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Orphanet : Diseases
<!DOCTYPE html> <html lang="en"> <head> <script src="https://tarteaucitron.io/load.js?domain=www.orpha.net&uuid=bf83258dd5f3bc0f8040bc1a95eedc2ec3ca1a62"></script> <meta charset="UTF-8"> <meta name="viewport" content="width=device-width, initial-scale=1"> <meta name="google-site-verification" content="9sM3zazZuWJ_PI134Dxgq_MqlUEWRYULwgLG7sAaZ4w" > <title>Orphanet : Diseases</title> <link rel="shortcut icon" href="/build/images/favicon.png" type="image/png" /> <script async src="https://www.googletagmanager.com/gtag/js?id=G-VY3XS4G203"></script> <script> window.dataLayer = window.dataLayer || []; function gtag(){dataLayer.push(arguments);} gtag('js', new Date()); gtag('config', 'G-VY3XS4G203'); </script> <link rel="stylesheet" href="/build/app.c889ea47.css"> </head> <body> <header class="menu d-print-none"> <div class="fixed-top container-fluid d-flex justify-content-between p-0"> <nav> <a href="#menu" class="d-inline-block h-100"> <div class="burger-button closed h-100 py-3 px-2 d-flex 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col-9 row d-lg-flex d-none px-3 py-5"> <div class="col-6 pe-lg-4"> <div class="border-end border-1 border-dark"> <h5 class="orpha-blue fw-bold">Orphanet produces its data according to published procedures</h5> <a class="btn-blue mt-3" href="/en/other-information/procedures">Read</a> </div> </div> <div class="col-6 ps-lg-4 news-menu"> <ul class="list-unstyled mx-auto"> <li><a class="orpha-blue fw-bold" href="//ec.europa.eu/health-eu/health_problems/rare_diseases/index_en.html" title="Rare Diseases - European Commission">Rare Diseases - European Commission</a></li> <li><a class="orpha-blue fw-bold" href="//www.rd-action.eu/" title="RD-Action">RD-Action</a></li> <li><a class="orpha-blue fw-bold" href="//www.ema.europa.eu/ema/index.jsp?curl=pages/medicines/landing/orphan_search.jsp&mid=WC0b01ac058001d12b" title="European Medicines Agency">European Medicines Agency</a></li> <li><a class="orpha-blue fw-bold" href="//www.irdirc.org/" title="IRDiRC">IRDiRC</a></li> <li><a class="orpha-blue fw-bold" href="//rarediseases.info.nih.gov/" title="Office of rare diseases research (US)">Office of rare diseases research (US)</a></li> <li><a class="orpha-blue fw-bold" href="https://ec.europa.eu/health/rare_diseases/expert_group_en" title="EC Expert Group on Rare Diseases (EU)">EC Expert Group on Rare Diseases (EU)</a></li> <li><a class="orpha-blue fw-bold" href="//ec.europa.eu/health/ern/networks_en" title="European Reference Networks">European Reference Networks</a></li> <li><a class="orpha-blue fw-bold" href="https://ojrd.biomedcentral.com/" title="header.ern_ojrd_texttext">OJRD</a> </li> </ul> </div> </div> <div class="col-lg-3 col-12 row bg-white ms-2 text-center report-button align-self-start opacity-hover"> <a href="/en/other-information/reports" class="text-white h2 text-decoration-none p-5">Orphanet Report Series</a> </div> </div> <div class="container d-flex mx-auto justify-content-around gap-4 my-4 flex-wrap"> <div class="col-lg-4 col-12 row text-center opacity-hover 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aria-hidden="true"> <div class="modal-dialog"> <div class="modal-content rounded-0"> <div class="modal-header p-0 justify-content-end"> <div type="button" class="text-white bg-orpa-blue py-1 px-3 fs-4" data-bs-dismiss="modal" aria-label="Close">X</div> </div> <div class="modal-body"> <ul class="list-unstyled text-center"> <li class="mb-4"> <a class="orpha-blue" href="https://www.twitter.com/share?url=http://www.orpha.net/en/disease/gene" target="_blank" title="Share"> <i class="fab fa-lg fa-twitter"></i> Share</a> </li> <li> <a class="orpha-blue" href="https://www.facebook.com/sharer/sharer.php?u=http://www.orpha.net/en/disease/gene" target="_blank" title="Share"> <i class="fab fa-lg fa-facebook-square"></i> Share</a> </li> </ul> </div> </div> </div> </div> </header> <main class="container-fluid p-0"> <article class="diseases w-100 py-5"> <header class="row-fluid text-center"> <div class="col-12 my-4"> <div class="current-event"> <div class="mt-5 d-flex justify-content-center"> <div class="bandeau-search"> <a href="https://don.telethon.fr/"> <img src="/images/banner.png" alt="Telethon 2024" class="img-fluid" /> </a> </div> </div> <h1 class="current-image-title mb-0">Knowledge on <strong>rare diseases</strong> and <strong>orphan drugs</strong></h1> <a class="orpha-blue small text-decoration-underline" href="http://international.orphanews.org/summary/editorial/nl/id-200327.html" target="_blank" title="COVID-19 & Rare diseases"> COVID-19 & Rare diseases </a> <img class="img-fluid" alt="logo" src="/build/images/logoMain.png" width="4%"> <a class="orpha-blue small text-decoration-underline" href="https://international.orphanews.org/newsletter-en/editorial/nl/en20200314.html#or_resources-for-refugees-and-displaced-persons-with-rare-diseasesFR/IP_22_1469" target="_blank" title="Rare Diseases Resources for Refugees/Displaced Persons"> Rare Diseases Resources for Refugees/Displaced Persons </a> </div> </div> </header> <article class="row gx-0 gb-2"> <div class="col-xxl-9 col-lg-11 col-11 mx-auto service-wrapper pb-5"> <header class="row g-0 mb-4"> <aside class="d-none d-sm-none d-lg-block col-2"> <div class="h-100 w-100 d-flex flex-column justify-content-evenly text-center service-card py-4 px-2"> <span class="icon-container"><i class="fas fa-viruses fa-3x"></i></span> <span>Rare diseases</span> </div> </aside> <div class="col-10"> <div class="h-100 w-100 d-flex flex-column justify-content-evenly ps-4 mt-4 mt-md-0 d-print-none"> <span class="my-sm-3 icon-container"><a href="/">Homepage</a> > <a href="/en/disease">Rare diseases</a> > <strong><a href="/en/disease/gene">Genes</a></strong></span> <h2>Search for a <strong>gene</strong></h2> </div> </div> </header> <main class="row g-0"> <nav class="d-none d-sm-none d-lg-block col-2"> <ul class="list-unstyled"> <li class=""><a target="_self" href=/en/disease> Search</a></li> <li class=""><a target="_self" href=/en/disease/signs> Clinical Signs and Symptoms</a></li> <li class=""><a target="_self" href=/en/disease/classification> Classifications</a></li> <li class="current"><a target="_self" href=/en/disease/gene> Genes</a></li> <li class=""><a target="_self" href=/en/disease/disability> Disability</a></li> <li class=""><a target="_self" href=/en/disease/encyclopedia> Encyclopaedia</a></li> <li class=""><a target="_self" href=/en/disease/emergency-guidelines> Emergency guidelines</a></li> <li><a target="_blank" href=//nbs.orphanet.app/?lang=en> Newborn screening library</a></li> <li><a target="_blank" href=https://orphanetguides.orphanet.app/Orphanet_rdk_en.htm> App RDK TM</a></li> <li class=""><a target="_self" href=/en/other-information/procedures> Sources/procedures</a></li> <li class=""><a target="_self" href=/en/other-information/reports> Orphanet Reports series</a></li> <li><a target="_blank" href=//www.orphadata.com/> Download Dataset</a></li> </ul> </nav> <div class="col-sm-12 col-lg-10 col-xl-10"> <fieldset class="service-color-box align-self-start mx-4 p-3 mb-5 d-print-none"> <form name="gene_search" method="post" action="/en/disease/gene"> <div class="row"> <span class="dark-red col-md-9 col-xl-10 col-12 text-end">*</span> <div class="col-12 col-xl-10 col-md-9"> <div> <input type="text" id="gene_search_name" name="gene_search[name]" required="required" placeholder="Gene name or symbol" class="js-autocomplete form-control" data-autocomplete-url="/en/disease/autocomplete" /> <small class="dark-red"> (*) mandatory field </small> </div> </div> <div class="col-12 col-xl-2 col-md-3 mt-2 mt-md-0"> <button type="submit" id="gene_search_search" name="gene_search[search]" class="btn-primary btn">Search</button> </div> </div> <div class="mode mt-3 p-2 col-12 col-xl-6 col-lg-10 mb-3"> <div id="gene_search_mode" class="search-mode"><div class="form-check"><input type="radio" id="gene_search_mode_0" name="gene_search[mode]" required="required" class="form-check-input" value="gene" checked="checked" /> <label class="form-check-label required" for="gene_search_mode_0">Gene name or symbol</label></div><div class="form-check"><input type="radio" id="gene_search_mode_1" name="gene_search[mode]" required="required" class="form-check-input" value="name" /> <label class="form-check-label required" for="gene_search_mode_1">Disease name</label></div><div class="form-check"><input type="radio" id="gene_search_mode_2" name="gene_search[mode]" required="required" class="form-check-input" value="mimg" /> <label class="form-check-label required" for="gene_search_mode_2">OMIM gene</label></div><div class="form-check"><input type="radio" id="gene_search_mode_3" name="gene_search[mode]" required="required" class="form-check-input" value="mim" /> <label class="form-check-label required" for="gene_search_mode_3">OMIM disease</label></div></div> </div> </form> <div class="more-options float-md-end float-sm-start"> <i class="fas orpha-blue fa-chevron-right"></i> <a href="//id-genes.orphanet.app/ithaca/">List of intellectual disability related genes</a> </div> </fieldset> <div class="row g-0"> <div class="col-12"> <div class="help px-4 mt-4"> <h3>Help</h3> <ul class="list-unstyled"> <li> <span class="icon-container"><i class="mx-2 fab fa-lg fa-youtube"></i></span> <a target="_blank" href="https://youtu.be/yNlizny6t0k?si=t3NbNBX8cK7Suy0Y">Watch the 'search for a gene' video tutorial (in English)</a> </li> <li> <span class="icon-container"><i class="mx-2 fas fa-lg fa-file-pdf"></i></span> <a href="/pdfs/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf" target="_blank" rel="noopener">Procedures : Orphanet inventory of genes related to rare diseases</a> </li> </ul> <p>To better describe rare disorders of genetic origin, Orphanet provides information on every gene related to a rare disorder. The relationship between genes and their related rare disorders is provided. </p> <p>This information includes the genetic international nomenclature, the gene typology (gene with protein product, locus, non-coding RNA), the chromosomal location, the cross-mappings with international genetic databases. </p> <p class="fw-bold">Enter your requested gene symbol/name, disease name or gene/disease MIM number (<a href="//www.omim.org/">Online Mendelian Inheritance in Man</a>). </p> <p>You can access aggregated datasets from Orphanet concerning genes associated with rare diseases via <a href="//www.orphadata.com/">Orphadata</a>. </p> <div class="warning p-5 mb-5"> <h4><i class="fas fa-sm fa-exclamation-triangle"></i> Warning</h4> <p>The provided information is based on published scientific articles, surveys of expert websites and expert advice. Candidate genes and biomarkers are excluded from the inventory unless a clinical test is made available in one of the Orphanet consortium鈥檚 countries. Information in Orphanet is updated on a regular basis. It may happen that new discoveries are made in between updates and do not yet appear. Professionals are always encouraged to consult the most recent publications before making any decisions based on the information provided.</p> <p>Information in Orphanet is not intended to replace professional health care. Orphanet cannot be held responsible for harmful, truncated or erroneous use of any information found in the Orphanet database.</p> </div> <p> <a target="_blank" href="https://thegencc.org/"><img src="/build/images/The_GenCC_little.png" alt=""></a> Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources. </p> </div> </div> </div> </div> </main> </div> </article> </article> </main> <script src="/build/runtime.f3575a88.js" defer></script><script src="/build/755.5a8586e9.js" defer></script><script src="/build/673.f47275b8.js" defer></script><script src="/build/467.7cd7293e.js" defer></script><script src="/build/app.f38c68b0.js" defer></script> </body> <footer> <section class="partners bg-white my-3 d-print-none"> <h3 class="fs-5 text-center orpha-blue fw-bold">With the support of</h3> <div class="row col-lg-10 mx-auto my-4"> <ul class="list-unstyled d-inline-flex col-12 col-lg-6 flex-wrap justify-content-evenly align-items-center border-blue"> <li class="d-inline"> <a title="Site Internet de l'Inserm" href="//www.inserm.fr/" target="_blank"> <img src="/build/images/partners/logo-inserm.png" height="20px" alt="Site Internet de l'Inserm"> </a> </li> <li class="d-inline"> <a title="Link to the French Ministry of Health" href="//www.sante.gouv.fr/" target="_blank"> <img src="/build/images/partners/logo-sante_jeunesse_sports.png" alt="Link to the French Ministry of Health"> </a> </li> <li class="d-inline"> <a title="Link to CEE website" href="//health.ec.europa.eu/rare-diseases-and-european-reference-networks/rare-diseases_en" target="_blank"> <img src="/build/images/partners/logo-CEE_RDPortal.jpg" alt="Link to CEE website"> </a> </li> </ul> <ul class="list-unstyled d-inline-flex col-12 col-lg-6 flex-wrap justify-content-evenly align-items-center"> <li class="d-inline"> <a title="Site Internet de l'AFM" href="//www.afm-telethon.fr" target="_blank"> <img src="/build/images/partners/logo-AFM.jpg" alt="Site Internet de l'AFM"> </a> </li> <li class="d-inline"> <a title="Site Internet de Groupama" href="//www.fondation-groupama.com" target="_blank"> <img style="width:105px;" src="/build/images/partners/groupama.jpg" alt="Site Internet de Groupama"></a> </li> <li class="d-inline"> <a title="Institut fran莽ais de Bioinformatique" href="//www.france-bioinformatique.fr/?q=fr/orphanet" target="_blank"> <img src="/build/images/partners/Institut-Francais-de-Bioinformatique-IFB-petit.png" alt="Institut fran莽ais de Bioinformatique"> </a> </li> </ul> <h3 class="fs-5 text-center orpha-blue fw-bold">Orphanet is recognised as/by</h3> <div class="row col-lg-10 mx-auto my-4"> <ul class="list-unstyled d-inline-flex col-12 flex-wrap justify-content-center align-items-center"> <li class="d-inline me-4"> <a title="information sur le label IRDiRC" href="//www.irdirc.org/activities/irdirc-recognized-resources/" target="_blank"> <img src="/build/images/partners/IRDIRC_logo3-Recomm-Recogn.jpg" alt="information sur le label IRDiRC"> </a> </li> <li class="d-inline me-4"> <a title="HVP Logo" > <img src="/build/images/partners/HVP_Logo.png" alt="HVP Logo"> </a> </li> <li class="d-inline"> <a title="GA4GH Logo" href="//www.ga4gh.org/" target="_blank"> <img src="/build/images/partners/GA_logo_100px.png" alt="GA4GH Logo"> </a> </li> </ul> </div> <h3 class="fs-5 text-center orpha-blue fw-bold">Orphadata Science is recognised as</h3> <div class="row col-lg-10 mx-auto my-4"> <ul class="list-unstyled d-inline-flex col-12 flex-wrap justify-content-center align-items-center"> <li class="d-inline me-4"> <a title="ELIXIR Core Resource Logo" href="//www.elixir-europe.org/platforms/data/core-data-resources" target="_blank"> <img src="/build/images/partners/Logo_CDR-mini.png" alt="ELIXIR Core Resource Logo"> </a> </li> <li class="d-inline"> <a title="Site Internet de globalbiodata" href="https://globalbiodata.org/what-we-do/global-core-biodata-resources/" target="_blank"> <img src="/build/images/partners/gcbr-logo.jpg" alt="Site Internet de globalbiodata"> </a> </li> </ul> </div> </div> </section> <div class="row fs-8 col-lg-7 mx-auto pb-4 pt-2 d-print-none"> <div class="col-10 offset-1 p-0 offset-lg-0 col-sm-6 col-lg-4"> <p>Our Website does not host any form of advertising<br>Our partnerships do not influence our editorial policy</p> <p> 漏 everythingpossible / Fotolia <br> 漏 Orphanet version 1.0.27 - 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