Genetic Disorders

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href="/">Home</a></li> <li><a href="/health">Health</a></li> <li><a href="/health/For-Patients-and-Families">For Patients and Families</a></li> <li>Genetic Disorders</li> </ol> </nav> <div class="breadcrumb-main show-for-small-only hide"> <div class="crumb-parent"> <div class="link-block collapsed"> <a href="/">Home</a> </div> <div class="link-block collapsed"> <a href="/health">Health</a> </div> </div> <div class="link-block current-block "> <div class="current-page remove-padding"> <a href="/health/For-Patients-and-Families">For Patients and Families</a></div> <span class="drop-arrow-container"> <i class="fa fa-chevron-down"></i> </span> </div> </div> </div> </div> </div> </div> <div id="block-languageswitch"> </div> </header> <main id="main" role="main"> <a id="main-content" tabindex="-1"></a> <img src="/themes/custom/nhgri/assets/global/NHGRI_grey_teal.svg" class="logo-print-only" alt="NHGRI logo" /> <div class="region region-content"> <div data-drupal-messages-fallback class="hidden"></div><div id="block-nhgri-content"> <article data-history-node-id="17781" class="node node--type-generic-template node--promoted node--view-mode-full nhgri_custom"> <div class="node__content"> <style> @media (min-width: 1024px) { .component.basic-hero#c-ec22a07c-8c4a-41d0-83c5-6c79ffeda0d1 .interior::after { content: ''; display: inline-block; position: absolute; background-image: url(/themes/custom/nhgri/assets/patterns/pattern-dots-lightgray.svg); background-repeat: no-repeat; background-size: cover; pointer-events: none; z-index: 100; -webkit-transform: rotate(90deg); -ms-transform: rotate(90deg); transform: rotate(90deg); width: 140px; height: 132px; right: 2rem; bottom: -4rem; opacity: 0.5; } } </style> <div class="component basic-hero dark navy" id="c-ec22a07c-8c4a-41d0-83c5-6c79ffeda0d1"> <div class="interior"> <div class="grid-container"> <div class="grid-x align-bottom wrapper"> <div class="cell medium-9"> <span class="accent teal left"></span> <h1>Genetic Disorders</h1> </div> </div> </div> </div> </div> <div class="component intro-text light white" id="c-d7dd0fce-2138-4e82-be86-7238219dc9ef"> <div class="interior"> <div class="grid-container"> <div class="grid-x"> <div class="cell wrapper"> <p>Many human diseases have a genetic component. Some of these conditions are under investigation by researchers at or associated with the National Human Genome Research Institute (NHGRI).</p> </div> </div> </div> </div> </div> <div class="component expandable-text no-js light white" id="c-6736dbf4-d97e-41bc-8368-08565670d761"> <div class="interior "> <div class="grid-container "> <div class="hide-for-small-only"> <div class="grid-x grid-margin-x content-container top-rule"> <div class="cell large-4 heading-cell"> <h2 class="heading">Overview</h2> </div> <div class="cell large-8 text-cell"> <div class="content "> <p>A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes (changes in the number or structure of entire chromosomes, the structures that carry genes).<br><br>As we unlock the secrets of the human genome (the complete set of human genes), we are learning that nearly all diseases have a genetic component. Some diseases are caused by mutations that are inherited from the parents and are present in an individual at birth, like sickle cell disease. Other diseases are caused by acquired mutations in a gene or group of genes that occur during a person's life. Such mutations are not inherited from a parent, but occur either randomly or due to some environmental exposure (such as cigarette smoke). These include many cancers, as well as some forms of neurofibromatosis.</p> </div> </div> </div> </div> <div class="expandable-mobile show-for-small-only "> <ul class="accordion" data-accordion data-allow-all-closed="true"> <li class="accordion-item " data-accordion-item> <a href="#" class="accordion-title">Overview</a> <div class="accordion-content" data-tab-content> <div class="grid-x grid-margin-x"> <div class="cell large-8 text-cell"> <div class="mobile-contents"> <p>A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes (changes in the number or structure of entire chromosomes, the structures that carry genes).<br><br>As we unlock the secrets of the human genome (the complete set of human genes), we are learning that nearly all diseases have a genetic component. Some diseases are caused by mutations that are inherited from the parents and are present in an individual at birth, like sickle cell disease. Other diseases are caused by acquired mutations in a gene or group of genes that occur during a person's life. Such mutations are not inherited from a parent, but occur either randomly or due to some environmental exposure (such as cigarette smoke). These include many cancers, as well as some forms of neurofibromatosis.</p> </div> </div> </div> </div> </li> </ul> </div> </div> </div> </div> <style> .component.org-unit-blocks#c-65272680-2405-422c-9752-98fcf5e0a4dd .block-thumbnail:after { content: ''; background-size: cover; background-position: center; position: absolute; top: 0; left: 0; height: 100%; width: 100%; pointer-events: none; } </style> <div class="component org-unit-blocks light white" id="c-65272680-2405-422c-9752-98fcf5e0a4dd"> <div class="interior"> <div class="grid-container"> <div class="grid-x grid-padding-x"> <div class="cell large-10 align-center text-center intro"> <h2>List of Genetic Disorders</h2> <span class="accent teal center"></span> <p>This list of genetic, orphan and rare diseases is provided for informational purposes only and is by no means comprehensive.</p> </div> </div> <div class="grid-x grid-margin-x block-grid"> <style> .component.org-unit-blocks#c-65272680-2405-422c-9752-98fcf5e0a4dd #block-0 .block-thumbnail:after { background-image: url(/sites/default/files/4.2.5.1_Achondroplasia.jpg); } </style> <div class="cell medium-6 large-4 block light grey" id="block-0" data-equalizer-watch="block-height"> <a href="/Genetic-Disorders/Achondroplasia" target="_self"> <div class="grid-x align-center align-middle"> <div class="cell medium-4 large-5 show-for-medium block-thumbnail"> <img src="/sites/default/files/4.2.5.1_Achondroplasia.jpg" alt="About Achondroplasia | NHGRI"> </div> <div class="cell medium-8 large-7 text"><div class="arrow royal-blue">About Achondroplasia</div></div> </div> </a> </div> <style> .component.org-unit-blocks#c-65272680-2405-422c-9752-98fcf5e0a4dd #block-1 .block-thumbnail:after { background-image: url(/sites/default/files/4.2.5.2_Alpha-1_Antitrypsin_Deficiency__AATD_.jpg); } </style> <div class="cell medium-6 large-4 block light grey" id="block-1" data-equalizer-watch="block-height"> <a href="/Genetic-Disorders/Alpha-1-Antitrypsin-Deficiency" target="_self"> <div class="grid-x align-center align-middle"> <div class="cell medium-4 large-5 show-for-medium block-thumbnail"> <img src="/sites/default/files/4.2.5.2_Alpha-1_Antitrypsin_Deficiency__AATD_.jpg" alt="About Alpha-1 Antitrypsin Deficiency | NHGRI"> </div> <div class="cell medium-8 large-7 text"><div class="arrow royal-blue">About Alpha-1 Antitrypsin Deficiency</div></div> </div> </a> </div> <style> .component.org-unit-blocks#c-65272680-2405-422c-9752-98fcf5e0a4dd #block-2 .block-thumbnail:after { background-image: url(/sites/default/files/4.2.5.3_Antiphospholipid_Syndrome.jpg); } </style> <div class="cell medium-6 large-4 block light grey" id="block-2" data-equalizer-watch="block-height"> <a href="/Genetic-Disorders/Antiphospholipid-Syndrome" target="_self"> <div class="grid-x align-center align-middle"> <div class="cell medium-4 large-5 show-for-medium block-thumbnail"> <img src="/sites/default/files/4.2.5.3_Antiphospholipid_Syndrome.jpg" alt="About Antiphospholipid Syndrome | NHGRI"> </div> <div class="cell medium-8 large-7 text"><div class="arrow royal-blue">About Antiphospholipid Syndrome</div></div> </div> </a> </div> <style> .component.org-unit-blocks#c-65272680-2405-422c-9752-98fcf5e0a4dd #block-3 .block-thumbnail:after { background-image: url(/sites/default/files/4.2.5.51_Attention_Deficit_Hyperactivity_Disorder__ADHD_.jpg); } </style> <div class="cell medium-6 large-4 block light grey" id="block-3" data-equalizer-watch="block-height"> <a href="/Genetic-Disorders/Attention-Deficit-Hyperactivity-Disorder" target="_self"> <div class="grid-x align-center align-middle"> <div class="cell medium-4 large-5 show-for-medium block-thumbnail"> <img src="/sites/default/files/4.2.5.51_Attention_Deficit_Hyperactivity_Disorder__ADHD_.jpg" alt="Attention Deficit Hyperactivity Disorder (ADHD) | NHGRI"> </div> <div class="cell medium-8 large-7 text"><div class="arrow royal-blue">About Attention Deficit Hyperactivity Disorder</div></div> </div> </a> </div> <style> .component.org-unit-blocks#c-65272680-2405-422c-9752-98fcf5e0a4dd #block-4 .block-thumbnail:after { background-image: url(/sites/default/files/4.2.5.4_Autism.jpg); } </style> <div class="cell medium-6 large-4 block light grey" id="block-4" data-equalizer-watch="block-height"> <a href="/Genetic-Disorders/Autism" target="_self"> <div class="grid-x align-center align-middle"> <div class="cell medium-4 large-5 show-for-medium block-thumbnail"> <img src="/sites/default/files/4.2.5.4_Autism.jpg" alt="About Autism | NHGRI"> </div> <div class="cell medium-8 large-7 text"><div class="arrow royal-blue">About Autism</div></div> </div> </a> </div> <style> .component.org-unit-blocks#c-65272680-2405-422c-9752-98fcf5e0a4dd #block-5 .block-thumbnail:after { background-image: url(/sites/default/files/4.2.5.5_Autosomal_Polycystic_Kidney_Disease.jpg); } </style> <div class="cell medium-6 large-4 block light grey" id="block-5" data-equalizer-watch="block-height"> <a 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src="/sites/default/files/4.2.5.6_Breast_Cancer.jpg" alt="About Breast Cancer | NHGRI"> </div> <div class="cell medium-8 large-7 text"><div class="arrow royal-blue">About Breast Cancer</div></div> </div> </a> </div> <style> .component.org-unit-blocks#c-65272680-2405-422c-9752-98fcf5e0a4dd #block-7 .block-thumbnail:after { background-image: url(/sites/default/files/4.2.5.7_Charcot-Marie-Tooth-Disease.jpg); } </style> <div class="cell medium-6 large-4 block light grey" id="block-7" data-equalizer-watch="block-height"> <a href="/Genetic-Disorders/Charcot-Marie-Tooth-Disease" target="_self"> <div class="grid-x align-center align-middle"> <div class="cell medium-4 large-5 show-for-medium block-thumbnail"> <img src="/sites/default/files/4.2.5.7_Charcot-Marie-Tooth-Disease.jpg" alt="About Charcot-Marie-Tooth Disease | NHGRI"> </div> <div class="cell medium-8 large-7 text"><div class="arrow royal-blue">About Charcot-Marie-Tooth Disease</div></div> </div> </a> </div> <style> .component.org-unit-blocks#c-65272680-2405-422c-9752-98fcf5e0a4dd #block-8 .block-thumbnail:after { background-image: url(/sites/default/files/4.2.5.8_Colon_Cancer.jpg); } </style> <div class="cell medium-6 large-4 block light grey" id="block-8" data-equalizer-watch="block-height"> <a href="/Genetic-Disorders/Colon-Cancer" target="_self"> <div class="grid-x align-center align-middle"> <div class="cell medium-4 large-5 show-for-medium block-thumbnail"> <img src="/sites/default/files/4.2.5.8_Colon_Cancer.jpg" alt="About Colon Cancer | NHGRI"> </div> <div class="cell medium-8 large-7 text"><div class="arrow royal-blue">About Colon Cancer</div></div> </div> </a> </div> <style> .component.org-unit-blocks#c-65272680-2405-422c-9752-98fcf5e0a4dd #block-9 .block-thumbnail:after { background-image: url(/sites/default/files/4.2.5.9_Cri_du_Chat.jpg); } </style> <div class="cell medium-6 large-4 block light grey" id="block-9" data-equalizer-watch="block-height"> <a href="/Genetic-Disorders/Cri-du-Chat" target="_self"> <div class="grid-x align-center align-middle"> <div class="cell medium-4 large-5 show-for-medium block-thumbnail"> <img src="/sites/default/files/4.2.5.9_Cri_du_Chat.jpg" alt="About Cri du Chat Syndrome | NHGRI"> </div> <div class="cell medium-8 large-7 text"><div class="arrow royal-blue">About Cri du Chat Syndrome</div></div> </div> </a> </div> <style> .component.org-unit-blocks#c-65272680-2405-422c-9752-98fcf5e0a4dd #block-10 .block-thumbnail:after { background-image: url(/sites/default/files/4.2.5.10_Crohn_s_Disease.jpg); } </style> <div class="cell medium-6 large-4 block light grey" id="block-10" data-equalizer-watch="block-height"> <a href="/Genetic-Disorders/Crohns-Disease" target="_self"> <div class="grid-x align-center align-middle"> <div class="cell medium-4 large-5 show-for-medium block-thumbnail"> <img src="/sites/default/files/4.2.5.10_Crohn_s_Disease.jpg" alt="About Crohn's Disease | NHGRI"> </div> <div class="cell medium-8 large-7 text"><div class="arrow royal-blue">About Crohn's Disease</div></div> </div> </a> </div> <style> .component.org-unit-blocks#c-65272680-2405-422c-9752-98fcf5e0a4dd #block-11 .block-thumbnail:after { background-image: url(/sites/default/files/4.2.5.11_Cystic_Fibrosis.jpg); } </style> <div class="cell medium-6 large-4 block light grey" id="block-11" data-equalizer-watch="block-height"> <a href="/Genetic-Disorders/Cystic-Fibrosis" target="_self"> <div class="grid-x align-center align-middle"> <div class="cell medium-4 large-5 show-for-medium block-thumbnail"> <img src="/sites/default/files/4.2.5.11_Cystic_Fibrosis.jpg" alt="About Cystic Fibrosis | NHGRI"> </div> <div class="cell medium-8 large-7 text"><div class="arrow royal-blue">About Cystic Fibrosis</div></div> </div> </a> </div> <style> .component.org-unit-blocks#c-65272680-2405-422c-9752-98fcf5e0a4dd #block-12 .block-thumbnail:after { background-image: url(/sites/default/files/4.2.5.12_Dercum_Disease.jpg); } </style> <div class="cell medium-6 large-4 block light grey" id="block-12" data-equalizer-watch="block-height"> <a href="/Genetic-Disorders/Dercum-Disease" target="_self"> <div class="grid-x align-center align-middle"> <div class="cell medium-4 large-5 show-for-medium block-thumbnail"> <img src="/sites/default/files/4.2.5.12_Dercum_Disease.jpg" alt="About Dercum Disease | NHGRI"> </div> <div class="cell medium-8 large-7 text"><div class="arrow royal-blue">About Dercum Disease</div></div> </div> </a> </div> <style> .component.org-unit-blocks#c-65272680-2405-422c-9752-98fcf5e0a4dd #block-13 .block-thumbnail:after { background-image: url(/sites/default/files/_4.2.5.13_Down_Syndrome.jpg); } </style> <div class="cell medium-6 large-4 block light grey" id="block-13" data-equalizer-watch="block-height"> <a href="/Genetic-Disorders/Down-Syndrome" target="_self"> <div class="grid-x align-center align-middle"> <div class="cell medium-4 large-5 show-for-medium block-thumbnail"> <img src="/sites/default/files/_4.2.5.13_Down_Syndrome.jpg" alt="About Down Syndrome | NHGRI"> </div> <div class="cell medium-8 large-7 text"><div class="arrow royal-blue">About Down Syndrome</div></div> </div> </a> </div> <style> .component.org-unit-blocks#c-65272680-2405-422c-9752-98fcf5e0a4dd #block-14 .block-thumbnail:after { background-image: url(/sites/default/files/4.2.5.14_Duane_Syndrome.jpg); } </style> <div class="cell medium-6 large-4 block light grey" id="block-14" data-equalizer-watch="block-height"> <a href="/Genetic-Disorders/Duane-Syndrome" target="_self"> <div class="grid-x align-center align-middle"> <div class="cell medium-4 large-5 show-for-medium block-thumbnail"> <img src="/sites/default/files/4.2.5.14_Duane_Syndrome.jpg" alt="About Duane Syndrome | NHGRI"> </div> <div class="cell medium-8 large-7 text"><div class="arrow royal-blue">About Duane Syndrome</div></div> </div> </a> </div> <style> .component.org-unit-blocks#c-65272680-2405-422c-9752-98fcf5e0a4dd #block-15 .block-thumbnail:after { background-image: url(/sites/default/files/4.2.5.15_Duchenne_Muscular_Dystrophy.jpg); } </style> <div class="cell medium-6 large-4 block light grey" id="block-15" data-equalizer-watch="block-height"> <a href="/Genetic-Disorders/Duchenne-Muscular-Dystrophy" target="_self"> <div class="grid-x align-center align-middle"> <div class="cell medium-4 large-5 show-for-medium block-thumbnail"> <img src="/sites/default/files/4.2.5.15_Duchenne_Muscular_Dystrophy.jpg" alt="About Duchenne Muscular Dystrophy | NHGRI"> </div> <div class="cell medium-8 large-7 text"><div class="arrow royal-blue">About Duchenne Muscular Dystrophy</div></div> </div> </a> </div> <style> .component.org-unit-blocks#c-65272680-2405-422c-9752-98fcf5e0a4dd #block-16 .block-thumbnail:after { background-image: url(/sites/default/files/4.2.5.16_Factor_V_Leiden_Thrombophilia.jpg); } </style> <div class="cell medium-6 large-4 block light grey" id="block-16" data-equalizer-watch="block-height"> <a 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Fever</div></div> </div> </a> </div> <style> .component.org-unit-blocks#c-65272680-2405-422c-9752-98fcf5e0a4dd #block-19 .block-thumbnail:after { background-image: url(/sites/default/files/4.2.5.19_Fragile_X_Syndrome.jpg); } </style> <div class="cell medium-6 large-4 block light grey" id="block-19" data-equalizer-watch="block-height"> <a href="/Genetic-Disorders/Fragile-X-Syndrome" target="_self"> <div class="grid-x align-center align-middle"> <div class="cell medium-4 large-5 show-for-medium block-thumbnail"> <img src="/sites/default/files/4.2.5.19_Fragile_X_Syndrome.jpg" alt="About Fragile X Syndrome | NHGRI"> </div> <div class="cell medium-8 large-7 text"><div class="arrow royal-blue">About Fragile X Syndrome</div></div> </div> </a> </div> <style> .component.org-unit-blocks#c-65272680-2405-422c-9752-98fcf5e0a4dd #block-20 .block-thumbnail:after { background-image: url(/sites/default/files/4.2.5.21_Gaucher_Disease.jpg); } </style> <div class="cell medium-6 large-4 block light grey" 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url(/sites/default/files/4.2.5.24_Holoprosencephaly.jpg); } </style> <div class="cell medium-6 large-4 block light grey" id="block-23" data-equalizer-watch="block-height"> <a href="/Genetic-Disorders/Holoprosencephaly" target="_self"> <div class="grid-x align-center align-middle"> <div class="cell medium-4 large-5 show-for-medium block-thumbnail"> <img src="/sites/default/files/4.2.5.24_Holoprosencephaly.jpg" alt="About Holoprosencephaly | NHGRI"> </div> <div class="cell medium-8 large-7 text"><div class="arrow royal-blue">About Holoprosencephaly</div></div> </div> </a> </div> <style> .component.org-unit-blocks#c-65272680-2405-422c-9752-98fcf5e0a4dd #block-24 .block-thumbnail:after { background-image: url(/sites/default/files/4.2.5.25_Huntington_s_Disease.jpg); } </style> <div class="cell medium-6 large-4 block light grey" id="block-24" data-equalizer-watch="block-height"> <a href="/Genetic-Disorders/Huntingtons-Disease" target="_self"> <div class="grid-x align-center align-middle"> 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url(/sites/default/files/4.2.5.33_Phenylketonuria.jpg); } </style> <div class="cell medium-6 large-4 block light grey" id="block-34" data-equalizer-watch="block-height"> <a href="/Genetic-Disorders/Phenylketonuria" target="_self"> <div class="grid-x align-center align-middle"> <div class="cell medium-4 large-5 show-for-medium block-thumbnail"> <img src="/sites/default/files/4.2.5.33_Phenylketonuria.jpg" alt="About Phenylketonuria | NHGRI"> </div> <div class="cell medium-8 large-7 text"><div class="arrow royal-blue">About Phenylketonuria</div></div> </div> </a> </div> <style> .component.org-unit-blocks#c-65272680-2405-422c-9752-98fcf5e0a4dd #block-35 .block-thumbnail:after { background-image: url(/sites/default/files/4.2.5.34_Poland_Anomaly.jpg); } </style> <div class="cell medium-6 large-4 block light grey" id="block-35" data-equalizer-watch="block-height"> <a href="/Genetic-Disorders/Poland-Anomaly" target="_self"> <div class="grid-x align-center align-middle"> <div class="cell 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.component.org-unit-blocks#c-65272680-2405-422c-9752-98fcf5e0a4dd #block-37 .block-thumbnail:after { background-image: url(/sites/default/files/4.2.5.36_Progeria.jpg); } </style> <div class="cell medium-6 large-4 block light grey" id="block-37" data-equalizer-watch="block-height"> <a href="/Genetic-Disorders/Progeria" target="_self"> <div class="grid-x align-center align-middle"> <div class="cell medium-4 large-5 show-for-medium block-thumbnail"> <img src="/sites/default/files/4.2.5.36_Progeria.jpg" alt="About 鈥婸rogeria | NHGRI"> </div> <div class="cell medium-8 large-7 text"><div class="arrow royal-blue">About Progeria</div></div> </div> </a> </div> <style> .component.org-unit-blocks#c-65272680-2405-422c-9752-98fcf5e0a4dd #block-38 .block-thumbnail:after { background-image: url(/sites/default/files/4.2.5.37_Prostate_Cancer.jpg); } </style> <div class="cell medium-6 large-4 block light grey" id="block-38" data-equalizer-watch="block-height"> <a href="/Genetic-Disorders/Prostate-Cancer" 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