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class="vector-unpinned-container"> </div> </div> </div> </nav> <h1 id="firstHeading" class="firstHeading mw-first-heading"><span class="mw-page-title-main">Nephrogenic diabetes insipidus</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. 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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/Nefrogenik_%C5%9F%C9%99k%C9%99rsiz_diabet" title="Nefrogenik şəkərsiz diabet – Azerbaijani" lang="az" hreflang="az" data-title="Nefrogenik şəkərsiz diabet" 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/Nefrogeni_diabetes_insipidus" title="Nefrogeni diabetes insipidus – Bosnian" lang="bs" hreflang="bs" data-title="Nefrogeni diabetes insipidus" data-language-autonym="Bosanski" data-language-local-name="Bosnian" class="interlanguage-link-target"><span>Bosanski</span></a></li><li class="interlanguage-link interwiki-de mw-list-item"><a href="https://de.wikipedia.org/wiki/Diabetes_insipidus_renalis" title="Diabetes insipidus renalis – German" lang="de" hreflang="de" data-title="Diabetes insipidus renalis" data-language-autonym="Deutsch" data-language-local-name="German" class="interlanguage-link-target"><span>Deutsch</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/Diabetes_ins%C3%ADpida_nefrog%C3%A9nica" title="Diabetes insípida nefrogénica – Spanish" lang="es" hreflang="es" data-title="Diabetes insípida nefrogénica" data-language-autonym="Español" data-language-local-name="Spanish" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-it mw-list-item"><a href="https://it.wikipedia.org/wiki/Diabete_insipido_nefrogeno" title="Diabete insipido nefrogeno – Italian" lang="it" hreflang="it" data-title="Diabete insipido nefrogeno" data-language-autonym="Italiano" data-language-local-name="Italian" class="interlanguage-link-target"><span>Italiano</span></a></li><li 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Unsourced material may be challenged and removed.<br /><small><span class="plainlinks"><i>Find sources:</i> <a rel="nofollow" class="external text" href="https://www.google.com/search?as_eq=wikipedia&q=%22Nephrogenic+diabetes+insipidus%22">"Nephrogenic diabetes insipidus"</a> – <a rel="nofollow" class="external text" href="https://www.google.com/search?tbm=nws&q=%22Nephrogenic+diabetes+insipidus%22+-wikipedia&tbs=ar:1">news</a> <b>·</b> <a rel="nofollow" class="external text" href="https://www.google.com/search?&q=%22Nephrogenic+diabetes+insipidus%22&tbs=bkt:s&tbm=bks">newspapers</a> <b>·</b> <a rel="nofollow" class="external text" href="https://www.google.com/search?tbs=bks:1&q=%22Nephrogenic+diabetes+insipidus%22+-wikipedia">books</a> <b>·</b> <a rel="nofollow" class="external text" href="https://scholar.google.com/scholar?q=%22Nephrogenic+diabetes+insipidus%22">scholar</a> <b>·</b> <a rel="nofollow" class="external text" href="https://www.jstor.org/action/doBasicSearch?Query=%22Nephrogenic+diabetes+insipidus%22&acc=on&wc=on">JSTOR</a></span></small></span> <span class="date-container"><i>(<span class="date">October 2024</span>)</i></span><span class="hide-when-compact"><i> (<small><a href="/wiki/Help:Maintenance_template_removal" title="Help:Maintenance template removal">Learn how and when to remove this message</a></small>)</i></span></div></td></tr></tbody></table> <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">Nephrogenic diabetes insipidus</th></tr><tr><th scope="row" class="infobox-label">Other names</th><td class="infobox-data">arginine vasopressin resistance; AVP-R; renal diabetes insipidus</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/Nephrology" title="Nephrology">Nephrology</a>, <a href="/wiki/Endocrinology" title="Endocrinology">endocrinology</a>, <a href="/wiki/Urology" title="Urology">urology</a> <span class="penicon autoconfirmed-show"><span class="mw-valign-text-top" typeof="mw:File/Frameless"><a href="https://www.wikidata.org/wiki/Q2892779?uselang=en#P1995" title="Edit this on Wikidata"><img alt="Edit this on Wikidata" src="//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/10px-OOjs_UI_icon_edit-ltr-progressive.svg.png" decoding="async" width="10" height="10" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/15px-OOjs_UI_icon_edit-ltr-progressive.svg.png 1.5x, //upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/20px-OOjs_UI_icon_edit-ltr-progressive.svg.png 2x" data-file-width="20" data-file-height="20" /></a></span></span></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Signs_and_symptoms" title="Signs and symptoms">Symptoms</a></th><td class="infobox-data"><a href="/wiki/Polyuria" title="Polyuria">Polyuria</a>, <a href="/wiki/Nocturia" title="Nocturia">nocturia</a>, and <a href="/wiki/Polydipsia" title="Polydipsia">polydipsia</a>.</td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Complication_(medicine)" title="Complication (medicine)">Complications</a></th><td class="infobox-data"><a href="/wiki/Dehydration" title="Dehydration">Dehydration</a>, <a href="/wiki/Seizure" title="Seizure">seizures</a></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_diagnosis" title="Medical diagnosis">Diagnostic method</a></th><td class="infobox-data"><a href="/wiki/Urine_test" title="Urine test">Urine tests</a>, <a href="/wiki/Blood_test" title="Blood test">blood tests</a>, <a href="/wiki/Fluid_deprivation_test" title="Fluid deprivation test">fluid deprivation test</a></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Differential_diagnosis" title="Differential diagnosis">Differential diagnosis</a></th><td class="infobox-data">AVP-D (<a href="/wiki/Central_diabetes_insipidus" title="Central diabetes insipidus">central</a>), <a href="/wiki/Diabetes_mellitus" class="mw-redirect" title="Diabetes mellitus">Diabetes mellitus</a></td></tr><tr><th scope="row" class="infobox-label">Treatment</th><td class="infobox-data">Drinking sufficient fluids</td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medication" title="Medication">Medication</a></th><td class="infobox-data"><a href="/wiki/Thiazide" title="Thiazide">thiazides</a>, <a href="/wiki/Aspirin" title="Aspirin">aspirin</a></td></tr><tr><th scope="row" class="infobox-label">Frequency</th><td class="infobox-data">3 per 100,000 per year</td></tr></tbody></table> <p><b>Nephrogenic diabetes insipidus</b>, recently renamed <b>arginine vasopressin resistance</b> (AVP-R) and previously known as <b>renal diabetes insipidus</b>, is a form of <a href="/wiki/Diabetes_insipidus" title="Diabetes insipidus">diabetes insipidus</a> primarily due to pathology of the <a href="/wiki/Kidney" title="Kidney">kidney</a>. This is in contrast to central or <a href="/wiki/Central_diabetes_insipidus" title="Central diabetes insipidus">neurogenic diabetes insipidus</a>, which is caused by insufficient levels of <a href="/wiki/Vasopressin" title="Vasopressin">vasopressin</a> (also called antidiuretic hormone, ADH). Nephrogenic diabetes insipidus is caused by an improper response of the kidney to vasopressin, leading to a decrease in the ability of the kidney to concentrate the <a href="/wiki/Urine" title="Urine">urine</a> by <a href="/wiki/Reabsorption" title="Reabsorption">removing free water</a>. </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Signs_and_symptoms">Signs and symptoms</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nephrogenic_diabetes_insipidus&action=edit&section=1" title="Edit section: Signs and symptoms"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The clinical manifestation is similar to neurogenic diabetes insipidus, presenting with <a href="/wiki/Polydipsia" title="Polydipsia">polydipsia</a> (excessive thirst) and <a href="/wiki/Polyuria" title="Polyuria">polyuria</a> (excretion of a large amount of dilute urine). Dehydration is common, and incontinence can occur secondary to chronic bladder distension.<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> On investigation, there will be an increased plasma osmolarity and decreased urine osmolarity. As pituitary function is normal, antidiuretic hormone levels are likely to be abnormal or raised. Polyuria will continue as long as the patient is able to drink. If the patient is unable to drink and is still unable to concentrate the urine, then <a href="/wiki/Hypernatremia" title="Hypernatremia">hypernatremia</a> will ensue with its neurologic symptoms. </p> <div class="mw-heading mw-heading2"><h2 id="Causes">Causes</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nephrogenic_diabetes_insipidus&action=edit&section=2" title="Edit section: Causes"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="mw-heading mw-heading3"><h3 id="Acquired">Acquired</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nephrogenic_diabetes_insipidus&action=edit&section=3" title="Edit section: Acquired"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Nephrogenic diabetes insipidus is most common in its acquired forms, meaning that the defect was not present at birth. These acquired forms have numerous potential causes. The most obvious cause is a kidney or systemic disorder, including <a href="/wiki/Amyloidosis" title="Amyloidosis">amyloidosis</a>,<sup id="cite_ref-4typneph_2-0" class="reference"><a href="#cite_note-4typneph-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> <a href="/wiki/Polycystic_kidney_disease" title="Polycystic kidney disease">polycystic kidney disease</a>,<sup id="cite_ref-NIHpub_3-0" class="reference"><a href="#cite_note-NIHpub-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> electrolyte imbalance,<sup id="cite_ref-pmid8621781_4-0" class="reference"><a href="#cite_note-pmid8621781-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-pmid185584_5-0" class="reference"><a href="#cite_note-pmid185584-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> or some other kidney defect.<sup id="cite_ref-4typneph_2-1" class="reference"><a href="#cite_note-4typneph-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p><p>The major causes of acquired nephrogenic diabetes insipidus that produce clinical symptoms (e.g., polyuria) in the adult are <a href="/wiki/Lithium_(medication)" title="Lithium (medication)">lithium</a> toxicity and <a href="/wiki/Hypercalcemia" class="mw-redirect" title="Hypercalcemia">high blood calcium</a>. About 80% of lithium ingested appears to affect the <a href="/wiki/Proximal_tubule" title="Proximal tubule">proximal tubules</a> by entering the collecting tubule cells through sodium channels, accumulating and interfering with the normal response to antidiuretic hormone in a mechanism that is not yet fully understood.<sup id="cite_ref-Davis_Desmond_Berk_pp._897–903_6-0" class="reference"><a href="#cite_note-Davis_Desmond_Berk_pp._897–903-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> High blood calcium causes natriuresis (increased sodium loss in the urine) and water diuresis, in part by its effect through the <a href="/wiki/Calcium-sensing_receptor" title="Calcium-sensing receptor">calcium-sensing receptor</a>. </p> <div class="mw-heading mw-heading3"><h3 id="Osmotic">Osmotic</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nephrogenic_diabetes_insipidus&action=edit&section=4" title="Edit section: Osmotic"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Other causes of acquired nephrogenic diabetes insipidus include <a href="/wiki/Hypokalemia" title="Hypokalemia">hypokalemia</a> (low blood potassium), post-obstructive polyuria, <a href="/wiki/Sickle_cell_disease" title="Sickle cell disease">sickle cell disease</a> or trait, amyloidosis, <a href="/wiki/Sj%C3%B6gren_syndrome" class="mw-redirect" title="Sjögren syndrome">Sjögren syndrome</a>, renal cystic disease, <a href="/wiki/Bartter_syndrome" title="Bartter syndrome">Bartter syndrome</a>, and various medications (<a href="/wiki/Amphotericin_B" title="Amphotericin B">amphotericin B</a>, <a href="/wiki/Orlistat" title="Orlistat">orlistat</a>, <a href="/wiki/Ifosfamide" title="Ifosfamide">ifosfamide</a>, <a href="/wiki/Ofloxacin" title="Ofloxacin">ofloxacin</a>, <a href="/wiki/Cidofovir" title="Cidofovir">cidofovir</a>, <a href="/wiki/Vasopressin_receptor_antagonist#Vaptans" title="Vasopressin receptor antagonist">vaptans</a>). </p><p>In addition to kidney and systemic disorders, nephrogenic diabetes insipidus can present itself as a side effect of some <a href="/wiki/Medication" title="Medication">medications.</a> The most common and well known of these medications is lithium,<sup id="cite_ref-pmid2989335_7-0" class="reference"><a href="#cite_note-pmid2989335-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> although there are many other medications that cause this effect with lesser frequency.<sup id="cite_ref-4typneph_2-2" class="reference"><a href="#cite_note-4typneph-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Hereditary">Hereditary</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nephrogenic_diabetes_insipidus&action=edit&section=5" title="Edit section: Hereditary"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>This form of diabetes insipidus can also be hereditary due to defects in the following genes: </p> <table class="wikitable"> <tbody><tr> <th>Type </th> <th><a href="/wiki/OMIM" class="mw-redirect" title="OMIM">OMIM</a> </th> <th>Gene </th> <th>Locus </th></tr> <tr> <td>NDI1 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/304800">304800</a> </td> <td><i><a href="/wiki/AVPR2" class="mw-redirect" title="AVPR2">AVPR2</a></i> </td> <td>Usually, the hereditary form of nephrogenic diabetes insipidus is the result of an X-linked genetic defect which causes the <a href="/wiki/Vasopressin_receptor" title="Vasopressin receptor">vasopressin receptor</a> (also called the V2 receptor) in the kidney to not function correctly.<sup id="cite_ref-4typneph_2-3" class="reference"><a href="#cite_note-4typneph-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-8" class="reference"><a href="#cite_note-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> </td></tr> <tr> <td>NDI2 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/125800">125800</a> </td> <td><i><a href="/wiki/AQP2" class="mw-redirect" title="AQP2">AQP2</a></i> </td> <td>In more rare cases, a mutation in the "<a href="/wiki/Aquaporin_2" class="mw-redirect" title="Aquaporin 2">aquaporin 2</a>" gene impedes the normal functionality of the kidney water channel, which results in the kidney being unable to absorb water. This mutation is often inherited in an autosomal recessive manner although dominant mutations are reported from time to time <sup id="cite_ref-4typneph_2-4" class="reference"><a href="#cite_note-4typneph-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><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> </td></tr></tbody></table> <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=Nephrogenic_diabetes_insipidus&action=edit&section=6" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Differential diagnosis includes nephrogenic diabetes insipidus, neurogenic/central diabetes insipidus and psychogenic polydipsia. They may be differentiated by using the water deprivation test. Recently, lab assays for antidiuretic hormone are available and can aid in diagnosis. If the patient is able to rehydrate properly, sodium concentration should be nearer to the maximum of the normal range. This, however, is not a diagnostic finding, as it depends on patient hydration.<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. (April 2021)">citation needed</span></a></i>]</sup> </p><p><a href="/wiki/Desmopressin" title="Desmopressin">Desmopressin</a> can also be used; if the patient is able to concentrate urine following administration of desmopressin, then the cause of the diabetes insipidus is neurogenic diabetes insipidus; if no response occurs to desmopressin, then the cause is likely to be nephrogenic. </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=Nephrogenic_diabetes_insipidus&action=edit&section=7" title="Edit section: Treatment"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Persons with nephrogenic diabetes insipidus must consume enough fluids to equal the amount of urine produced. Any underlying cause such as high blood calcium must be corrected to treat nephrogenic diabetes insipidus. The first line of treatment is <a href="/wiki/Hydrochlorothiazide" title="Hydrochlorothiazide">hydrochlorothiazide</a> and <a href="/wiki/Amiloride" title="Amiloride">amiloride</a>.<sup id="cite_ref-pmid10332005_10-0" class="reference"><a href="#cite_note-pmid10332005-10"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> Patients may also consider a low-salt and low-protein diet. </p><p>Thiazide diuretics cause a mild decrease in extracellular fluid volume through natriuresis and diuresis which in turn increases the <a href="/wiki/Proximal_convoluted_tubule" class="mw-redirect" title="Proximal convoluted tubule">proximal</a> absorption of sodium and water, lowering urine output.<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> </p><p>High serum osmolarity stimulates polydipsia in an attempt to dilute the serum back to normal and provide free water for excreting the excess serum solutes. However, since the patient is unable to concentrate urine to excrete the excess solutes, the resulting urine fails to decrease serum osmolarity and the cycle repeats itself, hence polyuria. </p> <div class="mw-heading mw-heading2"><h2 id="Etymology">Etymology</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nephrogenic_diabetes_insipidus&action=edit&section=8" title="Edit section: Etymology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The name of the disease comes from: </p> <ul><li><i>diabetes</i>: from <a href="/wiki/Latin_language" class="mw-redirect" title="Latin language">Latin</a>: <i lang="la">diabetes</i>, from <a href="/wiki/Ancient_Greek_language" class="mw-redirect" title="Ancient Greek language">Ancient Greek</a>: <span lang="grc">διαβήτης</span> <i>diabḗtēs</i> "a passer-through; siphon", from Greek διαβαίνειν <i>diabaínein</i> "to pass through", from δια- <i>dia-</i> "through" + βαίνειν <i>baínein</i> "to go".</li> <li><i>insipidus</i>: from <a href="/wiki/Late_Latin" title="Late Latin">Late Latin</a>: <i>insipidus</i> "tasteless," from Latin <i>in-</i> "not" + <i>sapidus</i> "tasty", from <i>sapere</i> "to taste".</li></ul> <p>This is because patients experience polyuria (an excretion of over 2.5 liters of urine per day), and the urine does not have an elevated <a href="/wiki/Glucose" title="Glucose">glucose</a> concentration, as opposed to <a href="/wiki/Diabetes_mellitus" class="mw-redirect" title="Diabetes mellitus">diabetes mellitus</a>. The two diseases were named (in ancient times) for the fact that one features polyuria in which the urine tastes sweet, whereas the other features polyuria in which the urine tastes unremarkable.<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. (April 2021)">citation needed</span></a></i>]</sup> </p><p>Although they share part of their names, diabetes mellitus and diabetes insipidus are two separate conditions. Both cause excessive urination (hence the similarity in name), but whereas diabetes insipidus is a problem with the production of <a href="/wiki/Antidiuretic_hormone" class="mw-redirect" title="Antidiuretic hormone">antidiuretic hormone</a> (neurogenic diabetes insipidus) or the kidneys' response to antidiuretic hormone (nephrogenic diabetes insipidus), diabetes mellitus causes polyuria via <a href="/wiki/Osmotic_diuresis" class="mw-redirect" title="Osmotic diuresis">osmotic diuresis</a>, due to the <a href="/wiki/Hyperglycemia" title="Hyperglycemia">high blood sugar</a> <a href="/wiki/Glycosuria" title="Glycosuria">leaking into the urine</a>, taking excess water along with it.<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. (September 2020)">citation needed</span></a></i>]</sup> </p> <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=Nephrogenic_diabetes_insipidus&action=edit&section=9" 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 class="mw-cite-backlink"><b><a href="#cite_ref-1">^</a></b></span> <span class="reference-text"><style data-mw-deduplicate="TemplateStyles:r1238218222">.mw-parser-output cite.citation{font-style:inherit;word-wrap:break-word}.mw-parser-output .citation q{quotes:"\"""\"""'""'"}.mw-parser-output .citation:target{background-color:rgba(0,127,255,0.133)}.mw-parser-output .id-lock-free.id-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/6/65/Lock-green.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-limited.id-lock-limited a,.mw-parser-output .id-lock-registration.id-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/d/d6/Lock-gray-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-subscription.id-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/a/aa/Lock-red-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .cs1-ws-icon a{background:url("//upload.wikimedia.org/wikipedia/commons/4/4c/Wikisource-logo.svg")right 0.1em center/12px no-repeat}body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-free a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-limited a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-registration a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-subscription a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .cs1-ws-icon a{background-size:contain;padding:0 1em 0 0}.mw-parser-output .cs1-code{color:inherit;background:inherit;border:none;padding:inherit}.mw-parser-output .cs1-hidden-error{display:none;color:var(--color-error,#d33)}.mw-parser-output .cs1-visible-error{color:var(--color-error,#d33)}.mw-parser-output .cs1-maint{display:none;color:#085;margin-left:0.3em}.mw-parser-output .cs1-kern-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right{padding-right:0.2em}.mw-parser-output .citation .mw-selflink{font-weight:inherit}@media screen{.mw-parser-output .cs1-format{font-size:95%}html.skin-theme-clientpref-night .mw-parser-output .cs1-maint{color:#18911f}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .cs1-maint{color:#18911f}}</style><cite class="citation web cs1"><a rel="nofollow" class="external text" href="http://www.patient.co.uk/showdoc/40001780/">"Diabetes Insipidus. 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304800</a></span> </li> <li id="cite_note-9"><span class="mw-cite-backlink"><b><a href="#cite_ref-9">^</a></b></span> <span class="reference-text"><a href="/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">Online Mendelian Inheritance in Man</a> (OMIM): <a rel="nofollow" class="external text" href="https://omim.org/entry/125800">Diabetes Insipidus, Nephrogenic, Autosomal - 125800</a></span> </li> <li id="cite_note-pmid10332005-10"><span class="mw-cite-backlink"><b><a href="#cite_ref-pmid10332005_10-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFKirchlechnerKollerSeidlWaldhauser1999" class="citation journal cs1">Kirchlechner V, Koller DY, Seidl R, Waldhauser F (June 1999). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1717946">"Treatment of nephrogenic diabetes insipidus with hydrochlorothiazide and amiloride"</a>. <i>Archives of Disease in Childhood</i>. <b>80</b> (6): <span class="nowrap">548–</span>52. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1136%2Fadc.80.6.548">10.1136/adc.80.6.548</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1717946">1717946</a></span>. <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/10332005">10332005</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Archives+of+Disease+in+Childhood&rft.atitle=Treatment+of+nephrogenic+diabetes+insipidus+with+hydrochlorothiazide+and+amiloride&rft.volume=80&rft.issue=6&rft.pages=%3Cspan+class%3D%22nowrap%22%3E548-%3C%2Fspan%3E52&rft.date=1999-06&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1717946%23id-name%3DPMC&rft_id=info%3Apmid%2F10332005&rft_id=info%3Adoi%2F10.1136%2Fadc.80.6.548&rft.aulast=Kirchlechner&rft.aufirst=V&rft.au=Koller%2C+DY&rft.au=Seidl%2C+R&rft.au=Waldhauser%2C+F&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1717946&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANephrogenic+diabetes+insipidus" class="Z3988"></span></span> </li> <li id="cite_note-11"><span class="mw-cite-backlink"><b><a href="#cite_ref-11">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFBraterH_Ellison2022" class="citation web cs1">Brater, Craig; H Ellison, David (November 30, 2022). <span class="id-lock-subscription" title="Paid subscription required"><a rel="nofollow" class="external text" href="https://www.uptodate.com/contents/mechanism-of-action-of-diuretics#H4">"Mechanism of action of diuretics"</a></span>. <i><a href="/wiki/UpToDate" title="UpToDate">UpToDate</a></i><span class="reference-accessdate">. Retrieved <span class="nowrap">August 19,</span> 2024</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=UpToDate&rft.atitle=Mechanism+of+action+of+diuretics&rft.date=2022-11-30&rft.aulast=Brater&rft.aufirst=Craig&rft.au=H+Ellison%2C+David&rft_id=https%3A%2F%2Fwww.uptodate.com%2Fcontents%2Fmechanism-of-action-of-diuretics%23H4&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANephrogenic+diabetes+insipidus" 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 href="/w/index.php?title=Nephrogenic_diabetes_insipidus&action=edit&section=10" title="Edit section: External links"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="navbox-styles"><style data-mw-deduplicate="TemplateStyles:r1236075235">.mw-parser-output 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dt:last-child::after,.mw-parser-output .hlist li li:last-child::after{content:")";font-weight:normal}.mw-parser-output .hlist ol{counter-reset:listitem}.mw-parser-output .hlist ol>li{counter-increment:listitem}.mw-parser-output .hlist ol>li::before{content:" "counter(listitem)"\a0 "}.mw-parser-output .hlist dd ol>li:first-child::before,.mw-parser-output .hlist dt ol>li:first-child::before,.mw-parser-output .hlist li ol>li:first-child::before{content:" ("counter(listitem)"\a0 "}</style><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"></div><div role="navigation" class="navbox" aria-label="Navbox32" style="width:100%; margin:0.5em 0 0.5em 0;;padding:3px"><table class="nowraplinks navbox-inner" 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/Q2892779" class="extiw" title="d:Q2892779">D</a></div><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/ICD-11" title="ICD-11">11</a></b>: <a rel="nofollow" class="external text" href="https://icd.who.int/browse/latest-release/mms/en#1417669099">GB90.4A</a></li><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/ICD-10" title="ICD-10">10</a></b>: <a rel="nofollow" class="external text" href="https://icd.who.int/browse10/2019/en#/N25.1">N25.1</a></li><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/List_of_ICD-9_codes" title="List of ICD-9 codes">9-CM</a></b>: <a rel="nofollow" class="external text" href="http://www.icd9data.com/getICD9Code.ashx?icd9=588.1">588.1</a></li><li><b><a href="/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">OMIM</a></b>: <a rel="nofollow" class="external text" href="https://omim.org/entry/304800">304800</a> <a rel="nofollow" class="external text" href="https://omim.org/entry/125800">125800</a></li><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=D018500">D018500</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/ddb3637.htm">3637</a></li><li><b><a href="/wiki/SNOMED_CT" title="SNOMED CT">SNOMED CT</a></b>: <a rel="nofollow" class="external text" href="http://snomed.info/id/111395007">111395007</a></li></ul></div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">External resources</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/MedlinePlus" title="MedlinePlus">MedlinePlus</a></b>: <a rel="nofollow" class="external text" href="https://www.nlm.nih.gov/medlineplus/ency/article/000511.htm">000511</a></li><li><b><a href="/wiki/GeneReviews" title="GeneReviews">GeneReviews</a></b>: <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK1177/">Nephrogenic Diabetes Insipidus</a></li><li><b><a href="/wiki/National_Organization_for_Rare_Disorders" title="National Organization for Rare Disorders">NORD</a></b>: <a rel="nofollow" class="external text" href="https://rarediseases.org/rare-diseases/nephrogenic-diabetes-insipidus">nephrogenic-diabetes-insipidus</a></li><li><b><a href="/wiki/GARD" class="mw-redirect" title="GARD">GARD</a></b>: <a rel="nofollow" class="external text" href="https://rarediseases.info.nih.gov/diseases/7178/Nephrogenic-diabetes-insipidus">Nephrogenic diabetes insipidus</a></li><li><b><a href="/wiki/Orphanet" title="Orphanet">Orphanet</a></b>: <a rel="nofollow" class="external text" href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223">223</a></li><li><b>Scholia</b>: <a class="external text" href="https://tools.wmflabs.org/scholia/topic/Q2892779">Q2892779</a></li></ul></div></div></td></tr></tbody></table></div> <div 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href="/wiki/Template_talk:Kidney_disease" title="Template talk:Kidney disease"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Kidney_disease" title="Special:EditPage/Template:Kidney disease"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Kidney_disease168" style="font-size:114%;margin:0 4em"><a href="/wiki/Kidney_disease" title="Kidney disease">Kidney disease</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Glomerulopathy" title="Glomerulopathy">Glomerular disease</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>See <a href="/wiki/Template:Glomerular_disease" title="Template:Glomerular disease">Template:Glomerular disease</a></i></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Tubulopathy" title="Tubulopathy">Tubules</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/Renal_tubular_acidosis" title="Renal tubular acidosis">Renal tubular acidosis</a> <ul><li><a href="/wiki/Proximal_renal_tubular_acidosis" title="Proximal renal tubular acidosis">proximal</a></li> <li><a href="/wiki/Distal_renal_tubular_acidosis" title="Distal renal tubular acidosis">distal</a></li></ul></li> <li><a href="/wiki/Acute_tubular_necrosis" title="Acute tubular necrosis">Acute tubular necrosis</a></li> <li>Genetic <ul><li><a href="/wiki/Fanconi_syndrome" title="Fanconi syndrome">Fanconi syndrome</a></li> <li><a href="/wiki/Bartter_syndrome" title="Bartter syndrome">Bartter syndrome</a></li> <li><a href="/wiki/Gitelman_syndrome" title="Gitelman syndrome">Gitelman syndrome</a></li> <li><a href="/wiki/Liddle%27s_syndrome" title="Liddle's syndrome">Liddle's syndrome</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Medullary_interstitium" class="mw-redirect" title="Medullary interstitium">Interstitium</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/Interstitial_nephritis" title="Interstitial nephritis">Interstitial nephritis</a> <ul><li><a href="/wiki/Pyelonephritis" title="Pyelonephritis">Pyelonephritis</a></li> <li><a href="/wiki/Balkan_endemic_nephropathy" title="Balkan endemic nephropathy">Balkan endemic nephropathy</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Vascular_disease" title="Vascular disease">Vascular</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/Renal_artery_stenosis" title="Renal artery stenosis">Renal artery stenosis</a></li> <li><a href="/wiki/Renal_ischemia" class="mw-redirect" title="Renal ischemia">Renal ischemia</a></li> <li><a href="/wiki/Hypertensive_nephropathy" class="mw-redirect" title="Hypertensive nephropathy">Hypertensive nephropathy</a></li> <li><a href="/wiki/Renovascular_hypertension" title="Renovascular hypertension">Renovascular hypertension</a></li> <li><a href="/wiki/Renal_cortical_necrosis" title="Renal cortical necrosis">Renal cortical necrosis</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">General syndromes</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/Nephritis" title="Nephritis">Nephritis</a></li> <li><a href="/wiki/Nephrosis" title="Nephrosis">Nephrosis</a></li> <li><a href="/wiki/Renal_failure" class="mw-redirect" title="Renal failure">Renal failure</a> <ul><li><a href="/wiki/Acute_kidney_injury" title="Acute kidney injury">Acute renal failure</a></li> <li><a href="/wiki/Chronic_kidney_disease" title="Chronic kidney disease">Chronic kidney disease</a></li> <li><a href="/wiki/Uremia" title="Uremia">Uremia</a></li></ul></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" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Analgesic_nephropathy" title="Analgesic nephropathy">Analgesic nephropathy</a></li> <li><a href="/wiki/Renal_osteodystrophy" title="Renal osteodystrophy">Renal osteodystrophy</a></li> <li><a href="/wiki/Nephroptosis" title="Nephroptosis">Nephroptosis</a></li> <li><a href="/wiki/Abderhalden%E2%80%93Kaufmann%E2%80%93Lignac_syndrome" class="mw-redirect" title="Abderhalden–Kaufmann–Lignac syndrome">Abderhalden–Kaufmann–Lignac syndrome</a></li> <li><a href="/wiki/Diabetes_insipidus" title="Diabetes insipidus">Diabetes insipidus</a> <ul><li><a class="mw-selflink selflink">Nephrogenic</a></li></ul></li> <li><a href="/wiki/Renal_papilla" class="mw-redirect" title="Renal papilla">Renal papilla</a> <ul><li><a href="/wiki/Renal_papillary_necrosis" title="Renal papillary necrosis">Renal papillary necrosis</a></li></ul></li> <li><a href="/wiki/Major_calyx" class="mw-redirect" title="Major calyx">Major calyx</a>/<a href="/wiki/Renal_pelvis" title="Renal pelvis">pelvis</a> <ul><li><a href="/wiki/Hydronephrosis" title="Hydronephrosis">Hydronephrosis</a></li> <li><a href="/wiki/Pyonephrosis" title="Pyonephrosis">Pyonephrosis</a></li> <li><a href="/wiki/Reflux_nephropathy" title="Reflux nephropathy">Reflux nephropathy</a></li></ul></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="X-linked_disorders34" 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:X-linked_disorders" title="Template:X-linked disorders"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:X-linked_disorders" title="Template talk:X-linked disorders"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:X-linked_disorders" title="Special:EditPage/Template:X-linked disorders"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="X-linked_disorders34" style="font-size:114%;margin:0 4em"><a href="/wiki/Sex_linkage" title="Sex linkage">X-linked</a> disorders</div></th></tr><tr><td colspan="2" class="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="col" class="navbox-title" colspan="2"><div id="X-linked_recessive363" style="font-size:114%;margin:0 4em"><a href="/wiki/X-linked_recessive_inheritance" title="X-linked recessive inheritance">X-linked recessive</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Immune_disorder" title="Immune disorder">Immune</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/Chronic_granulomatous_disease" title="Chronic granulomatous disease">Chronic granulomatous disease (CYBB)</a></li> <li><a href="/wiki/Wiskott%E2%80%93Aldrich_syndrome" title="Wiskott–Aldrich syndrome">Wiskott–Aldrich syndrome</a></li> <li><a href="/wiki/X-linked_severe_combined_immunodeficiency" title="X-linked severe combined immunodeficiency">X-linked severe combined immunodeficiency</a></li> <li><a href="/wiki/X-linked_agammaglobulinemia" title="X-linked agammaglobulinemia">X-linked agammaglobulinemia</a></li> <li><a href="/wiki/Hyper-IgM_syndrome_type_1" title="Hyper-IgM syndrome type 1">Hyper-IgM syndrome type 1</a></li> <li><a href="/wiki/IPEX_syndrome" title="IPEX syndrome">IPEX</a></li> <li><a href="/wiki/X-linked_lymphoproliferative_disease" title="X-linked lymphoproliferative disease">X-linked lymphoproliferative disease</a></li> <li><a href="/wiki/Properdin_deficiency" title="Properdin deficiency">Properdin deficiency</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Hematologic_disease" title="Hematologic disease">Hematologic</a></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/Haemophilia_A" title="Haemophilia A">Haemophilia A</a></li> <li><a href="/wiki/Haemophilia_B" title="Haemophilia B">Haemophilia B</a></li> <li><a href="/wiki/Sideroblastic_anemia" title="Sideroblastic anemia">X-linked sideroblastic anemia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Endocrine_disease" title="Endocrine disease">Endocrine</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/Androgen_insensitivity_syndrome" title="Androgen insensitivity syndrome">Androgen insensitivity syndrome</a>/<a href="/wiki/Spinal_and_bulbar_muscular_atrophy" title="Spinal and bulbar muscular atrophy">Spinal and bulbar muscular atrophy</a></li> <li><a href="/wiki/Kallmann_syndrome" title="Kallmann syndrome">KAL1 Kallmann 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></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Metabolic_disorder" title="Metabolic disorder">Metabolic</a></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/Congenital_disorders_of_amino_acid_metabolism" title="Congenital disorders of amino acid metabolism">Amino acid</a>:</i> <a href="/wiki/Ornithine_transcarbamylase_deficiency" title="Ornithine transcarbamylase deficiency">Ornithine transcarbamylase deficiency</a></li> <li><a href="/wiki/Oculocerebrorenal_syndrome" title="Oculocerebrorenal syndrome">Oculocerebrorenal syndrome</a></li></ul> <ul><li><i><a href="/wiki/Dyslipidemia" title="Dyslipidemia">Dyslipidemia</a>:</i> <a href="/wiki/Adrenoleukodystrophy" title="Adrenoleukodystrophy">Adrenoleukodystrophy</a></li></ul> <ul><li><i><a href="/wiki/Carbohydrate_metabolism" title="Carbohydrate metabolism">Carbohydrate metabolism</a>:</i> <a href="/wiki/Glucose-6-phosphate_dehydrogenase_deficiency" title="Glucose-6-phosphate dehydrogenase deficiency">Glucose-6-phosphate dehydrogenase deficiency</a></li> <li><a href="/wiki/Pyruvate_dehydrogenase_deficiency" title="Pyruvate dehydrogenase deficiency">Pyruvate dehydrogenase deficiency</a></li> <li><a href="/wiki/Danon_disease" title="Danon disease">Danon disease/glycogen storage disease Type IIb</a></li></ul> <ul><li><i><a href="/wiki/Lipid_storage_disorder" title="Lipid storage disorder">Lipid storage disorder</a></i>: <a href="/wiki/Fabry_disease" title="Fabry disease">Fabry disease</a></li></ul> <ul><li><i><a href="/wiki/Mucopolysaccharidosis" title="Mucopolysaccharidosis">Mucopolysaccharidosis</a>:</i> <a href="/wiki/Hunter_syndrome" title="Hunter syndrome">Hunter syndrome</a></li></ul> <ul><li><i><a href="/wiki/Inborn_errors_of_purine%E2%80%93pyrimidine_metabolism" title="Inborn errors of purine–pyrimidine metabolism">Purine–pyrimidine metabolism</a>:</i> <a href="/wiki/Lesch%E2%80%93Nyhan_syndrome" title="Lesch–Nyhan syndrome">Lesch–Nyhan syndrome</a></li></ul> <ul><li><i><a href="/wiki/Mineral_(nutrient)" title="Mineral (nutrient)">Mineral</a>:</i> <a href="/wiki/Menkes_disease" title="Menkes disease">Menkes disease</a>/<a href="/wiki/Occipital_horn_syndrome" title="Occipital horn syndrome">Occipital horn syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Nervous_system_disease" title="Nervous system disease">Nervous system</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><i><a href="/wiki/X-linked_intellectual_disability" title="X-linked intellectual disability">X-linked intellectual disability</a>:</i> <a href="/wiki/Coffin%E2%80%93Lowry_syndrome" title="Coffin–Lowry syndrome">Coffin–Lowry syndrome</a></li> <li><a href="/wiki/MASA_syndrome" title="MASA syndrome">MASA syndrome</a></li> <li><a href="/wiki/Alpha-thalassemia_mental_retardation_syndrome" class="mw-redirect" title="Alpha-thalassemia mental retardation syndrome">Alpha-thalassemia mental retardation syndrome</a></li> <li><a href="/wiki/PHF8" title="PHF8">PHF8</a></li></ul> <ul><li><i>Eye disorders:</i> <a href="/wiki/Color_blindness#Genetic_modes_of_inheritance" title="Color blindness">Color blindness (red and green, but not blue)</a></li> <li><a href="/wiki/Ocular_albinism" title="Ocular albinism">Ocular albinism</a> (<a href="/wiki/Ocular_albinism_type_1" title="Ocular albinism type 1">1</a>)</li> <li><a href="/wiki/Norrie_disease" title="Norrie disease">Norrie disease</a></li> <li><a href="/wiki/Choroideremia" title="Choroideremia">Choroideremia</a></li></ul> <ul><li><i>Other:</i> <a href="/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease" title="Charcot–Marie–Tooth disease">Charcot–Marie–Tooth disease (CMTX2-3)</a></li> <li><a href="/wiki/Pelizaeus%E2%80%93Merzbacher_disease" title="Pelizaeus–Merzbacher disease">Pelizaeus–Merzbacher disease</a></li> <li><a href="/wiki/X-linked_spinal_muscular_atrophy_type_2" title="X-linked spinal muscular atrophy type 2">SMAX2</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Skin_condition" title="Skin condition">Skin</a> and related tissue</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/Dyskeratosis_congenita" title="Dyskeratosis congenita">Dyskeratosis congenita</a></li> <li><a href="/wiki/Hypohidrotic_ectodermal_dysplasia" title="Hypohidrotic ectodermal dysplasia">Hypohidrotic ectodermal dysplasia (EDA)</a></li> <li><a href="/wiki/X-linked_ichthyosis" title="X-linked ichthyosis">X-linked ichthyosis</a></li> <li><a href="/wiki/X-linked_endothelial_corneal_dystrophy" title="X-linked endothelial corneal dystrophy">X-linked endothelial corneal dystrophy</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Neuromuscular_disease" title="Neuromuscular disease">Neuromuscular</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/Becker_muscular_dystrophy" title="Becker muscular dystrophy">Becker muscular dystrophy</a>/<a href="/wiki/Duchenne_muscular_dystrophy" title="Duchenne muscular dystrophy">Duchenne</a></li> <li><a href="/wiki/Centronuclear_myopathy" title="Centronuclear myopathy">Centronuclear myopathy (MTM1)</a></li> <li><a href="/wiki/Conradi%E2%80%93H%C3%BCnermann_syndrome" title="Conradi–Hünermann syndrome">Conradi–Hünermann syndrome</a></li> <li><a href="/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy" title="Emery–Dreifuss muscular dystrophy">Emery–Dreifuss muscular dystrophy 1</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Urologic_disease" title="Urologic disease">Urologic</a></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/Alport_syndrome" title="Alport syndrome">Alport syndrome</a></li> <li><a href="/wiki/Dent%27s_disease" title="Dent's disease">Dent's disease</a></li> <li><a class="mw-selflink selflink">X-linked nephrogenic diabetes insipidus</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Bone" title="Bone">Bone</a>/<a href="/wiki/Tooth" title="Tooth">tooth</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/Amelogenesis_imperfecta" title="Amelogenesis imperfecta">AMELX Amelogenesis imperfecta</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">No primary system</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/Barth_syndrome" title="Barth syndrome">Barth syndrome</a></li> <li><a href="/wiki/McLeod_syndrome" title="McLeod syndrome">McLeod syndrome</a></li> <li><a href="/wiki/Smith%E2%80%93Fineman%E2%80%93Myers_syndrome" title="Smith–Fineman–Myers syndrome">Smith–Fineman–Myers syndrome</a></li> <li><a href="/wiki/Simpson%E2%80%93Golabi%E2%80%93Behmel_syndrome" title="Simpson–Golabi–Behmel syndrome">Simpson–Golabi–Behmel syndrome</a></li> <li><a href="/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome" title="Mohr–Tranebjærg syndrome">Mohr–Tranebjærg syndrome</a></li> <li><a href="/wiki/Nasodigitoacoustic_syndrome" title="Nasodigitoacoustic syndrome">Nasodigitoacoustic syndrome</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><td colspan="2" class="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="col" class="navbox-title" colspan="2"><div id="X-linked_dominant51" style="font-size:114%;margin:0 4em"><a href="/wiki/X-linked_dominant_inheritance" title="X-linked dominant inheritance">X-linked dominant</a></div></th></tr><tr><td colspan="2" class="navbox-list navbox-odd hlist ;" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/X-linked_hypophosphatemia" title="X-linked hypophosphatemia">X-linked hypophosphatemia</a></li> <li><a href="/wiki/Focal_dermal_hypoplasia" title="Focal dermal hypoplasia">Focal dermal hypoplasia</a></li> <li><a href="/wiki/Fragile_X_syndrome" title="Fragile X syndrome">Fragile X syndrome</a></li> <li><a href="/wiki/Aicardi_syndrome" title="Aicardi syndrome">Aicardi syndrome</a></li> <li><a href="/wiki/Incontinentia_pigmenti" title="Incontinentia pigmenti">Incontinentia pigmenti</a></li> <li><a href="/wiki/Rett_syndrome" title="Rett syndrome">Rett syndrome</a></li> <li><a href="/wiki/CHILD_syndrome" title="CHILD syndrome">CHILD syndrome</a></li> <li><a href="/wiki/Lujan%E2%80%93Fryns_syndrome" title="Lujan–Fryns syndrome">Lujan–Fryns syndrome</a></li> <li><a href="/wiki/Orofaciodigital_syndrome_1" title="Orofaciodigital syndrome 1">Orofaciodigital syndrome 1</a></li> <li><a href="/wiki/Craniofrontonasal_dysplasia" title="Craniofrontonasal dysplasia">Craniofrontonasal dysplasia</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="Diseases_of_ion_channels261" 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_channels261" 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 class="mw-selflink selflink">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="Cell_surface_receptor_deficiencies312" 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_deficiencies312" 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 class="mw-selflink selflink">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><noscript><img src="https://login.wikimedia.org/wiki/Special:CentralAutoLogin/start?useformat=desktop&type=1x1&usesul3=0" alt="" width="1" height="1" style="border: none; position: absolute;"></noscript> <div class="printfooter" data-nosnippet="">Retrieved from "<a dir="ltr" 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