autosome" title="Autosome">autosomal</a> and <a href="/wiki/Sex_linkage" title="Sex linkage">X-linked</a> types are (since the latter types are distinguished purely based on the chromosomal location of the gene). For example, the common form of <a href="/wiki/Dwarfism" title="Dwarfism">dwarfism</a>, <a href="/wiki/Achondroplasia" title="Achondroplasia">achondroplasia</a>, is typically considered a dominant disorder, but children with two genes for achondroplasia have a severe and usually lethal skeletal disorder, one that achondroplasics could be considered carriers for. <a href="/wiki/Sickle_cell_disease" title="Sickle cell disease">Sickle cell anemia</a> is also considered a recessive condition, but <a href="/wiki/Zygosity#Heterozygous" title="Zygosity">heterozygous</a> carriers have increased resistance to <a href="/wiki/Malaria" title="Malaria">malaria</a> in early childhood, which could be described as a related dominant condition.<sup id="cite_ref-Williams_18-0" class="reference"><a href="#cite_note-Williams-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup> When a couple where one partner or both are affected or carriers of a single-gene disorder wish to have a child, they can do so through <i>in vitro</i> fertilization, which enables preimplantation genetic diagnosis to occur to check whether the embryo has the genetic disorder.<sup id="cite_ref-pmid15758612_19-0" class="reference"><a href="#cite_note-pmid15758612-19"><span class="cite-bracket">[</span>19<span class="cite-bracket">]</span></a></sup> </p><p>Most congenital <a href="/wiki/Metabolism" title="Metabolism">metabolic</a> disorders known as <a href="/wiki/Inborn_errors_of_metabolism" title="Inborn errors of metabolism">inborn errors of metabolism</a> result from single-gene defects. Many such single-gene defects can decrease the fitness of affected people and are therefore present in the population in lower frequencies compared to what would be expected based on simple probabilistic calculations.<sup id="cite_ref-20" class="reference"><a href="#cite_note-20"><span class="cite-bracket">[</span>20<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Autosomal_dominant">Autosomal dominant</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetic_disorder&action=edit&section=2" title="Edit section: Autosomal dominant"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236090951"><div role="note" class="hatnote navigation-not-searchable">Main article: <a href="/wiki/Autosomal_dominant#Autosomal_dominant_gene" class="mw-redirect" title="Autosomal dominant">Autosomal dominant § Autosomal dominant gene</a></div> <p>Only one mutated copy of the gene will be necessary for a person to be affected by an autosomal dominant disorder. Each affected person usually has one affected parent.<sup id="cite_ref-Griffiths_21-0" class="reference"><a href="#cite_note-Griffiths-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup><sup class="reference nowrap"><span title="Page / location: 57">: 57 </span></sup> The chance a child will inherit the mutated gene is 50%. Autosomal dominant conditions sometimes have reduced <a href="/wiki/Penetrance" title="Penetrance">penetrance</a>, which means although only one mutated copy is needed, not all individuals who inherit that mutation go on to develop the disease. Examples of this type of disorder are <a href="/wiki/Huntington%27s_disease" title="Huntington's disease">Huntington's disease</a>,<sup id="cite_ref-Griffiths_21-1" class="reference"><a href="#cite_note-Griffiths-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup><sup class="reference nowrap"><span title="Page / location: 58">: 58 </span></sup> <a href="/wiki/Neurofibromatosis_type_1" class="mw-redirect" title="Neurofibromatosis type 1">neurofibromatosis type 1</a>, <a href="/wiki/Neurofibromatosis_type_2" class="mw-redirect" title="Neurofibromatosis type 2">neurofibromatosis type 2</a>, <a href="/wiki/Marfan_syndrome" title="Marfan syndrome">Marfan syndrome</a>, <a href="/wiki/Hereditary_nonpolyposis_colorectal_cancer" title="Hereditary nonpolyposis colorectal cancer">hereditary nonpolyposis colorectal cancer</a>, <a href="/wiki/Hereditary_multiple_exostoses" title="Hereditary multiple exostoses">hereditary multiple exostoses</a> (a highly penetrant autosomal dominant disorder), <a href="/wiki/Tuberous_sclerosis" title="Tuberous sclerosis">tuberous sclerosis</a>, <a href="/wiki/Von_Willebrand_disease" title="Von Willebrand disease">Von Willebrand disease</a>, and <a href="/wiki/Acute_intermittent_porphyria" title="Acute intermittent porphyria">acute intermittent porphyria</a>. Birth defects are also called congenital anomalies.<sup id="cite_ref-22" class="reference"><a href="#cite_note-22"><span class="cite-bracket">[</span>22<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Autosomal_recessive">Autosomal recessive</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetic_disorder&action=edit&section=3" title="Edit section: Autosomal recessive"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236090951"><div role="note" class="hatnote navigation-not-searchable">Main article: <a href="/wiki/Autosomal_dominant#Autosomal_recessive_allele" class="mw-redirect" title="Autosomal dominant">Autosomal dominant § Autosomal recessive allele</a></div> <p>Two copies of the gene must be mutated for a person to be affected by an autosomal recessive disorder. An affected person usually has unaffected parents who each carry a single copy of the mutated gene and are referred to as <a href="/wiki/Genetic_carrier" class="mw-redirect" title="Genetic carrier">genetic carriers</a>. Each parent with a defective gene normally do not have symptoms.<sup id="cite_ref-23" class="reference"><a href="#cite_note-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> Two unaffected people who each carry one copy of the mutated gene have a 25% risk with each pregnancy of having a child affected by the disorder. Examples of this type of disorder are <a href="/wiki/Albinism" title="Albinism">albinism</a>, <a href="/wiki/Medium-chain_acyl-CoA_dehydrogenase_deficiency" class="mw-redirect" title="Medium-chain acyl-CoA dehydrogenase deficiency">medium-chain acyl-CoA dehydrogenase deficiency</a>, <a href="/wiki/Cystic_fibrosis" title="Cystic fibrosis">cystic fibrosis</a>, <a href="/wiki/Sickle_cell_disease" title="Sickle cell disease">sickle cell disease</a>, <a href="/wiki/Tay%E2%80%93Sachs_disease" title="Tay–Sachs disease">Tay–Sachs disease</a>, <a href="/wiki/Niemann%E2%80%93Pick_disease" title="Niemann–Pick disease">Niemann–Pick disease</a>, <a href="/wiki/Spinal_muscular_atrophy" title="Spinal muscular atrophy">spinal muscular atrophy</a>, and <a href="/wiki/Roberts_syndrome" title="Roberts syndrome">Roberts syndrome</a>. Certain other phenotypes, such as wet versus dry <a href="/wiki/Earwax" title="Earwax">earwax</a>, are also determined in an autosomal recessive fashion.<sup id="cite_ref-Wade_24-0" class="reference"><a href="#cite_note-Wade-24"><span class="cite-bracket">[</span>24<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Yoshiura_25-0" class="reference"><a href="#cite_note-Yoshiura-25"><span class="cite-bracket">[</span>25<span class="cite-bracket">]</span></a></sup> Some autosomal recessive disorders are common because, in the past, carrying one of the faulty genes led to a <a href="/wiki/Heterozygote_advantage" title="Heterozygote advantage">slight protection</a> against an infectious disease or <a href="/wiki/Toxin" title="Toxin">toxin</a> such as <a href="/wiki/Tuberculosis" title="Tuberculosis">tuberculosis</a> or <a href="/wiki/Malaria" title="Malaria">malaria</a>.<sup id="cite_ref-26" class="reference"><a href="#cite_note-26"><span class="cite-bracket">[</span>26<span class="cite-bracket">]</span></a></sup> Such disorders include cystic fibrosis,<sup id="cite_ref-27" class="reference"><a href="#cite_note-27"><span class="cite-bracket">[</span>27<span class="cite-bracket">]</span></a></sup> sickle cell disease,<sup id="cite_ref-pmid19442502_28-0" class="reference"><a href="#cite_note-pmid19442502-28"><span class="cite-bracket">[</span>28<span class="cite-bracket">]</span></a></sup> <a href="/wiki/Phenylketonuria" title="Phenylketonuria">phenylketonuria</a><sup id="cite_ref-29" class="reference"><a href="#cite_note-29"><span class="cite-bracket">[</span>29<span class="cite-bracket">]</span></a></sup> and <a href="/wiki/Thalassaemia" class="mw-redirect" title="Thalassaemia">thalassaemia</a>.<sup id="cite_ref-30" class="reference"><a href="#cite_note-30"><span class="cite-bracket">[</span>30<span class="cite-bracket">]</span></a></sup> </p> <ul class="gallery mw-gallery-traditional"> <li class="gallerybox" style="width: 255px"> <div class="thumb" style="width: 250px; height: 390px;"><span typeof="mw:File"><a href="/wiki/File:Autosomal_recessive_inheritance_for_affected_enzyme.png" class="mw-file-description" title="Hereditary defects in enzymes are generally inherited in an autosomal fashion because there are more non-X chromosomes than X-chromosomes, and a recessive fashion because the enzymes from the unaffected genes are generally sufficient to prevent symptoms in carriers."><img alt="Hereditary defects in enzymes are generally inherited in an autosomal fashion because there are more non-X chromosomes than X-chromosomes, and a recessive fashion because the enzymes from the unaffected genes are generally sufficient to prevent symptoms in carriers." src="//upload.wikimedia.org/wikipedia/commons/thumb/1/19/Autosomal_recessive_inheritance_for_affected_enzyme.png/217px-Autosomal_recessive_inheritance_for_affected_enzyme.png" decoding="async" width="217" height="360" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/1/19/Autosomal_recessive_inheritance_for_affected_enzyme.png/326px-Autosomal_recessive_inheritance_for_affected_enzyme.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/1/19/Autosomal_recessive_inheritance_for_affected_enzyme.png/435px-Autosomal_recessive_inheritance_for_affected_enzyme.png 2x" data-file-width="925" data-file-height="1532" /></a></span></div> <div class="gallerytext">Hereditary defects in <a href="/wiki/Enzymes" class="mw-redirect" title="Enzymes">enzymes</a> are generally inherited in an autosomal fashion because there are more non-X chromosomes than X-chromosomes, and a recessive fashion because the enzymes from the unaffected genes are generally sufficient to prevent symptoms in carriers.</div> </li> <li class="gallerybox" style="width: 255px"> <div class="thumb" style="width: 250px; height: 390px;"><span typeof="mw:File"><a href="/wiki/File:Autosomal_dominant_inheritance_for_structural_protein.png" class="mw-file-description" title="On the other hand, hereditary defects in structural proteins (such as osteogenesis imperfecta, Marfan's syndrome and many Ehlers–Danlos syndromes) are generally autosomal dominant, because it is enough that some components are defective to make the whole structure dysfunctional. This is a dominant-negative process, wherein a mutated gene product adversely affects the non-mutated gene product within the same cell."><img alt="On the other hand, hereditary defects in structural proteins (such as osteogenesis imperfecta, Marfan's syndrome and many Ehlers–Danlos syndromes) are generally autosomal dominant, because it is enough that some components are defective to make the whole structure dysfunctional. This is a dominant-negative process, wherein a mutated gene product adversely affects the non-mutated gene product within the same cell." src="//upload.wikimedia.org/wikipedia/commons/thumb/e/e0/Autosomal_dominant_inheritance_for_structural_protein.png/214px-Autosomal_dominant_inheritance_for_structural_protein.png" decoding="async" width="214" height="360" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/e/e0/Autosomal_dominant_inheritance_for_structural_protein.png/321px-Autosomal_dominant_inheritance_for_structural_protein.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/e/e0/Autosomal_dominant_inheritance_for_structural_protein.png/428px-Autosomal_dominant_inheritance_for_structural_protein.png 2x" data-file-width="1148" data-file-height="1929" /></a></span></div> <div class="gallerytext">On the other hand, hereditary defects in structural proteins (such as <a href="/wiki/Osteogenesis_imperfecta" title="Osteogenesis imperfecta">osteogenesis imperfecta</a>, <a href="/wiki/Marfan%27s_syndrome" class="mw-redirect" title="Marfan's syndrome">Marfan's syndrome</a> and many <a href="/wiki/Ehlers%E2%80%93Danlos_syndrome" title="Ehlers–Danlos syndrome">Ehlers–Danlos syndromes</a>) are generally autosomal dominant, because it is enough that some components are defective to make the whole structure dysfunctional. This is a <a href="/wiki/Dominant-negative_mutation" class="mw-redirect" title="Dominant-negative mutation">dominant-negative</a> process, wherein a mutated gene product adversely affects the non-mutated gene product within the same cell.</div> </li> </ul> <div class="mw-heading mw-heading3"><h3 id="X-linked_dominant">X-linked dominant</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetic_disorder&action=edit&section=4" title="Edit section: X-linked dominant"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure class="mw-default-size" typeof="mw:File/Thumb"><a href="/wiki/File:Human_karyotype_with_bands_and_sub-bands.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/b/b1/Human_karyotype_with_bands_and_sub-bands.png/220px-Human_karyotype_with_bands_and_sub-bands.png" decoding="async" width="220" height="364" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/b/b1/Human_karyotype_with_bands_and_sub-bands.png/330px-Human_karyotype_with_bands_and_sub-bands.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/b/b1/Human_karyotype_with_bands_and_sub-bands.png/440px-Human_karyotype_with_bands_and_sub-bands.png 2x" data-file-width="9684" data-file-height="16008" /></a><figcaption>Schematic <a href="/wiki/Karyotype" title="Karyotype">karyogram</a> showing an overview of the <a href="/wiki/Human_genome" title="Human genome">human genome</a>. It shows annotated <a href="/wiki/Locus_(genetics)" title="Locus (genetics)">bands and sub-bands</a> as used in the <a href="/wiki/International_System_for_Human_Cytogenomic_Nomenclature" title="International System for Human Cytogenomic Nomenclature">nomenclature of genetic disorders</a>. It shows 22 <a href="/wiki/Homologous_chromosome" title="Homologous chromosome">homologous chromosomes</a>, both the female (XX) and male (XY) versions of the <a href="/wiki/Sex_chromosome" title="Sex chromosome">sex chromosome</a> (bottom right), as well as the <a href="/wiki/Human_mitochondrial_genetics" title="Human mitochondrial genetics">mitochondrial genome</a> (to scale at bottom left).<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (March 2023)">citation needed</span></a></i>]</sup><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236090951"><div role="note" class="hatnote navigation-not-searchable">Further information: <a href="/wiki/Karyotype" title="Karyotype">Karyotype</a></div></figcaption></figure> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236090951"><div role="note" class="hatnote navigation-not-searchable">Main article: <a href="/wiki/X-linked_dominant" class="mw-redirect" title="X-linked dominant">X-linked dominant</a></div> <p>X-linked dominant disorders are caused by mutations in genes on the <a href="/wiki/X_chromosome" title="X chromosome">X chromosome</a>. Only a few disorders have this inheritance pattern, with a prime example being <a href="/wiki/X-linked_hypophosphatemic_rickets" class="mw-redirect" title="X-linked hypophosphatemic rickets">X-linked hypophosphatemic rickets</a>. Males and females are both affected in these disorders, with males typically being more severely affected than females. Some X-linked dominant conditions, such as <a href="/wiki/Rett_syndrome" title="Rett syndrome">Rett syndrome</a>, <a href="/wiki/Incontinentia_pigmenti" title="Incontinentia pigmenti">incontinentia pigmenti</a> type 2, and <a href="/wiki/Aicardi_syndrome" title="Aicardi syndrome">Aicardi syndrome</a>, are usually fatal in males either <i>in utero</i> or shortly after birth, and are therefore predominantly seen in females. Exceptions to this finding are extremely rare cases in which boys with <a href="/wiki/Klinefelter_syndrome" title="Klinefelter syndrome">Klinefelter syndrome</a> (44+xxy) also inherit an X-linked dominant condition and exhibit symptoms more similar to those of a female in terms of disease severity. The chance of passing on an X-linked dominant disorder differs between men and women. The sons of a man with an X-linked dominant disorder will all be unaffected (since they receive their father's Y chromosome), but his daughters will all inherit the condition. A woman with an X-linked dominant disorder has a 50% chance of having an affected foetus with each pregnancy, although in cases such as incontinentia pigmenti, only female offspring are generally viable. </p> <div class="mw-heading mw-heading3"><h3 id="X-linked_recessive">X-linked recessive</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetic_disorder&action=edit&section=5" title="Edit section: X-linked recessive"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236090951"><div role="note" class="hatnote navigation-not-searchable">Main article: <a href="/wiki/X-linked_recessive_inheritance" title="X-linked recessive inheritance">X-linked recessive inheritance</a></div> <p>X-linked recessive conditions are also caused by mutations in genes on the X chromosome. Males are much more frequently affected than females, because they only have the one X chromosome necessary for the condition to present. The chance of passing on the disorder differs between men and women. The sons of a man with an X-linked recessive disorder will not be affected (since they receive their father's Y chromosome), but his daughters will be carriers of one copy of the mutated gene. A woman who is a carrier of an X-linked recessive disorder (X<sup>R</sup>X<sup>r</sup>) has a 50% chance of having sons who are affected and a 50% chance of having daughters who are carriers of one copy of the mutated gene. X-linked recessive conditions include the serious diseases <a href="/wiki/Hemophilia_A" class="mw-redirect" title="Hemophilia A">hemophilia A</a>, <a href="/wiki/Duchenne_muscular_dystrophy" title="Duchenne muscular dystrophy">Duchenne muscular dystrophy</a>, and <a href="/wiki/Lesch%E2%80%93Nyhan_syndrome" title="Lesch–Nyhan syndrome">Lesch–Nyhan syndrome</a>, as well as common and less serious conditions such as <a href="/wiki/Male_pattern_baldness" class="mw-redirect" title="Male pattern baldness">male pattern baldness</a> and red–green <a href="/wiki/Color_blindness" title="Color blindness">color blindness</a>. X-linked recessive conditions can sometimes manifest in females due to <a href="/wiki/Skewed_X-inactivation" title="Skewed X-inactivation">skewed X-inactivation</a> or monosomy X (<a href="/wiki/Turner_syndrome" title="Turner syndrome">Turner syndrome</a>).<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (March 2023)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading3"><h3 id="Y-linked">Y-linked</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetic_disorder&action=edit&section=6" title="Edit section: Y-linked"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236090951"><div role="note" class="hatnote navigation-not-searchable">Main article: <a href="/wiki/Y_linkage" title="Y linkage">Y linkage</a></div> <p>Y-linked disorders are caused by mutations on the Y chromosome. These conditions may only be transmitted from the heterogametic sex (e.g. male humans) to offspring of the same sex. More simply, this means that Y-linked disorders in humans can only be passed from men to their sons; females can never be affected because they do not possess Y-allosomes.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (March 2023)">citation needed</span></a></i>]</sup> </p><p>Y-linked disorders are exceedingly rare but the most well-known examples typically cause infertility. Reproduction in such conditions is only possible through the circumvention of infertility by medical intervention. </p> <div class="mw-heading mw-heading3"><h3 id="Mitochondrial">Mitochondrial</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetic_disorder&action=edit&section=7" title="Edit section: Mitochondrial"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236090951"><div role="note" class="hatnote navigation-not-searchable">Main articles: <a href="/wiki/Mitochondrial_disease" title="Mitochondrial disease">Mitochondrial disease</a> and <a href="/wiki/Mitochondrial_DNA" title="Mitochondrial DNA">Mitochondrial DNA</a></div> <p>This type of inheritance, also known as maternal inheritance, is the rarest and applies to the 13 genes encoded by <a href="/wiki/Mitochondrial_DNA" title="Mitochondrial DNA">mitochondrial DNA</a>. Because only egg cells contribute mitochondria to the developing embryo, only mothers (who are affected) can pass on mitochondrial DNA conditions to their children. An example of this type of disorder is <a href="/wiki/Leber%27s_hereditary_optic_neuropathy" title="Leber's hereditary optic neuropathy">Leber's hereditary optic neuropathy</a>.<sup id="cite_ref-31" class="reference"><a href="#cite_note-31"><span class="cite-bracket">[</span>31<span class="cite-bracket">]</span></a></sup> </p><p>It is important to stress that the vast majority of <a href="/wiki/Mitochondrial_diseases" class="mw-redirect" title="Mitochondrial diseases">mitochondrial diseases</a> (particularly when symptoms develop in early life) are actually caused by a <a href="/wiki/Nuclear_gene" title="Nuclear gene">nuclear gene</a> defect, as the mitochondria are mostly developed by non-mitochondrial DNA. These diseases most often follow autosomal recessive inheritance.<sup id="cite_ref-32" class="reference"><a href="#cite_note-32"><span class="cite-bracket">[</span>32<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Multifactorial_disorder">Multifactorial disorder</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetic_disorder&action=edit&section=8" title="Edit section: Multifactorial disorder"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236090951"><div role="note" class="hatnote navigation-not-searchable">Main article: <a href="/wiki/Multifactorial_disease" title="Multifactorial disease">Multifactorial disease</a></div> <p>Genetic disorders may also be complex, multifactorial, or polygenic, meaning they are likely associated with the effects of multiple genes in combination with lifestyles and environmental factors. Multifactorial disorders include <a href="/wiki/Heart_disease" class="mw-redirect" title="Heart disease">heart disease</a> and <a href="/wiki/Diabetes" title="Diabetes">diabetes</a>. Although complex disorders often cluster in families, they do not have a clear-cut pattern of inheritance. This makes it difficult to determine a person's risk of inheriting or passing on these disorders. Complex disorders are also difficult to study and treat because the specific factors that cause most of these disorders have not yet been identified. Studies that aim to identify the cause of complex disorders can use several methodological approaches to determine <a href="/wiki/Genotype" title="Genotype">genotype</a>–<a href="/wiki/Phenotype" title="Phenotype">phenotype</a> associations. One method, the <a href="/wiki/Genotype-first_approach" title="Genotype-first approach">genotype-first approach</a>, starts by identifying genetic variants within patients and then determining the associated clinical manifestations. This is opposed to the more traditional phenotype-first approach, and may identify causal factors that have previously been obscured by clinical <a href="/wiki/Heterogeneity" class="mw-redirect" title="Heterogeneity">heterogeneity</a>, <a href="/wiki/Penetrance" title="Penetrance">penetrance</a>, and expressivity.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (March 2023)">citation needed</span></a></i>]</sup> </p><p>On a pedigree, polygenic diseases do tend to "run in families", but the inheritance does not fit simple patterns as with <a href="/wiki/Mendelian" class="mw-redirect" title="Mendelian">Mendelian</a> diseases. This does not mean that the genes cannot eventually be located and studied. There is also a strong environmental component to many of them (e.g., <a href="/wiki/Blood_pressure" title="Blood pressure">blood pressure</a>). </p><p>Other such cases include: </p> <ul><li><a href="/wiki/Asthma" title="Asthma">asthma</a></li> <li><a href="/wiki/Autoimmune_diseases" class="mw-redirect" title="Autoimmune diseases">autoimmune diseases</a> such as <a href="/wiki/Multiple_sclerosis" title="Multiple sclerosis">multiple sclerosis</a></li> <li><a href="/wiki/Cancers" class="mw-redirect" title="Cancers">cancers</a></li> <li><a href="/wiki/Ciliopathies" class="mw-redirect" title="Ciliopathies">ciliopathies</a></li> <li><a href="/wiki/Cleft_palate" class="mw-redirect" title="Cleft palate">cleft palate</a></li> <li><a href="/wiki/Diabetes" title="Diabetes">diabetes</a></li> <li><a href="/wiki/Heart_disease" class="mw-redirect" title="Heart disease">heart disease</a></li> <li><a href="/wiki/Hypertension" title="Hypertension">hypertension</a></li> <li><a href="/wiki/Inflammatory_bowel_disease" title="Inflammatory bowel disease">inflammatory bowel disease</a></li> <li><a href="/wiki/Intellectual_disability" title="Intellectual disability">intellectual disability</a></li> <li><a href="/wiki/Mood_disorder" title="Mood disorder">mood disorder</a></li> <li><a href="/wiki/Obesity" title="Obesity">obesity</a></li> <li><a href="/wiki/Refractive_error" title="Refractive error">refractive error</a></li> <li><a href="/wiki/Infertility" title="Infertility">infertility</a></li></ul> <div class="mw-heading mw-heading2"><h2 id="Chromosomal_disorder">Chromosomal disorder</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetic_disorder&action=edit&section=9" title="Edit section: Chromosomal disorder"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236090951"><div role="note" class="hatnote navigation-not-searchable">See also: <a href="/wiki/Chromosome_abnormality" title="Chromosome abnormality">Chromosome abnormality</a></div> <figure class="mw-default-size" typeof="mw:File/Thumb"><a href="/wiki/File:Down_Syndrome_Karyotype.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/1/11/Down_Syndrome_Karyotype.png/220px-Down_Syndrome_Karyotype.png" decoding="async" width="220" height="237" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/1/11/Down_Syndrome_Karyotype.png/330px-Down_Syndrome_Karyotype.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/1/11/Down_Syndrome_Karyotype.png/440px-Down_Syndrome_Karyotype.png 2x" data-file-width="1077" data-file-height="1159" /></a><figcaption>Chromosomes in <a href="/wiki/Down_syndrome" title="Down syndrome">Down syndrome</a>, the most common human condition due to aneuploidy. There are three chromosomes 21 (in the last row).</figcaption></figure> <p>A chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA.<sup id="cite_ref-33" class="reference"><a href="#cite_note-33"><span class="cite-bracket">[</span>33<span class="cite-bracket">]</span></a></sup> It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes. An example of these disorders is Trisomy 21 (the most common form of <a href="/wiki/Down_syndrome" title="Down syndrome">Down syndrome</a>), in which there is an extra copy of chromosome 21 in all cells.<sup id="cite_ref-34" class="reference"><a href="#cite_note-34"><span class="cite-bracket">[</span>34<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Diagnosis">Diagnosis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetic_disorder&action=edit&section=10" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Due to the wide range of genetic disorders that are known, diagnosis is widely varied and dependent of the disorder. Most genetic disorders are diagnosed <a href="/wiki/Prenatal_testing" title="Prenatal testing">pre-birth</a>, <a href="/wiki/Newborn_screening" title="Newborn screening">at birth</a>, or during early childhood however some, such as <a href="/wiki/Huntington%27s_disease" title="Huntington's disease">Huntington's disease</a>, can escape detection until the patient begins exhibiting symptoms well into adulthood.<sup id="cite_ref-35" class="reference"><a href="#cite_note-35"><span class="cite-bracket">[</span>35<span class="cite-bracket">]</span></a></sup> </p><p>The basic aspects of a genetic disorder rests on the inheritance of genetic material. With an in depth <a href="/wiki/Family_history_(medicine)" title="Family history (medicine)">family history</a>, it is possible to anticipate possible disorders in children which direct medical professionals to specific tests depending on the disorder and allow parents the chance to prepare for potential lifestyle changes, anticipate the possibility of <a href="/wiki/Stillbirth" title="Stillbirth">stillbirth</a>, or contemplate <a href="/wiki/Termination_of_pregnancy" class="mw-redirect" title="Termination of pregnancy">termination</a>.<sup id="cite_ref-36" class="reference"><a href="#cite_note-36"><span class="cite-bracket">[</span>36<span class="cite-bracket">]</span></a></sup> <a href="/wiki/Prenatal_diagnosis" class="mw-redirect" title="Prenatal diagnosis">Prenatal diagnosis</a> can detect the presence of characteristic abnormalities in fetal development through <a href="/wiki/Medical_ultrasonography" class="mw-redirect" title="Medical ultrasonography">ultrasound</a>, or detect the presence of characteristic substances via <a href="/wiki/Invasiveness_of_surgical_procedures" class="mw-redirect" title="Invasiveness of surgical procedures">invasive procedures</a> which involve inserting probes or needles into the uterus such as in <a href="/wiki/Amniocentesis" title="Amniocentesis">amniocentesis</a>.<sup id="cite_ref-harvard_37-0" class="reference"><a href="#cite_note-harvard-37"><span class="cite-bracket">[</span>37<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Prognosis">Prognosis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetic_disorder&action=edit&section=11" title="Edit section: Prognosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Not all genetic disorders directly result in death; however, there are no known cures for genetic disorders. Many genetic disorders affect stages of development, such as <a href="/wiki/Down_syndrome" title="Down syndrome">Down syndrome</a>, while others result in purely physical symptoms such as <a href="/wiki/Muscular_dystrophy" title="Muscular dystrophy">muscular dystrophy</a>. Other disorders, such as <a href="/wiki/Huntington%27s_disease" title="Huntington's disease">Huntington's disease</a>, show no signs until adulthood. During the active time of a genetic disorder, patients mostly rely on maintaining or slowing the degradation of <a href="/wiki/Quality_of_life_(healthcare)" title="Quality of life (healthcare)">quality of life</a> and maintain patient <a href="/wiki/Autonomy" title="Autonomy">autonomy</a>. This includes <a href="/wiki/Physical_therapy" title="Physical therapy">physical therapy</a> and <a href="/wiki/Pain_management" title="Pain management">pain management</a>. </p> <div class="mw-heading mw-heading2"><h2 id="Treatment">Treatment</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetic_disorder&action=edit&section=12" title="Edit section: Treatment"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure class="mw-halign-right" typeof="mw:File/Thumb"><a href="/wiki/File:Personal_genomics_gene_therapy_flowchart.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/4/4d/Personal_genomics_gene_therapy_flowchart.png/150px-Personal_genomics_gene_therapy_flowchart.png" decoding="async" width="150" height="177" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/4/4d/Personal_genomics_gene_therapy_flowchart.png/226px-Personal_genomics_gene_therapy_flowchart.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/4/4d/Personal_genomics_gene_therapy_flowchart.png/300px-Personal_genomics_gene_therapy_flowchart.png 2x" data-file-width="560" data-file-height="660" /></a><figcaption>From <a href="/wiki/Personal_genomics" title="Personal genomics">personal genomics</a> to gene therapy</figcaption></figure> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236090951"><div role="note" class="hatnote navigation-not-searchable">See also: <a href="/wiki/Gene_therapy" title="Gene therapy">Gene therapy</a></div><p>The treatment of genetic disorders is an ongoing battle, with over 1,800 <a href="/wiki/Gene_therapy" title="Gene therapy">gene therapy</a> clinical trials having been completed, are ongoing, or have been approved worldwide.<sup id="cite_ref-38" class="reference"><a href="#cite_note-38"><span class="cite-bracket">[</span>38<span class="cite-bracket">]</span></a></sup> Despite this, most treatment options revolve around treating the symptoms of the disorders in an attempt to improve patient <a href="/wiki/Quality_of_life_(healthcare)" title="Quality of life (healthcare)">quality of life</a>. </p><p>Gene therapy refers to a form of treatment where a healthy gene is introduced to a patient. This should alleviate the defect caused by a faulty gene or slow the progression of the disease. A major obstacle has been the delivery of genes to the appropriate cell, tissue, and organ affected by the disorder. Researchers have investigated how they can introduce a gene into the potentially trillions of cells that carry the defective copy. Finding an answer to this has been a roadblock between understanding the genetic disorder and correcting the genetic disorder.<sup id="cite_ref-39" class="reference"><a href="#cite_note-39"><span class="cite-bracket">[</span>39<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Epidemiology">Epidemiology</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetic_disorder&action=edit&section=13" title="Edit section: Epidemiology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Around 1 in 50 people are affected by a known single-gene disorder, while around 1 in 263 are affected by a <a href="/wiki/Chromosomal_disorder" class="mw-redirect" title="Chromosomal disorder">chromosomal disorder</a>.<sup id="cite_ref-:2_7-2" class="reference"><a href="#cite_note-:2-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> Around 65% of people have some kind of health problem as a result of congenital genetic mutations.<sup id="cite_ref-:2_7-3" class="reference"><a href="#cite_note-:2-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> Due to the significantly large number of genetic disorders, approximately 1 in 21 people are affected by a genetic disorder classified as "<a href="/wiki/Rare_disease" title="Rare disease">rare</a>" (usually defined as affecting less than 1 in 2,000 people). Most genetic disorders are rare in themselves.<sup id="cite_ref-:1_5-2" class="reference"><a href="#cite_note-:1-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:3_8-1" class="reference"><a href="#cite_note-:3-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> There are well over 6,000 known genetic disorders,<sup id="cite_ref-:0_4-1" class="reference"><a href="#cite_note-:0-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> and new genetic disorders are constantly being described in medical literature.<sup id="cite_ref-:1_5-3" class="reference"><a href="#cite_note-:1-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="History">History</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetic_disorder&action=edit&section=14" title="Edit section: History"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The earliest known genetic condition in a <a href="/wiki/Hominid" class="mw-redirect" title="Hominid">hominid</a> was in the fossil species <i><a href="/wiki/Paranthropus_robustus" title="Paranthropus robustus">Paranthropus robustus</a>,</i> with over a third of individuals displaying <a href="/wiki/Amelogenesis_imperfecta" title="Amelogenesis imperfecta">amelogenesis imperfecta</a>.<sup id="cite_ref-40" class="reference"><a href="#cite_note-40"><span class="cite-bracket">[</span>40<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="See_also">See also</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetic_disorder&action=edit&section=15" title="Edit section: See also"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a href="/wiki/FINDbase" title="FINDbase">FINDbase</a> (the Frequency of Inherited Disorders database)</li> <li><a href="/wiki/Genetic_epidemiology" title="Genetic epidemiology">Genetic epidemiology</a></li> <li><a href="/wiki/List_of_genetic_disorders" title="List of genetic disorders">List of genetic disorders</a></li> <li><a href="/wiki/Population_groups_in_biomedicine" class="mw-redirect" title="Population groups in biomedicine">Population groups in biomedicine</a></li> <li><a href="/wiki/Mendelian_error" title="Mendelian error">Mendelian error</a></li></ul> <div class="mw-heading mw-heading2"><h2 id="References">References</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetic_disorder&action=edit&section=16" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239543626">.mw-parser-output .reflist{margin-bottom:0.5em;list-style-type:decimal}@media screen{.mw-parser-output .reflist{font-size:90%}}.mw-parser-output .reflist .references{font-size:100%;margin-bottom:0;list-style-type:inherit}.mw-parser-output .reflist-columns-2{column-width:30em}.mw-parser-output .reflist-columns-3{column-width:25em}.mw-parser-output .reflist-columns{margin-top:0.3em}.mw-parser-output .reflist-columns ol{margin-top:0}.mw-parser-output .reflist-columns li{page-break-inside:avoid;break-inside:avoid-column}.mw-parser-output .reflist-upper-alpha{list-style-type:upper-alpha}.mw-parser-output .reflist-upper-roman{list-style-type:upper-roman}.mw-parser-output .reflist-lower-alpha{list-style-type:lower-alpha}.mw-parser-output .reflist-lower-greek{list-style-type:lower-greek}.mw-parser-output .reflist-lower-roman{list-style-type:lower-roman}</style><div class="reflist"> <div class="mw-references-wrap mw-references-columns"><ol class="references"> <li id="cite_note-1"><span 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"Gene therapy clinical trials worldwide to 2012 - an update". <i>The Journal of Gene Medicine</i>. <b>15</b> (2): 65–77. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1002%2Fjgm.2698">10.1002/jgm.2698</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/23355455">23355455</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:37123019">37123019</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=The+Journal+of+Gene+Medicine&rft.atitle=Gene+therapy+clinical+trials+worldwide+to+2012+-+an+update&rft.volume=15&rft.issue=2&rft.pages=65-77&rft.date=2013-02&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A37123019%23id-name%3DS2CID&rft_id=info%3Apmid%2F23355455&rft_id=info%3Adoi%2F10.1002%2Fjgm.2698&rft.aulast=Ginn&rft.aufirst=SL&rft.au=Alexander%2C+IE&rft.au=Edelstein%2C+ML&rft.au=Abedi%2C+MR&rft.au=Wixon%2C+J&rfr_id=info%3Asid%2Fen.wikipedia.org%3AGenetic+disorder" class="Z3988"></span></span> </li> <li id="cite_note-39"><span class="mw-cite-backlink"><b><a href="#cite_ref-39">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFVerma2013" class="citation journal cs1">Verma IM (August 2013). "Medicine. Gene therapy that works". <i>Science</i>. <b>341</b> (6148): 853–855. <a href="/wiki/Bibcode_(identifier)" class="mw-redirect" title="Bibcode (identifier)">Bibcode</a>:<a rel="nofollow" class="external text" href="https://ui.adsabs.harvard.edu/abs/2013Sci...341..853V">2013Sci...341..853V</a>. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1126%2Fscience.1242551">10.1126/science.1242551</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/23970689">23970689</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:206550787">206550787</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Science&rft.atitle=Medicine.+Gene+therapy+that+works&rft.volume=341&rft.issue=6148&rft.pages=853-855&rft.date=2013-08&rft_id=info%3Adoi%2F10.1126%2Fscience.1242551&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A206550787%23id-name%3DS2CID&rft_id=info%3Apmid%2F23970689&rft_id=info%3Abibcode%2F2013Sci...341..853V&rft.aulast=Verma&rft.aufirst=IM&rfr_id=info%3Asid%2Fen.wikipedia.org%3AGenetic+disorder" class="Z3988"></span></span> </li> <li id="cite_note-40"><span class="mw-cite-backlink"><b><a href="#cite_ref-40">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFTowleIrish2019" class="citation journal cs1">Towle I, Irish JD (April 2019). <a rel="nofollow" class="external text" href="https://researchonline.ljmu.ac.uk/id/eprint/10289/1/Towle_Irish_JHE%202019.pdf">"A probable genetic origin for pitting enamel hypoplasia on the molars of Paranthropus robustus"</a> <span class="cs1-format">(PDF)</span>. <i>Journal of Human Evolution</i>. <b>129</b>: 54–61. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.jhevol.2019.01.002">10.1016/j.jhevol.2019.01.002</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/30904040">30904040</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:85502058">85502058</a>. <a rel="nofollow" class="external text" href="https://web.archive.org/web/20230604182122/http://researchonline.ljmu.ac.uk/id/eprint/10289/1/Towle_Irish_JHE%202019.pdf">Archived</a> <span class="cs1-format">(PDF)</span> from the original on 2023-06-04<span class="reference-accessdate">. Retrieved <span class="nowrap">2023-02-20</span></span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Journal+of+Human+Evolution&rft.atitle=A+probable+genetic+origin+for+pitting+enamel+hypoplasia+on+the+molars+of+Paranthropus+robustus&rft.volume=129&rft.pages=54-61&rft.date=2019-04&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A85502058%23id-name%3DS2CID&rft_id=info%3Apmid%2F30904040&rft_id=info%3Adoi%2F10.1016%2Fj.jhevol.2019.01.002&rft.aulast=Towle&rft.aufirst=I&rft.au=Irish%2C+JD&rft_id=https%3A%2F%2Fresearchonline.ljmu.ac.uk%2Fid%2Feprint%2F10289%2F1%2FTowle_Irish_JHE%25202019.pdf&rfr_id=info%3Asid%2Fen.wikipedia.org%3AGenetic+disorder" class="Z3988"></span></span> </li> </ol></div></div> <div class="mw-heading mw-heading2"><h2 id="External_links">External links</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a 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style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">Classification</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"><div style="position:relative; float:right; font-size:0.8em;"><a href="https://www.wikidata.org/wiki/Q200779" class="extiw" title="d:Q200779">D</a></div><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/Medical_Subject_Headings" title="Medical Subject Headings">MeSH</a></b>: <a rel="nofollow" class="external text" href="https://meshb.nlm.nih.gov/record/ui?ui=D030342">D030342</a></li><li><b><a href="/wiki/Diseases_Database" title="Diseases Database">DiseasesDB</a></b>: <a rel="nofollow" class="external text" href="http://www.diseasesdatabase.com/ddb28838.htm">28838</a></li></ul></div></div></td></tr></tbody></table></div> <ul><li><a rel="nofollow" class="external text" href="https://www.cdc.gov/genomics/default.htm">Public Health Genomics at CDC</a></li> <li><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/omim">OMIM — Online Mendelian Inheritance in Man, a catalog of human genes and genetic disorders</a></li> <li><a rel="nofollow" class="external text" href="https://web.archive.org/web/20081216064201/http://rarediseases.info.nih.gov/GARD/">Genetic and Rare Diseases Information Center (GARD)</a> Office of Rare Diseases (ORD), National Institutes of Health (NIH)</li> <li><a rel="nofollow" class="external text" href="https://www.cdc.gov/ncbddd/index.html">CDC's National Center on Birth Defects and Developmental Disabilities</a></li> <li><a rel="nofollow" class="external text" href="https://web.archive.org/web/20080905105100/http://www.ornl.gov/hgmis/medicine/assist.html">Genetic Disease Information from the Human Genome Project</a></li> <li><a rel="nofollow" class="external text" href="https://globalgenes.org/">Global Genes Project, Genetic and Rare Diseases Organization</a></li> <li><a rel="nofollow" class="external text" href="https://www.genome.gov/For-Patients-and-Families/Genetic-Disorders">List of Genetic Disorders - Genome.gov</a></li></ul> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Personal_genomics" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><style data-mw-deduplicate="TemplateStyles:r1239400231">.mw-parser-output .navbar{display:inline;font-size:88%;font-weight:normal}.mw-parser-output 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title="Biobank">Biobank</a></li> <li><a href="/wiki/Biological_database" title="Biological database">Biological database</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Field concepts</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Biological_specimen" title="Biological specimen">Biological specimen</a></li> <li><a href="/wiki/De-identification" title="De-identification">De-identification</a></li> <li><a href="/wiki/Human_genetic_variation" title="Human genetic variation">Human genetic variation</a></li> <li><a href="/wiki/Genetic_linkage" title="Genetic linkage">Genetic linkage</a></li> <li><a href="/wiki/Single-nucleotide_polymorphisms" class="mw-redirect" title="Single-nucleotide polymorphisms">Single-nucleotide polymorphisms</a></li> <li><a href="/wiki/Identity_by_descent" title="Identity by descent">Identity by descent</a></li> <li><a class="mw-selflink selflink">Genetic disorder</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Applications</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Personalized_medicine" title="Personalized medicine">Personalized medicine</a></li> <li><a href="/wiki/Predictive_medicine" title="Predictive medicine">Predictive medicine</a></li> <li><a href="/wiki/Genetic_epidemiology" title="Genetic epidemiology">Genetic epidemiology</a></li> <li><a href="/wiki/Pharmacogenomics" title="Pharmacogenomics">Pharmacogenomics</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Analysis techniques</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Whole_genome_sequencing" title="Whole genome sequencing">Whole genome sequencing</a></li> <li><a href="/wiki/Genome-wide_association_study" title="Genome-wide association study">Genome-wide association study</a></li> <li><a href="/wiki/SNP_array" title="SNP array">SNP array</a></li> <li><a href="/wiki/Genetic_testing" title="Genetic testing">Genetic testing</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Major projects</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Human_Genome_Project" title="Human Genome Project">Human Genome Project</a></li> <li><a href="/wiki/International_HapMap_Project" title="International HapMap Project">International HapMap Project</a></li> <li><a href="/wiki/1000_Genomes_Project" title="1000 Genomes Project">1000 Genomes Project</a></li> <li><a href="/wiki/Human_Genome_Diversity_Project" title="Human Genome Diversity Project">Human Genome Diversity Project</a></li></ul> </div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Genetic_disorders_relating_to_deficiencies_of_transcription_factor_or_coregulators" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Transcription_factor_and_coregulator_deficiencies" title="Template:Transcription factor and coregulator deficiencies"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Transcription_factor_and_coregulator_deficiencies" title="Template talk:Transcription factor and coregulator deficiencies"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Transcription_factor_and_coregulator_deficiencies" title="Special:EditPage/Template:Transcription factor and coregulator deficiencies"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Genetic_disorders_relating_to_deficiencies_of_transcription_factor_or_coregulators" style="font-size:114%;margin:0 4em"><a class="mw-selflink selflink">Genetic disorders</a> relating to deficiencies of <a href="/wiki/Transcription_factor" title="Transcription factor">transcription factor</a> or coregulators</div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%">(1) Basic domains</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">1.2</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Feingold_syndrome" title="Feingold syndrome">Feingold syndrome</a></li> <li><a href="/wiki/Saethre%E2%80%93Chotzen_syndrome" title="Saethre–Chotzen syndrome">Saethre–Chotzen syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">1.3</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Tietz_syndrome" title="Tietz syndrome">Tietz syndrome</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">(2) Zinc finger<br />DNA-binding domains</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">2.1</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li>(<a href="/wiki/Intracellular_receptor" title="Intracellular receptor">Intracellular receptor</a>): <a href="/wiki/Thyroid_hormone_resistance" title="Thyroid hormone resistance">Thyroid hormone resistance</a></li> <li><a href="/wiki/Androgen_insensitivity_syndrome" title="Androgen insensitivity syndrome">Androgen insensitivity syndrome</a> <ul><li><a href="/wiki/Partial_androgen_insensitivity_syndrome" title="Partial androgen insensitivity syndrome">PAIS</a></li> <li><a href="/wiki/Mild_androgen_insensitivity_syndrome" title="Mild androgen insensitivity syndrome">MAIS</a></li> <li><a href="/wiki/Complete_androgen_insensitivity_syndrome" title="Complete androgen insensitivity syndrome">CAIS</a></li></ul></li> <li><a href="/wiki/Spinal_and_bulbar_muscular_atrophy" title="Spinal and bulbar muscular atrophy">Kennedy's disease</a></li> <li><a href="/wiki/Pseudohypoaldosteronism" title="Pseudohypoaldosteronism">PHA1AD pseudohypoaldosteronism</a></li> <li><a href="/wiki/Estrogen_insensitivity_syndrome" title="Estrogen insensitivity syndrome">Estrogen insensitivity syndrome</a></li> <li><a href="/wiki/X-linked_adrenal_hypoplasia_congenita" title="X-linked adrenal hypoplasia congenita">X-linked adrenal hypoplasia congenita</a></li> <li><a href="/wiki/MODY_1" title="MODY 1">MODY 1</a></li> <li><a href="/wiki/Familial_partial_lipodystrophy" title="Familial partial lipodystrophy">Familial partial lipodystrophy 3</a></li> <li><a href="/wiki/XY_gonadal_dysgenesis" title="XY gonadal dysgenesis">SF1 XY gonadal dysgenesis</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">2.2</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Barakat_syndrome" title="Barakat syndrome">Barakat syndrome</a></li> <li><a href="/wiki/Tricho%E2%80%93rhino%E2%80%93phalangeal_syndrome" class="mw-redirect" title="Tricho–rhino–phalangeal syndrome">Tricho–rhino–phalangeal syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">2.3</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Greig_cephalopolysyndactyly_syndrome" title="Greig cephalopolysyndactyly syndrome">Greig cephalopolysyndactyly syndrome</a>/<a href="/wiki/Pallister%E2%80%93Hall_syndrome" title="Pallister–Hall syndrome">Pallister–Hall syndrome</a></li> <li><a href="/wiki/Denys%E2%80%93Drash_syndrome" title="Denys–Drash syndrome">Denys–Drash syndrome</a></li> <li><a href="/wiki/Duane-radial_ray_syndrome" title="Duane-radial ray syndrome">Duane-radial ray syndrome</a></li> <li><a href="/wiki/Maturity_onset_diabetes_of_the_young" class="mw-redirect" title="Maturity onset diabetes of the young">MODY 7</a></li> <li><a href="/wiki/X-linked_intellectual_disability" title="X-linked intellectual disability">MRX 89</a></li> <li><a href="/wiki/Townes%E2%80%93Brocks_syndrome" title="Townes–Brocks syndrome">Townes–Brocks syndrome</a></li> <li><a href="/wiki/Acrocallosal_syndrome" title="Acrocallosal syndrome">Acrocallosal syndrome</a></li> <li><a href="/wiki/Myotonic_dystrophy" title="Myotonic dystrophy">Myotonic dystrophy 2</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">2.5</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Autoimmune_polyendocrine_syndrome_type_1" title="Autoimmune polyendocrine syndrome type 1">Autoimmune polyendocrine syndrome type 1</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">(3) Helix-turn-helix domains</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">3.1</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Aristaless_related_homeobox" title="Aristaless related homeobox">ARX</a></i> <ul><li><a href="/wiki/Ohtahara_syndrome" title="Ohtahara syndrome">Ohtahara syndrome</a></li> <li><a href="/wiki/Lissencephaly" title="Lissencephaly">Lissencephaly X2</a></li></ul></li> <li><i><a href="/wiki/MNX1" title="MNX1">MNX1</a></i> <ul><li><a href="/wiki/Currarino_syndrome" title="Currarino syndrome">Currarino syndrome</a></li></ul></li> <li><i><a href="/wiki/HOXD13" title="HOXD13">HOXD13</a></i> <ul><li><a href="/wiki/Synpolydactyly" title="Synpolydactyly">SPD1 synpolydactyly</a></li></ul></li> <li><i><a href="/wiki/PDX1" title="PDX1">PDX1</a></i> <ul><li><a href="/wiki/MODY_4" title="MODY 4">MODY 4</a></li></ul></li> <li><i><a href="/wiki/LMX1B" title="LMX1B">LMX1B</a></i> <ul><li><a href="/wiki/Nail%E2%80%93patella_syndrome" title="Nail–patella syndrome">Nail–patella syndrome</a></li></ul></li> <li><i><a href="/wiki/MSX1" class="mw-redirect" title="MSX1">MSX1</a></i> <ul><li><a href="/wiki/Tooth_and_nail_syndrome" title="Tooth and nail syndrome">Tooth and nail syndrome</a></li> <li><a href="/wiki/Cleft_lip_and_palate" class="mw-redirect" title="Cleft lip and palate">OFC5</a></li></ul></li> <li><i><a href="/wiki/PITX2" title="PITX2">PITX2</a></i> <ul><li><a href="/wiki/Axenfeld%E2%80%93Rieger_syndrome" title="Axenfeld–Rieger syndrome">Axenfeld syndrome 1</a></li></ul></li> <li><i><a href="/wiki/POU4F3" title="POU4F3">POU4F3</a></i> <ul><li><a href="/wiki/Nonsyndromic_deafness" title="Nonsyndromic deafness">DFNA15</a></li></ul></li> <li><i><a href="/wiki/POU3F4" title="POU3F4">POU3F4</a></i> <ul><li><a href="/wiki/Nonsyndromic_deafness" title="Nonsyndromic deafness">DFNX2</a></li></ul></li> <li><i><a href="/wiki/ZEB1" title="ZEB1">ZEB1</a></i> <ul><li><a href="/wiki/Posterior_polymorphous_corneal_dystrophy" title="Posterior polymorphous corneal dystrophy">Posterior polymorphous corneal dystrophy</a></li> <li><a href="/wiki/Fuchs%27_dystrophy" title="Fuchs' dystrophy">Fuchs' dystrophy 3</a></li></ul></li> <li><i><a href="/wiki/ZEB2" title="ZEB2">ZEB2</a></i> <ul><li><a href="/wiki/Mowat%E2%80%93Wilson_syndrome" title="Mowat–Wilson syndrome">Mowat–Wilson syndrome</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">3.2</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/PAX2" title="PAX2">PAX2</a></i> <ul><li><a href="/wiki/Papillorenal_syndrome" title="Papillorenal syndrome">Papillorenal syndrome</a></li></ul></li> <li><i><a href="/wiki/PAX3" title="PAX3">PAX3</a></i> <ul><li><a href="/wiki/Waardenburg_syndrome" title="Waardenburg syndrome">Waardenburg syndrome 1&3</a></li></ul></li> <li><i><a href="/wiki/PAX4" title="PAX4">PAX4</a></i> <ul><li><a href="/wiki/Maturity_onset_diabetes_of_the_young" class="mw-redirect" title="Maturity onset diabetes of the young">MODY 9</a></li></ul></li> <li><i><a href="/wiki/PAX6" title="PAX6">PAX6</a></i> <ul><li><a href="/wiki/Gillespie_syndrome" title="Gillespie syndrome">Gillespie syndrome</a></li> <li><a href="/wiki/Coloboma_of_optic_nerve" title="Coloboma of optic nerve">Coloboma of optic nerve</a></li></ul></li> <li><i><a href="/wiki/PAX8" title="PAX8">PAX8</a></i> <ul><li><a href="/wiki/Congenital_hypothyroidism" title="Congenital hypothyroidism">Congenital hypothyroidism 2</a></li></ul></li> <li><i><a href="/wiki/PAX9" title="PAX9">PAX9</a></i> <ul><li><a href="/wiki/Hypodontia" title="Hypodontia">STHAG3</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">3.3</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Forkhead_box_C1" title="Forkhead box C1">FOXC1</a></i> <ul><li><a href="/wiki/Axenfeld_syndrome" class="mw-redirect" title="Axenfeld syndrome">Axenfeld syndrome 3</a></li> <li><a href="/wiki/Iridogoniodysgenesis,_dominant_type" title="Iridogoniodysgenesis, dominant type">Iridogoniodysgenesis, dominant type</a></li></ul></li> <li><i><a href="/wiki/FOXC2" title="FOXC2">FOXC2</a></i> <ul><li><a href="/wiki/Lymphedema%E2%80%93distichiasis_syndrome" title="Lymphedema–distichiasis syndrome">Lymphedema–distichiasis syndrome</a></li></ul></li> <li><i><a href="/wiki/FOXE1" title="FOXE1">FOXE1</a></i> <ul><li><a href="/wiki/Bamforth%E2%80%93Lazarus_syndrome" title="Bamforth–Lazarus syndrome">Bamforth–Lazarus syndrome</a></li></ul></li> <li><i><a href="/wiki/FOXE3" title="FOXE3">FOXE3</a></i> <ul><li><a href="/wiki/Anterior_segment_mesenchymal_dysgenesis" title="Anterior segment mesenchymal dysgenesis">Anterior segment mesenchymal dysgenesis</a></li></ul></li> <li><i><a href="/wiki/FOXF1" title="FOXF1">FOXF1</a></i> <ul><li><a href="/wiki/Alveolar_capillary_dysplasia" title="Alveolar capillary dysplasia">ACD/MPV</a></li></ul></li> <li><i><a href="/wiki/FOXI1" title="FOXI1">FOXI1</a></i> <ul><li><a href="/wiki/Enlarged_vestibular_aqueduct" title="Enlarged vestibular aqueduct">Enlarged vestibular aqueduct</a></li></ul></li> <li><i><a href="/wiki/Forkhead_box_L2" class="mw-redirect" title="Forkhead box L2">FOXL2</a></i> <ul><li><a href="/wiki/Premature_ovarian_failure" class="mw-redirect" title="Premature ovarian failure">Premature ovarian failure 3</a></li></ul></li> <li><i><a href="/wiki/FOXP3" title="FOXP3">FOXP3</a></i> <ul><li><a href="/wiki/IPEX_syndrome" title="IPEX syndrome">IPEX</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">3.5</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/IRF6" title="IRF6">IRF6</a></i> <ul><li><a href="/wiki/Van_der_Woude_syndrome" title="Van der Woude syndrome">Van der Woude syndrome</a></li> <li><a href="/wiki/Popliteal_pterygium_syndrome" title="Popliteal pterygium syndrome">Popliteal pterygium syndrome</a></li></ul></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">(4) β-Scaffold factors<br />with minor groove contacts</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">4.2</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Hyperimmunoglobulin_E_syndrome" title="Hyperimmunoglobulin E syndrome">Hyperimmunoglobulin E syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">4.3</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Holt%E2%80%93Oram_syndrome" title="Holt–Oram syndrome">Holt–Oram syndrome</a></li> <li><a href="/wiki/Li%E2%80%93Fraumeni_syndrome" title="Li–Fraumeni syndrome">Li–Fraumeni syndrome</a></li> <li><a href="/wiki/Ulnar%E2%80%93mammary_syndrome" title="Ulnar–mammary syndrome">Ulnar–mammary syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">4.7</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Campomelic_dysplasia" title="Campomelic dysplasia">Campomelic dysplasia</a></li> <li><a href="/wiki/MODY_3" title="MODY 3">MODY 3</a></li> <li><a href="/wiki/MODY_5" class="mw-redirect" title="MODY 5">MODY 5</a></li> <li><i><a href="/wiki/Steroidogenic_factor_1" title="Steroidogenic factor 1">SF1</a></i> <ul><li><a href="/wiki/XY_gonadal_dysgenesis" title="XY gonadal dysgenesis">SRY XY gonadal dysgenesis</a></li> <li><a href="/wiki/Premature_ovarian_failure" class="mw-redirect" title="Premature ovarian failure">Premature ovarian failure 7</a></li></ul></li> <li><i><a href="/wiki/SOX10" title="SOX10">SOX10</a></i> <ul><li><a href="/wiki/Waardenburg_syndrome" title="Waardenburg syndrome">Waardenburg syndrome 4c</a></li> <li><a href="/wiki/Yemenite_deaf-blind_hypopigmentation_syndrome" title="Yemenite deaf-blind hypopigmentation syndrome">Yemenite deaf-blind hypopigmentation syndrome</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">4.11</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Cleidocranial_dysostosis" title="Cleidocranial dysostosis">Cleidocranial dysostosis</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">(0) Other transcription factors</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th id="0.6" scope="row" class="navbox-group" style="width:1%">0.6</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Kabuki_syndrome" title="Kabuki syndrome">Kabuki syndrome</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Ungrouped</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/TCF4" title="TCF4">TCF4</a></i> <ul><li><a href="/wiki/Pitt%E2%80%93Hopkins_syndrome" title="Pitt–Hopkins syndrome">Pitt–Hopkins syndrome</a></li></ul></li> <li><i><a href="/wiki/ZFP57" title="ZFP57">ZFP57</a></i> <ul><li><a href="/wiki/Transient_neonatal_diabetes_mellitus" class="mw-redirect" title="Transient neonatal diabetes mellitus">TNDM1</a></li></ul></li> <li><i><a href="/wiki/TP63" title="TP63">TP63</a></i> <ul><li><a href="/wiki/Rapp%E2%80%93Hodgkin_syndrome" title="Rapp–Hodgkin syndrome">Rapp–Hodgkin syndrome</a>/<a href="/wiki/Hay%E2%80%93Wells_syndrome" title="Hay–Wells syndrome">Hay–Wells syndrome</a>/<a href="/wiki/Ectrodactyly%E2%80%93ectodermal_dysplasia%E2%80%93cleft_syndrome" title="Ectrodactyly–ectodermal dysplasia–cleft syndrome">Ectrodactyly–ectodermal dysplasia–cleft syndrome 3</a>/<a href="/wiki/Limb%E2%80%93mammary_syndrome" title="Limb–mammary syndrome">Limb–mammary syndrome</a>/<a href="/wiki/Cleft_lip_and_palate" class="mw-redirect" title="Cleft lip and palate">OFC8</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Transcription_coregulator" title="Transcription coregulator">Transcription coregulators</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">Coactivator:</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/CREB-binding_protein" title="CREB-binding protein">CREBBP</a></i> <ul><li><a href="/wiki/Rubinstein%E2%80%93Taybi_syndrome" title="Rubinstein–Taybi syndrome">Rubinstein–Taybi syndrome</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Corepressor:</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/HR_(gene)" title="HR (gene)">HR</a></i> (<a href="/wiki/Atrichia_with_papular_lesions" title="Atrichia with papular lesions">Atrichia with papular lesions</a>)</li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Genetic_disorder,_membrane:_Solute_carrier_disorders" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Solute_carrier_disorders" title="Template:Solute carrier disorders"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Solute_carrier_disorders" title="Template talk:Solute carrier disorders"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Solute_carrier_disorders" title="Special:EditPage/Template:Solute carrier disorders"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Genetic_disorder,_membrane:_Solute_carrier_disorders" style="font-size:114%;margin:0 4em"><a class="mw-selflink selflink">Genetic disorder</a>, membrane: <a href="/wiki/Solute_carrier_family" title="Solute carrier family">Solute carrier</a> disorders</div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%">1-10</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Glutamate_aspartate_transporter" class="mw-redirect" title="Glutamate aspartate transporter">SLC1A3</a></i> <ul><li><a href="/wiki/Episodic_ataxia" title="Episodic ataxia">Episodic ataxia 6</a></li></ul></li> <li><i><a href="/wiki/SLC1A4" class="mw-redirect" title="SLC1A4">SLC1A4</a></i> <ul><li><a href="/wiki/SPATCCM" title="SPATCCM">SPATCCM</a></li></ul></li> <li><i><a href="/wiki/GLUT1" title="GLUT1">SLC2A1</a></i> <ul><li><a href="/wiki/De_Vivo_disease" class="mw-redirect" title="De Vivo disease">De Vivo disease</a></li></ul></li> <li><i><a href="/wiki/GLUT2" title="GLUT2">SLC2A2</a></i> <ul><li><a href="/wiki/Fanconi-Bickel_syndrome" class="mw-redirect" title="Fanconi-Bickel syndrome">Fanconi-Bickel syndrome</a></li></ul></li> <li><i><a href="/wiki/GLUT5" title="GLUT5">SLC2A5</a></i> <ul><li><a href="/wiki/Fructose_malabsorption" title="Fructose malabsorption">Fructose malabsorption</a></li></ul></li> <li><i><a href="/wiki/SLC2A10" title="SLC2A10">SLC2A10</a></i> <ul><li><a href="/wiki/Arterial_tortuosity_syndrome" title="Arterial tortuosity syndrome">Arterial tortuosity syndrome</a></li></ul></li> <li><i><a href="/wiki/SLC3A1" class="mw-redirect" title="SLC3A1">SLC3A1</a></i> <ul><li><a href="/wiki/Cystinuria" title="Cystinuria">Cystinuria</a></li></ul></li> <li><i><a href="/wiki/SLC4A1" class="mw-redirect" title="SLC4A1">SLC4A1</a></i> <ul><li><a href="/wiki/Hereditary_spherocytosis" title="Hereditary spherocytosis">Hereditary spherocytosis 4</a>/<a href="/wiki/Hereditary_elliptocytosis" title="Hereditary elliptocytosis">Hereditary elliptocytosis 4</a></li></ul></li> <li><i><a href="/wiki/SLC4A11" class="mw-redirect" title="SLC4A11">SLC4A11</a></i> <ul><li><a href="/wiki/Congenital_endothelial_dystrophy_type_2" class="mw-redirect" title="Congenital endothelial dystrophy type 2">Congenital endothelial dystrophy type 2</a></li> <li><a href="/wiki/Fuchs%27_dystrophy" title="Fuchs' dystrophy">Fuchs' dystrophy 4</a></li></ul></li> <li><i><a href="/wiki/SLC5A1" class="mw-redirect" title="SLC5A1">SLC5A1</a></i> <ul><li><a href="/wiki/Glucose-galactose_malabsorption" title="Glucose-galactose malabsorption">Glucose-galactose malabsorption</a></li></ul></li> <li><i><a href="/wiki/SLC5A2" class="mw-redirect" title="SLC5A2">SLC5A2</a></i> <ul><li><a href="/wiki/Renal_glycosuria" title="Renal glycosuria">Renal glycosuria</a></li></ul></li> <li><i><a href="/wiki/Sodium-iodide_symporter" class="mw-redirect" title="Sodium-iodide symporter">SLC5A5</a></i> <ul><li><a href="/wiki/Thyroid_dyshormonogenesis" title="Thyroid dyshormonogenesis">Thyroid dyshormonogenesis type 1</a></li></ul></li> <li><i><a href="/wiki/SLC6A19" class="mw-redirect" title="SLC6A19">SLC6A19</a></i> <ul><li><a href="/wiki/Hartnup_disease" title="Hartnup disease">Hartnup disease</a></li></ul></li> <li><i><a href="/wiki/SLC7A7" class="mw-redirect" title="SLC7A7">SLC7A7</a></i> <ul><li><a href="/wiki/Lysinuric_protein_intolerance" title="Lysinuric protein intolerance">Lysinuric protein intolerance</a></li></ul></li> <li><i><a href="/wiki/SLC7A9" class="mw-redirect" title="SLC7A9">SLC7A9</a></i> <ul><li><a href="/wiki/Cystinuria" title="Cystinuria">Cystinuria</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">11-20</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/SLC11A1" class="mw-redirect" title="SLC11A1">SLC11A1</a></i> <ul><li><a href="/wiki/Crohn%27s_disease" title="Crohn's disease">Crohn's disease</a></li></ul></li> <li><i><a href="/wiki/Sodium-chloride_symporter" title="Sodium-chloride symporter">SLC12A3</a></i> <ul><li><a href="/wiki/Gitelman_syndrome" title="Gitelman syndrome">Gitelman syndrome</a></li></ul></li> <li><i><a href="/wiki/SLC16A1" class="mw-redirect" title="SLC16A1">SLC16A1</a></i> <ul><li><a href="/wiki/Hyperinsulinemic_hypoglycemia" title="Hyperinsulinemic hypoglycemia">HHF7</a></li></ul></li> <li><i><a href="/wiki/SLC16A2" class="mw-redirect" title="SLC16A2">SLC16A2</a></i> <ul><li><a href="/wiki/Allan%E2%80%93Herndon%E2%80%93Dudley_syndrome" title="Allan–Herndon–Dudley syndrome">Allan–Herndon–Dudley syndrome</a></li></ul></li> <li><i><a href="/wiki/SLC17A3" title="SLC17A3">SLC17A3</a></i> <ul><li><a href="/wiki/Von_Gierke%27s_disease" class="mw-redirect" title="Von Gierke's disease">Von Gierke's disease</a>, GSD-Ic</li></ul></li> <li><i><a href="/wiki/SLC17A5" class="mw-redirect" title="SLC17A5">SLC17A5</a></i> <ul><li><a href="/wiki/Salla_disease" title="Salla disease">Salla disease</a></li></ul></li> <li><i><a href="/wiki/SLC17A8" class="mw-redirect" title="SLC17A8">SLC17A8</a></i> <ul><li><a href="/wiki/Nonsyndromic_deafness" title="Nonsyndromic deafness">DFNA25</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">21-40</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/SLC26A2" class="mw-redirect" title="SLC26A2">SLC26A2</a></i> <ul><li><a href="/wiki/Multiple_epiphyseal_dysplasia" title="Multiple epiphyseal dysplasia">Multiple epiphyseal dysplasia 4</a></li> <li><a href="/wiki/Achondrogenesis" title="Achondrogenesis">Achondrogenesis</a> <a href="/wiki/Achondrogenesis_type_1B" title="Achondrogenesis type 1B">type 1B</a></li> <li><a href="/wiki/Recessive_multiple_epiphyseal_dysplasia" class="mw-redirect" title="Recessive multiple epiphyseal dysplasia">Recessive multiple epiphyseal dysplasia</a></li> <li><a href="/wiki/Atelosteogenesis,_type_II" title="Atelosteogenesis, type II">Atelosteogenesis, type II</a></li> <li><a href="/wiki/Diastrophic_dysplasia" title="Diastrophic dysplasia">Diastrophic dysplasia</a></li></ul></li> <li><i><a href="/wiki/Pendrin" title="Pendrin">SLC26A4</a></i> <ul><li><a href="/wiki/Pendred_syndrome" title="Pendred syndrome">Pendred syndrome</a></li></ul></li> <li><i><a href="/wiki/SLC35C1" class="mw-redirect" title="SLC35C1">SLC35C1</a></i> <ul><li><a href="/wiki/Congenital_disorder_of_glycosylation" title="Congenital disorder of glycosylation">CDOG 2C</a></li></ul></li> <li><i><a href="/wiki/SLC37A4" class="mw-redirect" title="SLC37A4">SLC37A4</a></i> <ul><li><a href="/wiki/Von_Gierke%27s_disease" class="mw-redirect" title="Von Gierke's disease">Von Gierke's disease</a>, GSD-Ib</li></ul></li> <li><i><a href="/wiki/SLC39A4" class="mw-redirect" title="SLC39A4">SLC39A4</a></i> <ul><li><a href="/wiki/Acrodermatitis_enteropathica" title="Acrodermatitis enteropathica">Acrodermatitis enteropathica</a></li></ul></li> <li><i><a href="/wiki/Ferroportin" title="Ferroportin">SLC40A1</a></i> <ul><li><a href="/wiki/African_iron_overload" title="African iron overload">African iron overload</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">51-60</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/MPC1" class="mw-redirect" title="MPC1">SLC54A1</a></i> (<a href="/wiki/MPC1" class="mw-redirect" title="MPC1">Mitochondrial pyruvate carrier deficiency</a>)</li></ul> </div></td></tr><tr><td class="navbox-abovebelow" colspan="2"><div><i>see also <a href="/wiki/Template:Solute_carrier_family" title="Template:Solute carrier family">solute carrier family</a></i></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Cell_surface_receptor_deficiencies" style="padding:3px"><table class="nowraplinks hlist mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Cell_surface_receptor_deficiencies" title="Template:Cell surface receptor deficiencies"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Cell_surface_receptor_deficiencies" title="Template talk:Cell surface receptor deficiencies"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Cell_surface_receptor_deficiencies" title="Special:EditPage/Template:Cell surface receptor deficiencies"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Cell_surface_receptor_deficiencies" style="font-size:114%;margin:0 4em"><a href="/wiki/Cell_surface_receptor" title="Cell surface receptor">Cell surface receptor</a> deficiencies</div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/G_protein-coupled_receptor" title="G protein-coupled receptor">G protein-coupled receptor</a><br />(including <a href="/wiki/Hormone_receptor" title="Hormone receptor">hormone</a>)</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">Class A</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Thyrotropin_receptor" title="Thyrotropin receptor">TSHR</a></i> (<a href="/wiki/Congenital_hypothyroidism" title="Congenital hypothyroidism">Congenital hypothyroidism 1</a>)</li> <li><i><a href="/wiki/Luteinizing_hormone/choriogonadotropin_receptor" title="Luteinizing hormone/choriogonadotropin receptor">LHCGR</a></i> (<a href="/wiki/Luteinizing_hormone_insensitivity" class="mw-redirect" title="Luteinizing hormone insensitivity">Luteinizing hormone insensitivity</a>, <a href="/wiki/Leydig_cell_hypoplasia" title="Leydig cell hypoplasia">Leydig cell hypoplasia</a>, <a href="/wiki/Male-limited_precocious_puberty" class="mw-redirect" title="Male-limited precocious puberty">Male-limited precocious puberty</a>)</li> <li><i><a href="/wiki/FSH-receptor" class="mw-redirect" title="FSH-receptor">FSHR</a></i> (<a href="/wiki/Follicle-stimulating_hormone_insensitivity" title="Follicle-stimulating hormone insensitivity">Follicle-stimulating hormone insensitivity</a>, <a href="/wiki/XX_gonadal_dysgenesis" title="XX gonadal dysgenesis">XX gonadal dysgenesis</a>)</li> <li><i><a href="/wiki/Gonadotropin-releasing_hormone_receptor" title="Gonadotropin-releasing hormone receptor">GnRHR</a></i> (<a href="/wiki/Gonadotropin-releasing_hormone_insensitivity" title="Gonadotropin-releasing hormone insensitivity">Gonadotropin-releasing hormone insensitivity</a>)</li> <li><i><a href="/wiki/Endothelin_receptor" title="Endothelin receptor">EDNRB</a></i> (<a href="/wiki/ABCD_syndrome" title="ABCD syndrome">ABCD syndrome</a>, <a href="/wiki/Waardenburg_syndrome" title="Waardenburg syndrome">Waardenburg syndrome 4a</a>, <a href="/wiki/Hirschsprung%27s_disease" title="Hirschsprung's disease">Hirschsprung's disease 2</a>)</li> <li><i><a href="/wiki/AVPR2" class="mw-redirect" title="AVPR2">AVPR2</a></i> (<a href="/wiki/Nephrogenic_diabetes_insipidus" title="Nephrogenic diabetes insipidus">Nephrogenic diabetes insipidus 1</a>)</li> <li><i><a href="/wiki/Prostaglandin_E2_receptor" title="Prostaglandin E2 receptor">PTGER2</a></i> (<a href="/wiki/Aspirin-exacerbated_respiratory_disease" title="Aspirin-exacerbated respiratory disease">Aspirin-exacerbated respiratory disease</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Class B</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/PTH1R" class="mw-redirect" title="PTH1R">PTH1R</a></i> (<a href="/wiki/Jansen%27s_metaphyseal_chondrodysplasia" title="Jansen's metaphyseal chondrodysplasia">Jansen's metaphyseal chondrodysplasia</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Class C</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Calcium-sensing_receptor" title="Calcium-sensing receptor">CASR</a></i> (<a href="/wiki/Familial_hypocalciuric_hypercalcemia" title="Familial hypocalciuric hypercalcemia">Familial hypocalciuric hypercalcemia</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Class F</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/FZD4" class="mw-redirect" title="FZD4">FZD4</a></i> (<a href="/wiki/Familial_exudative_vitreoretinopathy" title="Familial exudative vitreoretinopathy">Familial exudative vitreoretinopathy 1</a>)</li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Enzyme-linked_receptor" title="Enzyme-linked receptor">Enzyme-linked receptor</a><br />(including<br /><a href="/wiki/Growth_factor_receptor" title="Growth factor receptor">growth factor</a>)</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Receptor_tyrosine_kinase" title="Receptor tyrosine kinase">RTK</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/ROR2" title="ROR2">ROR2</a></i> (<a href="/wiki/Robinow_syndrome" title="Robinow syndrome">Robinow syndrome</a>)</li> <li><i><a href="/wiki/Fibroblast_growth_factor_receptor_1" title="Fibroblast growth factor receptor 1">FGFR1</a></i> (<a href="/wiki/Pfeiffer_syndrome" title="Pfeiffer syndrome">Pfeiffer syndrome</a>, <a href="/wiki/Kallmann_syndrome" title="Kallmann syndrome">KAL2 Kallmann syndrome</a>)</li> <li><i><a href="/wiki/Fibroblast_growth_factor_receptor_2" title="Fibroblast growth factor receptor 2">FGFR2</a></i> (<a href="/wiki/Apert_syndrome" title="Apert syndrome">Apert syndrome</a>, <a href="/wiki/Antley%E2%80%93Bixler_syndrome" title="Antley–Bixler syndrome">Antley–Bixler syndrome</a>, <a href="/wiki/Pfeiffer_syndrome" title="Pfeiffer syndrome">Pfeiffer syndrome</a>, <a href="/wiki/Crouzon_syndrome" title="Crouzon syndrome">Crouzon syndrome</a>, <a href="/wiki/Jackson%E2%80%93Weiss_syndrome" title="Jackson–Weiss syndrome">Jackson–Weiss syndrome</a>)</li> <li><i><a href="/wiki/Fibroblast_growth_factor_receptor_3" title="Fibroblast growth factor receptor 3">FGFR3</a></i> (<a href="/wiki/Achondroplasia" title="Achondroplasia">Achondroplasia</a>, <a href="/wiki/Hypochondroplasia" title="Hypochondroplasia">Hypochondroplasia</a>, <a href="/wiki/Thanatophoric_dysplasia" title="Thanatophoric dysplasia">Thanatophoric dysplasia</a>, <a href="/wiki/Muenke_syndrome" title="Muenke syndrome">Muenke syndrome</a>)</li> <li><i><a href="/wiki/Insulin_receptor" title="Insulin receptor">INSR</a></i> (<a href="/wiki/Donohue_syndrome" title="Donohue syndrome">Donohue syndrome</a></li> <li><a href="/wiki/Rabson%E2%80%93Mendenhall_syndrome" title="Rabson–Mendenhall syndrome">Rabson–Mendenhall syndrome</a>)</li> <li><i><a href="/wiki/TrkA_receptor" class="mw-redirect" title="TrkA receptor">NTRK1</a></i> (<a href="/wiki/Congenital_insensitivity_to_pain_with_anhidrosis" title="Congenital insensitivity to pain with anhidrosis">Congenital insensitivity to pain with anhidrosis</a>)</li> <li><i><a href="/wiki/CD117" class="mw-redirect" title="CD117">KIT</a></i> (<a href="/wiki/Piebaldism" title="Piebaldism">KIT Piebaldism</a>, <a href="/wiki/Gastrointestinal_stromal_tumor" title="Gastrointestinal stromal tumor">Gastrointestinal stromal tumor</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Serine/threonine-specific_protein_kinase" title="Serine/threonine-specific protein kinase">STPK</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Anti-M%C3%BCllerian_hormone_receptor" title="Anti-Müllerian hormone receptor">AMHR2</a></i> (<a href="/wiki/Persistent_M%C3%BCllerian_duct_syndrome" title="Persistent Müllerian duct syndrome">Persistent Müllerian duct syndrome II</a>)</li></ul> <ul><li><a href="/wiki/TGF_beta_receptors" class="mw-redirect" title="TGF beta receptors">TGF beta receptors</a>: <a href="/wiki/Endoglin" title="Endoglin">Endoglin</a>/<a href="/wiki/ACVRL1" title="ACVRL1">Alk-1</a>/<a href="/wiki/Mothers_against_decapentaplegic_homolog_4" title="Mothers against decapentaplegic homolog 4">SMAD4</a> (<a href="/wiki/Hereditary_hemorrhagic_telangiectasia" title="Hereditary hemorrhagic telangiectasia">Hereditary hemorrhagic telangiectasia</a>)</li> <li><a href="/wiki/TGF_beta_receptor_1" title="TGF beta receptor 1">TGFBR1</a>/<a href="/wiki/TGF_beta_receptor_2" title="TGF beta receptor 2">TGFBR2</a> (<a href="/wiki/Loeys%E2%80%93Dietz_syndrome" title="Loeys–Dietz syndrome">Loeys–Dietz syndrome</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Guanylate_cyclase" title="Guanylate cyclase">GC</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/GUCY2D" title="GUCY2D">GUCY2D</a></i> (<a href="/wiki/Leber%27s_congenital_amaurosis" class="mw-redirect" title="Leber's congenital amaurosis">Leber's congenital amaurosis 1</a>)</li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/JAK-STAT_signaling_pathway" title="JAK-STAT signaling pathway">JAK-STAT</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Type_I_cytokine_receptor" title="Type I cytokine receptor">Type I cytokine receptor</a>: <i><a href="/wiki/Growth_hormone_receptor" title="Growth hormone receptor">GH</a></i> (<a href="/wiki/Laron_syndrome" title="Laron syndrome">Laron syndrome</a>)</li> <li><i><a href="/wiki/Granulocyte_macrophage_colony-stimulating_factor_receptor" class="mw-redirect" title="Granulocyte macrophage colony-stimulating factor receptor">CSF2RA</a></i> (<a href="/wiki/Surfactant_metabolism_dysfunction" title="Surfactant metabolism dysfunction">Surfactant metabolism dysfunction 4</a>)</li></ul> <ul><li><a href="/wiki/Myeloproliferative_leukemia_virus_oncogene" class="mw-redirect" title="Myeloproliferative leukemia virus oncogene">MPL</a> (<a href="/wiki/Congenital_amegakaryocytic_thrombocytopenia" title="Congenital amegakaryocytic thrombocytopenia">Congenital amegakaryocytic thrombocytopenia</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Tumor_necrosis_factor_receptor" class="mw-redirect" title="Tumor necrosis factor receptor">TNF receptor</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/TNFRSF1A" class="mw-redirect" title="TNFRSF1A">TNFRSF1A</a></i> (<a href="/wiki/TNF_receptor_associated_periodic_syndrome" title="TNF receptor associated periodic syndrome">TNF receptor associated periodic syndrome</a>)</li> <li><i><a href="/wiki/TNFRSF13B" class="mw-redirect" title="TNFRSF13B">TNFRSF13B</a></i> (<a href="/wiki/Selective_immunoglobulin_A_deficiency" title="Selective immunoglobulin A deficiency">Selective immunoglobulin A deficiency 2</a>)</li> <li><i><a href="/wiki/CD40_(protein)" title="CD40 (protein)">TNFRSF5</a></i> (<a href="/wiki/Hyper-IgM_syndrome_type_3" title="Hyper-IgM syndrome type 3">Hyper-IgM syndrome type 3</a>)</li> <li><i><a href="/wiki/TNFRSF13C" class="mw-redirect" title="TNFRSF13C">TNFRSF13C</a></i> (<a href="/wiki/Common_variable_immunodeficiency" title="Common variable immunodeficiency">CVID4</a>)</li> <li><i><a href="/wiki/TNFRSF13B" class="mw-redirect" title="TNFRSF13B">TNFRSF13B</a></i> (<a href="/wiki/Common_variable_immunodeficiency" title="Common variable immunodeficiency">CVID2</a>)</li> <li><i><a href="/wiki/Fas_receptor" title="Fas receptor">TNFRSF6</a></i> (<a href="/wiki/Autoimmune_lymphoproliferative_syndrome" title="Autoimmune lymphoproliferative syndrome">Autoimmune lymphoproliferative syndrome 1A</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Lipid receptor</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Lipoprotein_receptor-related_protein" title="Lipoprotein receptor-related protein">LRP</a>: <i><a href="/wiki/LRP2" title="LRP2">LRP2</a></i> (<a href="/wiki/Donnai%E2%80%93Barrow_syndrome" title="Donnai–Barrow syndrome">Donnai–Barrow syndrome</a>)</li> <li><i><a href="/wiki/Low_density_lipoprotein_receptor-related_protein_4" class="mw-redirect" title="Low density lipoprotein receptor-related protein 4">LRP4</a></i> (<a href="/wiki/Cenani%E2%80%93Lenz_syndactylism" title="Cenani–Lenz syndactylism">Cenani–Lenz syndactylism</a>)</li> <li><i><a href="/wiki/LRP5" title="LRP5">LRP5</a></i> (<a href="/wiki/Worth_syndrome" title="Worth syndrome">Worth syndrome</a>, <a href="/wiki/Familial_exudative_vitreoretinopathy" title="Familial exudative vitreoretinopathy">Familial exudative vitreoretinopathy 4</a>, <a href="/wiki/Osteopetrosis" title="Osteopetrosis">Osteopetrosis 1</a>)</li></ul> <ul><li><i><a href="/wiki/LDL_receptor" title="LDL receptor">LDLR</a></i> (<a href="/wiki/Familial_hypercholesterolemia" title="Familial hypercholesterolemia">LDLR Familial hypercholesterolemia</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other/ungrouped</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Immunoglobulin_superfamily" title="Immunoglobulin superfamily">Immunoglobulin superfamily</a>: <a href="/wiki/Hypogammaglobulinemia" title="Hypogammaglobulinemia">AGM3, 6</a></li></ul> <ul><li><a href="/wiki/Integrin" title="Integrin">Integrin</a>: <a href="/wiki/Leukocyte_adhesion_deficiency-1" title="Leukocyte adhesion deficiency-1">LAD1</a></li> <li><a href="/wiki/Glanzmann%27s_thrombasthenia" title="Glanzmann's thrombasthenia">Glanzmann's thrombasthenia</a></li> <li><a href="/wiki/Junctional_epidermolysis_bullosa_with_pyloric_atresia" class="mw-redirect" title="Junctional epidermolysis bullosa with pyloric atresia">Junctional epidermolysis bullosa with pyloric atresia</a></li></ul> <p><i><a href="/wiki/EDAR" class="mw-redirect" title="EDAR">EDAR</a></i> (<a href="/wiki/Hypohidrotic_ectodermal_dysplasia" title="Hypohidrotic ectodermal dysplasia">EDAR hypohidrotic ectodermal dysplasia</a>) </p> <ul><li><i><a href="/wiki/PTCH1" title="PTCH1">PTCH1</a></i> (<a href="/wiki/Nevoid_basal-cell_carcinoma_syndrome" title="Nevoid basal-cell carcinoma syndrome">Nevoid basal-cell carcinoma syndrome</a>)</li> <li><i><a href="/wiki/BMPR1A" title="BMPR1A">BMPR1A</a></i> (<a href="/wiki/Juvenile_polyposis_syndrome" title="Juvenile polyposis syndrome">BMPR1A juvenile polyposis syndrome</a>)</li> <li><i><a href="/wiki/IL2RG" class="mw-redirect" title="IL2RG">IL2RG</a></i> (<a href="/wiki/X-linked_severe_combined_immunodeficiency" title="X-linked severe combined immunodeficiency">X-linked severe combined immunodeficiency</a>)</li></ul> <dl><dt>See also</dt> <dd><a href="/wiki/Template:Cell_surface_receptors" title="Template:Cell surface receptors">cell surface receptors</a></dd></dl> </div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Diseases_of_ion_channels" style="padding:3px"><table class="nowraplinks hlist mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Channelopathy" title="Template:Channelopathy"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Channelopathy" title="Template talk:Channelopathy"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Channelopathy" title="Special:EditPage/Template:Channelopathy"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Diseases_of_ion_channels" style="font-size:114%;margin:0 4em"><a href="/wiki/Channelopathy" title="Channelopathy">Diseases of ion channels</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Calcium_channel" title="Calcium channel">Calcium channel</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Voltage-dependent_calcium_channel" class="mw-redirect" title="Voltage-dependent calcium channel">Voltage-gated</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Cav2.1" title="Cav2.1">CACNA1A</a></i> <ul><li><a href="/wiki/Familial_hemiplegic_migraine" title="Familial hemiplegic migraine">Familial hemiplegic migraine 1</a></li> <li><a href="/wiki/Episodic_ataxia" title="Episodic ataxia">Episodic ataxia 2</a></li> <li><a href="/wiki/Spinocerebellar_ataxia_type-6" class="mw-redirect" title="Spinocerebellar ataxia type-6">Spinocerebellar ataxia type-6</a></li></ul></li> <li><i><a href="/wiki/Cav1.2" title="Cav1.2">CACNA1C</a></i> <ul><li><a href="/wiki/Timothy_syndrome" title="Timothy syndrome">Timothy syndrome</a></li> <li><a href="/wiki/Brugada_syndrome" title="Brugada syndrome">Brugada syndrome 3</a></li> <li><a href="/wiki/Long_QT_syndrome" title="Long QT syndrome">Long QT syndrome 8</a></li></ul></li> <li><i><a href="/wiki/Cav1.4" title="Cav1.4">CACNA1F</a></i> <ul><li><a href="/wiki/Ocular_albinism" title="Ocular albinism">Ocular albinism 2</a></li> <li><a href="/wiki/X-linked_congenital_stationary_night_blindness" class="mw-redirect" title="X-linked congenital stationary night blindness">CSNB2A</a></li></ul></li> <li><i><a href="/wiki/Cav1.1" title="Cav1.1">CACNA1S</a></i> <ul><li><a href="/wiki/Hypokalemic_periodic_paralysis" title="Hypokalemic periodic paralysis">Hypokalemic periodic paralysis 1</a></li> <li><a href="/wiki/Thyrotoxic_periodic_paralysis" title="Thyrotoxic periodic paralysis">Thyrotoxic periodic paralysis 1</a></li></ul></li> <li><i><a href="/wiki/CACNB2" title="CACNB2">CACNB2</a></i> <ul><li><a href="/wiki/Brugada_syndrome" title="Brugada syndrome">Brugada syndrome 4</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Ligand gated</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/RYR1" class="mw-redirect" title="RYR1">RYR1</a></i> <ul><li><a href="/wiki/Malignant_hyperthermia" title="Malignant hyperthermia">Malignant hyperthermia</a></li> <li><a href="/wiki/Central_core_disease" title="Central core disease">Central core disease</a></li></ul></li> <li><i><a href="/wiki/RYR2" class="mw-redirect" title="RYR2">RYR2</a></i> <ul><li><a href="/wiki/Catecholaminergic_polymorphic_ventricular_tachycardia" title="Catecholaminergic polymorphic ventricular tachycardia">CPVT1</a></li> <li><a href="/wiki/Arrhythmogenic_right_ventricular_dysplasia" class="mw-redirect" title="Arrhythmogenic right ventricular dysplasia">ARVD2</a></li></ul></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Sodium_channel" title="Sodium channel">Sodium channel</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">Voltage-gated</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/SCN1A" title="SCN1A">SCN1A</a></i> <ul><li><a href="/wiki/Familial_hemiplegic_migraine" title="Familial hemiplegic migraine">Familial hemiplegic migraine 3</a></li> <li><a href="/wiki/Generalized_epilepsy_with_febrile_seizures_plus" title="Generalized epilepsy with febrile seizures plus">GEFS+ 2</a></li> <li><a href="/wiki/Febrile_seizure" title="Febrile seizure">Febrile seizure 3A</a></li></ul></li> <li><i><a href="/wiki/SCN1B" title="SCN1B">SCN1B</a></i> <ul><li><a href="/wiki/Brugada_syndrome" title="Brugada syndrome">Brugada syndrome 6</a></li> <li><a href="/wiki/Generalized_epilepsy_with_febrile_seizures_plus" title="Generalized epilepsy with febrile seizures plus">GEFS+ 1</a></li></ul></li> <li><i><a href="/wiki/SCN4A" class="mw-redirect" title="SCN4A">SCN4A</a></i> <ul><li><a href="/wiki/Hypokalemic_periodic_paralysis" title="Hypokalemic periodic paralysis">Hypokalemic periodic paralysis 2</a></li> <li><a href="/wiki/Hyperkalemic_periodic_paralysis" title="Hyperkalemic periodic paralysis">Hyperkalemic periodic paralysis</a></li> <li><a href="/wiki/Paramyotonia_congenita" title="Paramyotonia congenita">Paramyotonia congenita</a></li> <li><a href="/wiki/Potassium-aggravated_myotonia" title="Potassium-aggravated myotonia">Potassium-aggravated myotonia</a></li></ul></li> <li><i><a href="/wiki/SCN4B" title="SCN4B">SCN4B</a></i> <ul><li><a href="/wiki/Long_QT_syndrome" title="Long QT syndrome">Long QT syndrome 10</a></li></ul></li> <li><i><a href="/wiki/SCN5A" title="SCN5A">SCN5A</a></i> <ul><li><a href="/wiki/Brugada_syndrome" title="Brugada syndrome">Brugada syndrome 1</a></li> <li><a href="/wiki/Long_QT_syndrome" title="Long QT syndrome">Long QT syndrome 3</a></li></ul></li> <li><i><a href="/wiki/SCN9A" class="mw-redirect" title="SCN9A">SCN9A</a></i> <ul><li><a href="/wiki/Erythromelalgia" title="Erythromelalgia">Erythromelalgia</a></li> <li><a href="/wiki/Febrile_seizure" title="Febrile seizure">Febrile seizure 3B</a></li> <li><a href="/wiki/Paroxysmal_extreme_pain_disorder" title="Paroxysmal extreme pain disorder">Paroxysmal extreme pain disorder</a></li> <li><a href="/wiki/Congenital_insensitivity_to_pain" title="Congenital insensitivity to pain">Congenital insensitivity to pain</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Epithelial_sodium_channel" title="Epithelial sodium channel">Constitutively active</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/SCNN1B" title="SCNN1B">SCNN1B</a></i>/<i><a href="/wiki/SCNN1G" title="SCNN1G">SCNN1G</a></i> <ul><li><a href="/wiki/Liddle%27s_syndrome" title="Liddle's syndrome">Liddle's syndrome</a></li></ul></li> <li><i><a href="/wiki/SCNN1A" title="SCNN1A">SCNN1A</a></i>/<i><a href="/wiki/SCNN1B" title="SCNN1B">SCNN1B</a></i>/<i><a href="/wiki/SCNN1G" title="SCNN1G">SCNN1G</a></i> <ul><li><a href="/wiki/Pseudohypoaldosteronism" title="Pseudohypoaldosteronism">Pseudohypoaldosteronism 1AR</a></li></ul></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Potassium_channel" title="Potassium channel">Potassium channel</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Voltage-gated_potassium_channel" title="Voltage-gated potassium channel">Voltage-gated</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/KCNA1" class="mw-redirect" title="KCNA1">KCNA1</a></i> <ul><li><a href="/wiki/Episodic_ataxia" title="Episodic ataxia">Episodic ataxia 1</a></li></ul></li> <li><i><a href="/wiki/KCNA5" title="KCNA5">KCNA5</a></i> <ul><li><a href="/wiki/Familial_atrial_fibrillation" title="Familial atrial fibrillation">Familial atrial fibrillation 7</a></li></ul></li> <li><i><a href="/wiki/KCNC3" title="KCNC3">KCNC3</a></i> <ul><li><a href="/wiki/Spinocerebellar_ataxia_type-13" title="Spinocerebellar ataxia type-13">Spinocerebellar ataxia type-13</a></li></ul></li> <li><i><a href="/wiki/KCNE1" title="KCNE1">KCNE1</a></i> <ul><li><a href="/wiki/Jervell_and_Lange-Nielsen_syndrome" title="Jervell and Lange-Nielsen syndrome">Jervell and Lange-Nielsen syndrome</a></li> <li><a href="/wiki/Long_QT_syndrome" title="Long QT syndrome">Long QT syndrome 5</a></li></ul></li> <li><i><a href="/wiki/KCNE2" title="KCNE2">KCNE2</a></i> <ul><li><a href="/wiki/Long_QT_syndrome" title="Long QT syndrome">Long QT syndrome 6</a></li></ul></li> <li><i><a href="/wiki/KCNE3" title="KCNE3">KCNE3</a></i> <ul><li><a href="/wiki/Brugada_syndrome" title="Brugada syndrome">Brugada syndrome 5</a></li></ul></li> <li><i><a href="/wiki/KCNH2" class="mw-redirect" title="KCNH2">KCNH2</a></i> <ul><li><a href="/wiki/Short_QT_syndrome" title="Short QT syndrome">Short QT syndrome</a></li></ul></li> <li><i><a href="/wiki/KCNQ1" class="mw-redirect" title="KCNQ1">KCNQ1</a></i> <ul><li><a href="/wiki/Jervell_and_Lange-Nielsen_syndrome" title="Jervell and Lange-Nielsen syndrome">Jervell and Lange-Nielsen syndrome</a></li> <li><a href="/wiki/Romano%E2%80%93Ward_syndrome" title="Romano–Ward syndrome">Romano–Ward syndrome</a></li> <li><a href="/wiki/Short_QT_syndrome" title="Short QT syndrome">Short QT syndrome</a></li> <li><a href="/wiki/Long_QT_syndrome" title="Long QT syndrome">Long QT syndrome 1</a></li> <li><a href="/wiki/Familial_atrial_fibrillation" title="Familial atrial fibrillation">Familial atrial fibrillation 3</a></li></ul></li> <li><i><a href="/wiki/KCNQ2" class="mw-redirect" title="KCNQ2">KCNQ2</a></i> <ul><li><a href="/wiki/Benign_familial_neonatal_epilepsy" class="mw-redirect" title="Benign familial neonatal epilepsy">BFNS1</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Inward-rectifier_potassium_ion_channel" class="mw-redirect" title="Inward-rectifier potassium ion channel">Inward-rectifier</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/ROMK" title="ROMK">KCNJ1</a></i> <ul><li><a href="/wiki/Bartter_syndrome" title="Bartter syndrome">Bartter syndrome 2</a></li></ul></li> <li><i><a href="/wiki/KCNJ2" class="mw-redirect" title="KCNJ2">KCNJ2</a></i> <ul><li><a href="/wiki/Andersen%E2%80%93Tawil_syndrome" title="Andersen–Tawil syndrome">Andersen–Tawil syndrome</a></li> <li><a href="/wiki/Long_QT_syndrome" title="Long QT syndrome">Long QT syndrome 7</a></li> <li><a href="/wiki/Short_QT_syndrome" title="Short QT syndrome">Short QT syndrome</a></li></ul></li> <li><i><a href="/wiki/Kir6.2" title="Kir6.2">KCNJ11</a></i> <ul><li><a href="/wiki/Transient_neonatal_diabetes_mellitus" class="mw-redirect" title="Transient neonatal diabetes mellitus">TNDM3</a></li></ul></li> <li><i><a href="/wiki/KCNJ18" class="mw-redirect" title="KCNJ18">KCNJ18</a></i> <ul><li><a href="/wiki/Thyrotoxic_periodic_paralysis" title="Thyrotoxic periodic paralysis">Thyrotoxic periodic paralysis 2</a></li></ul></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Chloride_channel" title="Chloride channel">Chloride channel</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Cystic_fibrosis_transmembrane_conductance_regulator" title="Cystic fibrosis transmembrane conductance regulator">CFTR</a></i> <ul><li><a href="/wiki/Cystic_fibrosis" title="Cystic fibrosis">Cystic fibrosis</a></li> <li><a href="/wiki/Congenital_absence_of_the_vas_deferens" title="Congenital absence of the vas deferens">Congenital absence of the vas deferens</a></li></ul></li> <li><i><a href="/wiki/CLCN1" title="CLCN1">CLCN1</a></i> <ul><li><a href="/wiki/Thomsen_disease" class="mw-redirect" title="Thomsen disease">Thomsen disease</a></li> <li><a href="/wiki/Myotonia_congenita" title="Myotonia congenita">Myotonia congenita</a></li></ul></li> <li><i><a href="/wiki/CLCN5" title="CLCN5">CLCN5</a></i> <ul><li><a href="/wiki/Dent%27s_disease" title="Dent's disease">Dent's disease</a></li></ul></li> <li><i><a href="/wiki/CLCN7" title="CLCN7">CLCN7</a></i> <ul><li><a href="/wiki/Osteopetrosis" title="Osteopetrosis">Osteopetrosis A2, B4</a></li></ul></li> <li><i><a href="/wiki/Bestrophin_1" title="Bestrophin 1">BEST1</a></i> <ul><li><a href="/wiki/Vitelliform_macular_dystrophy" title="Vitelliform macular dystrophy">Vitelliform macular dystrophy</a></li></ul></li> <li><i><a href="/wiki/CLCNKB" title="CLCNKB">CLCNKB</a></i> <ul><li><a href="/wiki/Bartter_syndrome" title="Bartter syndrome">Bartter syndrome 3</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Transient_receptor_potential_channel" title="Transient receptor potential channel">TRP channel</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/TRPC6" title="TRPC6">TRPC6</a></i> <ul><li><a href="/wiki/Focal_segmental_glomerulosclerosis" title="Focal segmental glomerulosclerosis">FSGS2</a></li></ul></li> <li><i><a href="/wiki/MCOLN1" title="MCOLN1">TRPML1</a></i> <ul><li><a href="/wiki/Mucolipidosis_type_IV" title="Mucolipidosis type IV">Mucolipidosis type IV</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Connexin" title="Connexin">Connexin</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Gap_junction_protein,_alpha_1" class="mw-redirect" title="Gap junction protein, alpha 1">GJA1</a></i> <ul><li><a href="/wiki/Oculodentodigital_dysplasia" title="Oculodentodigital dysplasia">Oculodentodigital dysplasia</a></li> <li><a href="/wiki/Hallermann%E2%80%93Streiff_syndrome" title="Hallermann–Streiff syndrome">Hallermann–Streiff syndrome</a></li> <li><a href="/wiki/Hypoplastic_left_heart_syndrome" title="Hypoplastic left heart syndrome">Hypoplastic left heart syndrome</a></li></ul></li> <li><i><a href="/wiki/GJB1" title="GJB1">GJB1</a></i> <ul><li><a href="/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease" title="Charcot–Marie–Tooth disease">Charcot–Marie–Tooth disease X1</a></li></ul></li> <li><i><a href="/wiki/GJB2" title="GJB2">GJB2</a></i> <ul><li><a href="/wiki/Keratitis%E2%80%93ichthyosis%E2%80%93deafness_syndrome" title="Keratitis–ichthyosis–deafness syndrome">Keratitis–ichthyosis–deafness syndrome</a></li> <li><a href="/wiki/Ichthyosis_hystrix" title="Ichthyosis hystrix">Ichthyosis hystrix</a></li> <li><a href="/wiki/Bart%E2%80%93Pumphrey_syndrome" title="Bart–Pumphrey syndrome">Bart–Pumphrey syndrome</a></li> <li><a href="/wiki/Vohwinkel_syndrome" class="mw-redirect" title="Vohwinkel syndrome">Vohwinkel syndrome</a>)</li></ul></li> <li><i><a href="/wiki/GJB3" title="GJB3">GJB3</a>/<a href="/wiki/GJB4" title="GJB4">GJB4</a></i> <ul><li><a href="/wiki/Erythrokeratodermia_variabilis" title="Erythrokeratodermia variabilis">Erythrokeratodermia variabilis</a></li> <li><a href="/wiki/Progressive_symmetric_erythrokeratodermia" title="Progressive symmetric erythrokeratodermia">Progressive symmetric erythrokeratodermia</a></li></ul></li> <li><i><a href="/wiki/GJB6" title="GJB6">GJB6</a></i> <ul><li><a href="/wiki/Clouston%27s_hidrotic_ectodermal_dysplasia" title="Clouston's hidrotic ectodermal dysplasia">Clouston's hidrotic ectodermal dysplasia</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Porin_(protein)" title="Porin (protein)">Porin</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Aquaporin_2" class="mw-redirect" title="Aquaporin 2">AQP2</a></i> <ul><li><a href="/wiki/Nephrogenic_diabetes_insipidus" title="Nephrogenic diabetes insipidus">Nephrogenic diabetes insipidus 2</a></li></ul></li></ul> </div></td></tr><tr><td class="navbox-abovebelow" colspan="2"><div><i>See also: <a href="/wiki/Template:Ion_channels" title="Template:Ion channels">ion channels</a></i></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Genetic_disorder,_organelle:_Peroxisomal_disorders_and_lysosomal_structural_disorders" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Peroxisomal_disorders" title="Template:Peroxisomal disorders"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Peroxisomal_disorders" title="Template talk:Peroxisomal disorders"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Peroxisomal_disorders" title="Special:EditPage/Template:Peroxisomal disorders"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Genetic_disorder,_organelle:_Peroxisomal_disorders_and_lysosomal_structural_disorders" style="font-size:114%;margin:0 4em"><a class="mw-selflink selflink">Genetic disorder</a>, organelle: <a href="/wiki/Peroxisomal_disorder" title="Peroxisomal disorder">Peroxisomal disorders</a> and lysosomal structural disorders</div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Peroxisome_biogenesis_disorder" class="mw-redirect" title="Peroxisome biogenesis disorder">Peroxisome biogenesis disorder</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Zellweger_syndrome" title="Zellweger syndrome">Zellweger syndrome</a></li> <li><a href="/wiki/Neonatal_adrenoleukodystrophy" title="Neonatal adrenoleukodystrophy">Neonatal adrenoleukodystrophy</a></li> <li><a href="/wiki/Infantile_Refsum_disease" title="Infantile Refsum disease">Infantile Refsum disease</a></li> <li><a href="/wiki/Refsum_disease" title="Refsum disease">Adult Refsum disease-2</a></li> <li><a href="/wiki/Rhizomelic_chondrodysplasia_punctata" title="Rhizomelic chondrodysplasia punctata">RCP 1</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Enzyme-related</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Acatalasia" title="Acatalasia">Acatalasia</a></li> <li><a href="/wiki/Rhizomelic_chondrodysplasia_punctata" title="Rhizomelic chondrodysplasia punctata">RCP 2&3</a></li> <li><a href="/wiki/Mevalonate_kinase_deficiency" title="Mevalonate kinase deficiency">Mevalonate kinase deficiency</a></li> <li><a href="/wiki/D-bifunctional_protein_deficiency" title="D-bifunctional protein deficiency">D-bifunctional protein deficiency</a></li> <li><a href="/wiki/Refsum_disease" title="Refsum disease">Adult Refsum disease-1</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Transporter-related</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Adrenoleukodystrophy" title="Adrenoleukodystrophy">X-linked adrenoleukodystrophy</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Lysosomal</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Danon_disease" title="Danon disease">Danon disease</a></li></ul> </div></td></tr><tr><td class="navbox-abovebelow" colspan="2"><div><i>See also: <a href="/wiki/Template:Peroxisomal_proteins" title="Template:Peroxisomal proteins">proteins</a>, <a href="/wiki/Template:Peroxisomal_metabolism_intermediates" class="mw-redirect" title="Template:Peroxisomal metabolism intermediates">intermediates</a></i></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Diseases_of_cilia" style="padding:3px"><table class="nowraplinks hlist mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Ciliopathy" title="Template:Ciliopathy"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Ciliopathy" title="Template talk:Ciliopathy"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Ciliopathy" title="Special:EditPage/Template:Ciliopathy"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Diseases_of_cilia" style="font-size:114%;margin:0 4em"><a href="/wiki/Ciliopathy" title="Ciliopathy">Diseases of cilia</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%">Structural</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i>receptor:</i> <a href="/wiki/Polycystic_kidney_disease" title="Polycystic kidney disease">Polycystic kidney disease</a></li></ul> <ul><li><i>cargo:</i> <a href="/wiki/Asphyxiating_thoracic_dysplasia" title="Asphyxiating thoracic dysplasia">Asphyxiating thoracic dysplasia</a></li></ul> <ul><li><i><a href="/wiki/Basal_body" title="Basal body">basal body</a></i>: <a href="/wiki/Bardet%E2%80%93Biedl_syndrome" title="Bardet–Biedl syndrome">Bardet–Biedl syndrome</a></li></ul> <ul><li><i><a href="/wiki/Mitotic_spindle" class="mw-redirect" title="Mitotic spindle">mitotic spindle</a>:</i> <a href="/wiki/Meckel_syndrome" class="mw-redirect" title="Meckel syndrome">Meckel syndrome</a></li></ul> <ul><li><i><a href="/wiki/Centrosome" title="Centrosome">centrosome</a></i>: <a href="/wiki/Joubert_syndrome" title="Joubert syndrome">Joubert syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Signaling</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Nephronophthisis" title="Nephronophthisis">Nephronophthisis</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other/ungrouped</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Alstr%C3%B6m_syndrome" title="Alström syndrome">Alström syndrome</a></li> <li><a href="/wiki/Primary_ciliary_dyskinesia" title="Primary ciliary dyskinesia">Primary ciliary dyskinesia</a></li> <li><a href="/wiki/Senior%E2%80%93L%C3%B8ken_syndrome" title="Senior–Løken syndrome">Senior–Løken syndrome</a></li> <li><a href="/wiki/Orofaciodigital_syndrome_1" title="Orofaciodigital syndrome 1">Orofaciodigital syndrome 1</a></li> <li><a href="/wiki/McKusick%E2%80%93Kaufman_syndrome" title="McKusick–Kaufman syndrome">McKusick–Kaufman syndrome</a></li> <li><a href="/wiki/Autosomal_recessive_polycystic_kidney" class="mw-redirect" title="Autosomal recessive polycystic kidney">Autosomal recessive polycystic kidney</a></li></ul> </div></td></tr><tr><td class="navbox-abovebelow" colspan="2" style="padding:0;"><div><i>See also: <a href="/wiki/Template:Ciliary_proteins" title="Template:Ciliary proteins">ciliary proteins</a></i></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Diseases_of_collagen,_laminin_and_other_scleroproteins" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Scleroprotein_disease" title="Template:Scleroprotein disease"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Scleroprotein_disease" title="Template talk:Scleroprotein disease"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Scleroprotein_disease" title="Special:EditPage/Template:Scleroprotein disease"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Diseases_of_collagen,_laminin_and_other_scleroproteins" style="font-size:114%;margin:0 4em">Diseases of <a href="/wiki/Collagen" title="Collagen">collagen</a>, <a href="/wiki/Laminin" title="Laminin">laminin</a> and other <a href="/wiki/Scleroprotein" class="mw-redirect" title="Scleroprotein">scleroproteins</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Collagen_disease" title="Collagen disease">Collagen disease</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/COL1" class="mw-redirect" title="COL1">COL1</a>:</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Osteogenesis_imperfecta" title="Osteogenesis imperfecta">Osteogenesis imperfecta</a><span class="nowrap"> </span><span style="font-size:85%;">(types I–IV)</span></li> <li><a href="/wiki/Ehlers%E2%80%93Danlos_syndrome" title="Ehlers–Danlos syndrome">Ehlers–Danlos syndrome</a><span class="nowrap"> </span><span style="font-size:85%;">(types 1, 2, & 7)</span></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Type-II_collagen" class="mw-redirect" title="Type-II collagen">COL2</a>:</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Hypochondrogenesis" title="Hypochondrogenesis">Hypochondrogenesis</a></li> <li><a href="/wiki/Achondrogenesis_type_2" title="Achondrogenesis type 2">Achondrogenesis<span class="nowrap"> </span><span style="font-size:85%;">(type 2)</span></a></li> <li><a href="/wiki/Stickler_syndrome" title="Stickler syndrome">Stickler syndrome</a></li> <li><a href="/wiki/Marshall_syndrome" title="Marshall syndrome">Marshall syndrome</a></li> <li><a href="/wiki/Spondyloepiphyseal_dysplasia_congenita" title="Spondyloepiphyseal dysplasia congenita">Spondyloepiphyseal dysplasia congenita</a></li> <li><a href="/wiki/Spondyloepimetaphyseal_dysplasia,_Strudwick_type" title="Spondyloepimetaphyseal dysplasia, Strudwick type">Spondyloepimetaphyseal dysplasia,<span class="nowrap"> </span><span style="font-size:85%;">(Strudwick type)</span></a></li> <li><a href="/wiki/Kniest_dysplasia" title="Kniest dysplasia">Kniest dysplasia</a> (<a href="/wiki/Type_II_collagenopathy" class="mw-redirect" title="Type II collagenopathy">Type II collagenopathy</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/COL3" class="mw-redirect" title="COL3">COL3</a>:</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Ehlers%E2%80%93Danlos_syndrome" title="Ehlers–Danlos syndrome">Ehlers–Danlos syndrome</a><span class="nowrap"> </span><span style="font-size:85%;">(types 3 & 4)</span></li> <li><a href="/wiki/Sack%E2%80%93Barabas_syndrome" title="Sack–Barabas syndrome">Sack–Barabas syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/COL4" class="mw-redirect" title="COL4">COL4</a>:</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Alport_syndrome" title="Alport syndrome">Alport syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/COL5" class="mw-redirect" title="COL5">COL5</a>:</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Ehlers%E2%80%93Danlos_syndrome" title="Ehlers–Danlos syndrome">Ehlers–Danlos syndrome</a><span class="nowrap"> </span><span style="font-size:85%;">(types 1 & 2)</span></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Collagen_VI" title="Collagen VI">COL6</a>:</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Bethlem_myopathy" title="Bethlem myopathy">Bethlem myopathy</a><span class="nowrap"> </span><span style="font-size:85%;">(type 1)</span></li> <li><a href="/wiki/Ullrich_congenital_muscular_dystrophy" title="Ullrich congenital muscular dystrophy">Ullrich congenital muscular dystrophy</a><span class="nowrap"> </span><span style="font-size:85%;">(type 1)</span></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/COL7" class="mw-redirect" title="COL7">COL7</a>:</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Epidermolysis_bullosa_dystrophica" title="Epidermolysis bullosa dystrophica">Epidermolysis bullosa dystrophica</a></li> <li><a href="/wiki/Recessive_dystrophic_epidermolysis_bullosa" class="mw-redirect" title="Recessive dystrophic epidermolysis bullosa">Recessive dystrophic epidermolysis bullosa</a></li> <li><a href="/wiki/Bart_syndrome" title="Bart syndrome">Bart syndrome</a></li> <li><a href="/wiki/Transient_bullous_dermolysis_of_the_newborn" title="Transient bullous dermolysis of the newborn">Transient bullous dermolysis of the newborn</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">COL8:</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Fuchs%27_dystrophy" title="Fuchs' dystrophy">Fuchs' dystrophy</a><span class="nowrap"> </span><span style="font-size:85%;">(type 1)</span></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">COL9:</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Multiple_epiphyseal_dysplasia" title="Multiple epiphyseal dysplasia">Multiple epiphyseal dysplasia</a><span class="nowrap"> </span><span style="font-size:85%;">(types 2, 3, & 6)</span></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">COL10:</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Schmid_metaphyseal_chondrodysplasia" class="mw-redirect" title="Schmid metaphyseal chondrodysplasia">Schmid metaphyseal chondrodysplasia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">COL11:</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Weissenbacher%E2%80%93Zweym%C3%BCller_syndrome" title="Weissenbacher–Zweymüller syndrome">Weissenbacher–Zweymüller syndrome</a></li> <li><a href="/wiki/Otospondylomegaepiphyseal_dysplasia" title="Otospondylomegaepiphyseal dysplasia">Otospondylomegaepiphyseal dysplasia</a><span class="nowrap"> </span>(<a href="/wiki/Type_XI_collagenopathy" class="mw-redirect" title="Type XI collagenopathy">Type XI collagenopathy</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">COL12:</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Bethlem_myopathy" title="Bethlem myopathy">Bethlem myopathy</a><span class="nowrap"> </span><span style="font-size:85%;">(type 2)</span></li> <li><a href="/wiki/Ullrich_congenital_muscular_dystrophy" title="Ullrich congenital muscular dystrophy">Ullrich congenital muscular dystrophy</a><span class="nowrap"> </span><span style="font-size:85%;">(type 2)</span></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">COL17:</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Bullous_pemphigoid" title="Bullous pemphigoid">Bullous pemphigoid</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">COL18:</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Knobloch_syndrome" title="Knobloch syndrome">Knobloch syndrome</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Laminin" title="Laminin">Laminin</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Junctional_epidermolysis_bullosa_(medicine)" title="Junctional epidermolysis bullosa (medicine)">Junctional epidermolysis bullosa</a></li> <li><a href="/wiki/Laryngoonychocutaneous_syndrome" class="mw-redirect" title="Laryngoonychocutaneous syndrome">Laryngoonychocutaneous syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Congenital_stromal_corneal_dystrophy" title="Congenital stromal corneal dystrophy">Congenital stromal corneal dystrophy</a></li> <li><a href="/wiki/Raine_syndrome" title="Raine syndrome">Raine syndrome</a></li> <li><a href="/wiki/Urbach%E2%80%93Wiethe_disease" title="Urbach–Wiethe disease">Urbach–Wiethe disease</a></li> <li><i><a href="/wiki/TECTA" title="TECTA">TECTA</a></i> <ul><li><a href="/wiki/Genes_related_to_nonsyndromic_deafness" class="mw-redirect" title="Genes related to nonsyndromic deafness">DFNA8/12, DFNB21</a></li></ul></li></ul> </div></td></tr><tr><td class="navbox-abovebelow" colspan="2"><div><i>see also <a href="/wiki/Template:Fibrous_proteins" title="Template:Fibrous proteins">fibrous proteins</a></i></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link 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