1044 lines
No EOL
118 KiB
HTML
1044 lines
No EOL
118 KiB
HTML
<?xml version="1.0" encoding="utf-8"?>
|
||
<!DOCTYPE html PUBLIC "-//W3C//DTD XHTML 1.0 Transitional//EN" "http://www.w3.org/TR/xhtml1/DTD/xhtml1-transitional.dtd">
|
||
<html xmlns="http://www.w3.org/1999/xhtml" lang="en" xml:lang="en">
|
||
<head xmlns:xi="http://www.w3.org/2001/XInclude"><meta http-equiv="Content-Type" content="text/html; charset=utf-8" />
|
||
<!-- meta -->
|
||
<meta name="keywords" content="C3277286, carbamazepine hypersensitivity, finding, hla-b, hypersensitivity syndrome, carbamazepine-induced, susceptibility to, tegretol hypersensitivity, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Carbamazepine is an aromatic anticonvulsant used to treat epilepsy and other seizure disorders, as well as bipolar disorder and trigeminal neuralgia. Carbamazepine can cause a variety of cutaneous adverse reactions, ranging from mild maculopapular eruptions to Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). The genetic variant HLA-B*15:02 is associated with the risk of SJS/TEN. Patients who have at least one copy of the HLA-B*15:02 allele (considered HLA-B*15:02-positive) have a significantly increased risk for SJS/TEN compared to non-carriers, and it is recommended that they receive an alternate drug. It is important to note that it is possible for a patient without HLA-B*15:02 to develop SJS/TEN. Guidelines regarding the use of pharmacogenomic tests in dosing for carbamazepine have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website." /><meta name="robots" content="index,nofollow,noarchive" />
|
||
<meta name="ncbi_app" content="entrez" /><meta name="ncbi_db" content="medgen" /><meta name="ncbi_term" content="c3277286[conceptid]" /><meta name="ncbi_report" content="fullreport" /><meta name="ncbi_format" content="html" /><meta name="ncbi_pagesize" content="20" /><meta name="ncbi_sortorder" content="default" /><meta name="ncbi_pageno" content="1" /><meta name="ncbi_resultcount" content="1" /><meta name="ncbi_op" content="search" /><meta name="ncbi_pdid" content="fullreport" /><meta name="ncbi_sessionid" content="CE8B5AF87C7FFCB1_0191SID" /><meta name="ncbi_filter" content="clinical" /><meta name="ncbi_stat" content="false" /><meta name="ncbi_hitstat" content="false" />
|
||
|
||
|
||
<!-- title -->
|
||
<title>Carbamazepine hypersensitivity (Concept Id: C3277286)
|
||
- MedGen - NCBI</title>
|
||
|
||
<!-- Common JS and CSS -->
|
||
|
||
<script type="text/javascript">
|
||
var ncbi_startTime = new Date();
|
||
</script>
|
||
<script type="text/javascript" src="https://static.pubmed.gov/core/jig/1.15.10/js/jig.min.js"></script>
|
||
|
||
<link xmlns="http://www.w3.org/1999/xhtml" type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4218191/css/4207974/4206132.css" xml:base="http://127.0.0.1/sites/static/header_footer/" />
|
||
<link rel="shortcut icon" href="//www.ncbi.nlm.nih.gov/favicon.ico" /><meta name="ncbi_phid" content="CE8EDE297CD11C5100000000009B007C.m_29" /><script type="text/javascript"><!--
|
||
var ScriptPath = '/portal/';
|
||
var objHierarchy = {"name":"EntrezSystem2","type":"Layout","realname":"EntrezSystem2",
|
||
"children":[{"name":"EntrezSystem2.PEntrez","type":"Cluster","realname":"EntrezSystem2.PEntrez",
|
||
"children":[{"name":"EntrezSystem2.PEntrez.DbConnector","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.DbConnector","shortname":"DbConnector"},
|
||
{"name":"EntrezSystem2.PEntrez.ParamContainer","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.ParamContainer","shortname":"ParamContainer"},
|
||
{"name":"EntrezSystem2.PEntrez.MyNcbi","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.MyNcbi","shortname":"MyNcbi"},
|
||
{"name":"EntrezSystem2.PEntrez.UserPreferenceUrlParamContainer","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.UserPreferenceUrlParamContainer","shortname":"UserPreferenceUrlParamContainer"},
|
||
{"name":"EntrezSystem2.PEntrez.GridProperty","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.GridProperty","shortname":"GridProperty"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen",
|
||
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.NoPortlet","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NoPortlet","shortname":"NoPortlet"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_PageController","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_PageController","shortname":"MedGen_PageController"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_SearchBar","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_SearchBar","shortname":"MedGen_SearchBar"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_BotRequest","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_BotRequest","shortname":"MedGen_BotRequest"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_LimitsTab","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_LimitsTab","shortname":"MedGen_LimitsTab"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.Entrez_Facets","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.Entrez_Facets","shortname":"Entrez_Facets"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.Entrez_Clipboard","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.Entrez_Clipboard","shortname":"Entrez_Clipboard"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_StaticParts","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_StaticParts","shortname":"MedGen_StaticParts"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.Entrez_Messages","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.Entrez_Messages","shortname":"Entrez_Messages"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.NcbiJSCheck","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NcbiJSCheck","shortname":"NcbiJSCheck"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic",
|
||
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.Footer_ExtraData","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.Footer_ExtraData","shortname":"Footer_ExtraData"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.NCBIFooter_dynamic","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.NCBIFooter_dynamic",
|
||
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIBreadcrumbs","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIBreadcrumbs","shortname":"NCBIBreadcrumbs"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIHelpDesk","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIHelpDesk","shortname":"NCBIHelpDesk"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIApplog_NoScript_Ping","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIApplog_NoScript_Ping","shortname":"NCBIApplog_NoScript_Ping"}]}]},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel",
|
||
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.blankToolPanel","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.blankToolPanel","shortname":"blankToolPanel"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController","shortname":"MedGen_ResultsController"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet","shortname":"MedGen_FiltersPortlet"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_Pager","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.Entrez_Pager","shortname":"Entrez_Pager"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar","shortname":"MedGen_DisplayBar"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HelpFormAttributes","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.HelpFormAttributes","shortname":"HelpFormAttributes"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_Collections","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.Entrez_Collections","shortname":"Entrez_Collections"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.SpellCheck","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.SpellCheck","shortname":"SpellCheck"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.SearchEngineReferralCheck","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.SearchEngineReferralCheck","shortname":"SearchEngineReferralCheck"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.WrongDbSensor","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.WrongDbSensor","shortname":"WrongDbSensor"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.KnowledgePanel","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.KnowledgePanel","shortname":"KnowledgePanel"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.HistoryDisplay","shortname":"HistoryDisplay"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Discovery_SearchDetails","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.Discovery_SearchDetails","shortname":"Discovery_SearchDetails"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.mg_GeneSensor","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.mg_GeneSensor","shortname":"mg_GeneSensor"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ClinFeatureSearch","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ClinFeatureSearch","shortname":"MedGen_ClinFeatureSearch"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVFull","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVFull","shortname":"MedGen_RVFull"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster",
|
||
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks","shortname":"MedGenDiscoveryDbLinks"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGen_SingleItemSupl","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGen_SingleItemSupl","shortname":"MedGen_SingleItemSupl"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews","shortname":"MedGenReviews"}]}]}]}]}]};
|
||
--></script>
|
||
<meta name='referrer' content='origin-when-cross-origin'/><link type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/css/3808861/3917732/3974050/3751656/3395415/4221762/14534/4062871/4186458/4075711/12930/4033350/4128070/3861632/4013176/4212357/4064428/4186491/9685/2279/3395586.css" /><link type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/css/3501913/1303451.css" media="print" /><script type="text/javascript">
|
||
|
||
var ObjectLinks=[{i:0, ename: "p$ExL", esid:"*", sname: "p$ExL", ssid:"*", dname:"p$el", dsid:"0",m:"CopyValue",p:[],f: function(src, dst) {fn_CopyValue(src, dst);}}]
|
||
|
||
|
||
var ActiveNames = {"p$ExL":1, "EntrezSystem2.PEntrez.DbConnector.Cmd":0, "EntrezSystem2.PEntrez.DbConnector.Db":0, "EntrezSystem2.PEntrez.DbConnector.IdsFromResult":0, "EntrezSystem2.PEntrez.DbConnector.LastDb":0, "EntrezSystem2.PEntrez.DbConnector.LastIdsFromResult":0, "EntrezSystem2.PEntrez.DbConnector.LastQueryKey":0, "EntrezSystem2.PEntrez.DbConnector.LastTabCmd":0, "EntrezSystem2.PEntrez.DbConnector.LinkName":0, "EntrezSystem2.PEntrez.DbConnector.LinkReadableName":0, "EntrezSystem2.PEntrez.DbConnector.LinkSrcDb":0, "EntrezSystem2.PEntrez.DbConnector.QueryKey":0, "EntrezSystem2.PEntrez.DbConnector.TabCmd":0, "EntrezSystem2.PEntrez.DbConnector.Term":0, "EntrezSystem2.PEntrez.MedGen.MedGen_PageController.PreviousPageName":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Display":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.FFormat":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.FileFormat":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Format":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastFormat":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastPageSize":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastPresentation":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PageSize":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Presentation":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevPageSize":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevPresentation":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevSort":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SetDisplay":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.sPresentation":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController.ResultCount":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController.RunLastQuery":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter":0};
|
||
</script></head>
|
||
<body>
|
||
<div class="grid">
|
||
<div class="col twelve_col nomargin shadow">
|
||
<form enctype="application/x-www-form-urlencoded" name="EntrezForm" method="post" onsubmit="return false;" action="/medgen" id="EntrezForm">
|
||
<div xmlns:xi="http://www.w3.org/2001/XInclude">
|
||
<!-- no javascript message -->
|
||
<noscript>
|
||
<p class="nojs">
|
||
<strong>Warning:</strong>
|
||
The NCBI web site requires JavaScript to function.
|
||
<a href="/guide/browsers/#enablejs" title="Learn how to enable JavaScript" target="_blank">more...</a>
|
||
</p>
|
||
</noscript>
|
||
|
||
<div xmlns="http://www.w3.org/1999/xhtml" id="universal_header" xml:base="http://127.0.0.1/sites/static/header_footer/">
|
||
<section class="usa-banner">
|
||
<div class="usa-accordion">
|
||
<header class="usa-banner-header">
|
||
<div class="usa-grid usa-banner-inner">
|
||
<img src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/favicons/favicon-57.png" alt="U.S. flag" />
|
||
<p>An official website of the United States government</p>
|
||
<button class="non-usa-accordion-button usa-banner-button" aria-expanded="false" aria-controls="gov-banner-top" type="button">
|
||
<span class="usa-banner-button-text">Here's how you know</span>
|
||
</button>
|
||
</div>
|
||
</header>
|
||
<div class="usa-banner-content usa-grid usa-accordion-content" id="gov-banner-top" aria-hidden="true">
|
||
<div class="usa-banner-guidance-gov usa-width-one-half">
|
||
<img class="usa-banner-icon usa-media_block-img" src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-dot-gov.svg" alt="Dot gov" />
|
||
<div class="usa-media_block-body">
|
||
<p>
|
||
<strong>The .gov means it's official.</strong>
|
||
<br />
|
||
Federal government websites often end in .gov or .mil. Before
|
||
sharing sensitive information, make sure you're on a federal
|
||
government site.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
<div class="usa-banner-guidance-ssl usa-width-one-half">
|
||
<img class="usa-banner-icon usa-media_block-img" src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-https.svg" alt="Https" />
|
||
<div class="usa-media_block-body">
|
||
<p>
|
||
<strong>The site is secure.</strong>
|
||
<br />
|
||
The <strong>https://</strong> ensures that you are connecting to the
|
||
official website and that any information you provide is encrypted
|
||
and transmitted securely.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
<div class="usa-overlay"></div>
|
||
<header class="ncbi-header" role="banner" data-section="Header">
|
||
|
||
<div class="usa-grid">
|
||
<div class="usa-width-one-whole">
|
||
|
||
<div class="ncbi-header__logo">
|
||
<a href="/" class="logo" aria-label="NCBI Logo" data-ga-action="click_image" data-ga-label="NIH NLM Logo">
|
||
<img src="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/logos/AgencyLogo.svg" alt="NIH NLM Logo" />
|
||
</a>
|
||
</div>
|
||
|
||
<div class="ncbi-header__account">
|
||
<a id="account_login" href="https://account.ncbi.nlm.nih.gov" class="usa-button header-button" style="display:none" data-ga-action="open_menu" data-ga-label="account_menu">Log in</a>
|
||
<button id="account_info" class="header-button" style="display:none" aria-controls="account_popup" type="button">
|
||
<span class="fa fa-user" aria-hidden="true">
|
||
<svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 24 24" width="20px" height="20px">
|
||
<g style="fill: #fff">
|
||
<ellipse cx="12" cy="8" rx="5" ry="6"></ellipse>
|
||
<path d="M21.8,19.1c-0.9-1.8-2.6-3.3-4.8-4.2c-0.6-0.2-1.3-0.2-1.8,0.1c-1,0.6-2,0.9-3.2,0.9s-2.2-0.3-3.2-0.9 C8.3,14.8,7.6,14.7,7,15c-2.2,0.9-3.9,2.4-4.8,4.2C1.5,20.5,2.6,22,4.1,22h15.8C21.4,22,22.5,20.5,21.8,19.1z"></path>
|
||
</g>
|
||
</svg>
|
||
</span>
|
||
<span class="username desktop-only" aria-hidden="true" id="uname_short"></span>
|
||
<span class="sr-only">Show account info</span>
|
||
</button>
|
||
</div>
|
||
|
||
<div class="ncbi-popup-anchor">
|
||
<div class="ncbi-popup account-popup" id="account_popup" aria-hidden="true">
|
||
<div class="ncbi-popup-head">
|
||
<button class="ncbi-close-button" data-ga-action="close_menu" data-ga-label="account_menu" type="button">
|
||
<span class="fa fa-times">
|
||
<svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 48 48" width="24px" height="24px">
|
||
<path d="M38 12.83l-2.83-2.83-11.17 11.17-11.17-11.17-2.83 2.83 11.17 11.17-11.17 11.17 2.83 2.83 11.17-11.17 11.17 11.17 2.83-2.83-11.17-11.17z"></path>
|
||
</svg>
|
||
</span>
|
||
<span class="usa-sr-only">Close</span></button>
|
||
<h4>Account</h4>
|
||
</div>
|
||
<div class="account-user-info">
|
||
Logged in as:<br />
|
||
<b><span class="username" id="uname_long">username</span></b>
|
||
</div>
|
||
<div class="account-links">
|
||
<ul class="usa-unstyled-list">
|
||
<li><a id="account_myncbi" href="/myncbi/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_myncbi">Dashboard</a></li>
|
||
<li><a id="account_pubs" href="/myncbi/collections/bibliography/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_pubs">Publications</a></li>
|
||
<li><a id="account_settings" href="/account/settings/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_settings">Account settings</a></li>
|
||
<li><a id="account_logout" href="/account/signout/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_logout">Log out</a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</header>
|
||
<div role="navigation" aria-label="access keys">
|
||
<a id="nws_header_accesskey_0" href="https://www.ncbi.nlm.nih.gov/guide/browsers/#ncbi_accesskeys" class="usa-sr-only" accesskey="0" tabindex="-1">Access keys</a>
|
||
<a id="nws_header_accesskey_1" href="https://www.ncbi.nlm.nih.gov" class="usa-sr-only" accesskey="1" tabindex="-1">NCBI Homepage</a>
|
||
<a id="nws_header_accesskey_2" href="/myncbi/" class="set-base-url usa-sr-only" accesskey="2" tabindex="-1">MyNCBI Homepage</a>
|
||
<a id="nws_header_accesskey_3" href="#maincontent" class="usa-sr-only" accesskey="3" tabindex="-1">Main Content</a>
|
||
<a id="nws_header_accesskey_4" href="#" class="usa-sr-only" accesskey="4" tabindex="-1">Main Navigation</a>
|
||
</div>
|
||
<section data-section="Alerts">
|
||
<div class="ncbi-alerts-placeholder"></div>
|
||
</section>
|
||
</div>
|
||
|
||
<div class="header">
|
||
<!-- logo -->
|
||
<div class="res_logo" id="gene-top">
|
||
<h1 class="res_name"><a href="/medgen">MedGen</a></h1>
|
||
<h2 class="res_tagline">National Center for Biotechnology Information</h2>
|
||
</div>
|
||
<!-- SearchBar -->
|
||
<div class="search"><div class="search_form"><label for="database" class="offscreen_noflow">Search database</label><select id="database"><optgroup label="Recent"><option value="medgen" selected="selected" data-ac_dict="medgen_disease_name">MedGen</option><option value="clinvar">ClinVar</option><option value="pubmed" data-ac_dict="pm_related_queries_2">PubMed</option><option value="books" class="last">Books</option></optgroup><optgroup label="All"><option value="gquery">All Databases</option><option value="assembly">Assembly</option><option value="biocollections">Biocollections</option><option value="bioproject">BioProject</option><option value="biosample">BioSample</option><option value="books">Books</option><option value="clinvar">ClinVar</option><option value="cdd">Conserved Domains</option><option value="gap">dbGaP</option><option value="dbvar">dbVar</option><option value="gene">Gene</option><option value="genome">Genome</option><option value="gds">GEO DataSets</option><option value="geoprofiles">GEO Profiles</option><option value="gtr">GTR</option><option value="ipg">Identical Protein Groups</option><option value="medgen" data-ac_dict="medgen_disease_name">MedGen</option><option value="mesh" data-ac_dict="mesh_suggestions">MeSH</option><option value="nlmcatalog">NLM Catalog</option><option value="nuccore">Nucleotide</option><option value="omim">OMIM</option><option value="pmc">PMC</option><option value="protein">Protein</option><option value="proteinclusters">Protein Clusters</option><option value="protfam">Protein Family Models</option><option value="pcassay">PubChem BioAssay</option><option value="pccompound">PubChem Compound</option><option value="pcsubstance">PubChem Substance</option><option value="pubmed" data-ac_dict="pm_related_queries_2">PubMed</option><option value="snp">SNP</option><option value="sra">SRA</option><option value="structure">Structure</option><option value="taxonomy">Taxonomy</option><option value="toolkit">ToolKit</option><option value="toolkitall">ToolKitAll</option><option value="toolkitbookgh">ToolKitBookgh</option></optgroup></select><div class="nowrap"><label for="term" class="offscreen_noflow" accesskey="/">Search term</label><div class="nowrap"><input type="text" name="term" id="term" title="Search MedGen. Use up and down arrows to choose an item from the autocomplete." value="" class="jig-ncbiclearbutton jig-ncbiautocomplete" data-jigconfig="dictionary:'medgen_disease_name',disableUrl:'NcbiSearchBarAutoComplCtrl'" autocomplete="off" data-sbconfig="ds:'no',pjs:'yes',afs:'yes'" /></div><button id="search" type="submit" class="button_search nowrap" cmd="go">Search</button></div></div><ul class="searchlinks inline_list"><set></set><li><a name="SaveSearch" title="Click to create an email alert for this search" href="/sites/myncbi/searches/save?db=medgen&qk=37512" id="SaveSearch">Create alert</a></li><li><a sid="1" href="/medgen/limits">Limits</a></li><li><a href="/medgen/advanced">Advanced</a></li><li class="help"><a id="help" class="jig-ncbihelpwindow" target="ncbihelp" name="help" href="/medgen/docs/help">Help</a></li></ul></div>
|
||
</div>
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_PageController.PreviousPageName" sid="1" type="hidden" value="results" />
|
||
<div id="maincontent" class="col nine_col">
|
||
<div class="content">
|
||
<div>
|
||
|
||
|
||
</div>
|
||
<div class="results_settings one_setting"><ul class="inline_list left display_settings"><li><a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Display" sid="0" href="#" class="jig-ncbipopper" data-jigconfig="triggerPosition : 'bottom center',destPosition : 'top center',destSelector : '#display_settings_menu_report', hasArrow : false,openEvent : 'click',closeEvent : 'click',isTriggerElementCloseClick: false,addCloseButton : false, groupName: 'entrez_pg'" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Display">Full Report<span href="#" class="tgt_dark"></span></a></li></ul><div id="display_settings_menu_report" class="disp_settings tabPopper"><fieldset class="format"><legend>Format</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.sPresentation" sid="1" value="FullReport" format="" id="FullReport" checked="true" /><label for="FullReport">Full Report</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.sPresentation" sid="2" value="FullReport" format="text" id="FullReporttext" /><label for="FullReporttext">Summary (Text)</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.sPresentation" sid="3" value="XML" format="text" id="XMLtext" /><label for="XMLtext">Summary (XML)</label></li></ul></fieldset></div><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SetDisplay" sid="1" class="button_apply ncbipopper-close-button" style="display:none">Apply</button><h4 class="content_header send_to align_right jig-ncbipopper" id="sendto" data-jigconfig="triggerPosition:'bottom center', destPosition : 'top center',destSelector : '#send_to_menu', hasArrow : false, openEvent : 'click',closeEvent : 'click', isTriggerElementCloseClick: false, addCloseButton:true, groupName: 'entrez_pg', adjustFit:'none'"><a href="#" sourceContent="send_to_menu" class="tgt_dark">Send to:</a><script type="text/javascript">
|
||
jQuery(document).ready( function () {
|
||
jQuery("#send_to_menu input[type='radio']").click( function () {
|
||
var selectedValue = jQuery(this).val().toLowerCase();
|
||
var selectedDiv = jQuery("#send_to_menu div." + selectedValue);
|
||
|
||
if(selectedDiv.is(":hidden")){
|
||
jQuery("#send_to_menu div.submenu:visible").slideUp();
|
||
selectedDiv.slideDown();
|
||
}
|
||
});
|
||
|
||
});
|
||
|
||
jQuery("#sendto").bind("ncbipopperclose", function(){
|
||
jQuery("#send_to_menu div.submenu:visible").css("display","none");
|
||
jQuery("#send_to_menu input[type='radio']:checked").attr("checked",false);
|
||
});
|
||
|
||
</script></h4><div id="send_to_menu" class="tabPopper send_to"><fieldset><legend>Choose Destination</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo" sid="1" value="File" id="dest_File" /><label for="dest_File">File</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo" sid="2" value="AddToClipboard" id="dest_AddToClipboard" /><label for="dest_AddToClipboard">Clipboard</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo" sid="3" value="AddToCollections" id="dest_AddToCollections" /><label for="dest_AddToCollections">Collections</label></li></ul></fieldset><div class="submenu file" id="submenu_File" style="display: none;"><p id="submenu_File_hint" class="hidden"></p><ul><li><label for="file_format">Format</label><select id="file_format" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.FFormat" sid="1"><option value="FullReport" format="text" selected="selected">Summary (Text)</option><option value="XML" format="text">Summary (XML)</option></select></li></ul><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit" sid="1" class="button_apply file ncbipopper-close-button" type="submit" cmd="File">Create File</button></div><div class="submenu addtoclipboard" id="submenu_AddToClipboard" style="display: none;"><p id="submenu_AddToClipboard_hint" class="hidden"></p><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit" sid="2" class="button_apply clipboard ncbipopper-close-button" type="submit" cmd="AddToClipboard">Add to Clipboard</button></div><div class="submenu addtocollections" id="submenu_AddToCollections" style="display: none;"><p id="submenu_AddToCollections_hint" class="hidden"></p><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit" sid="3" class="button_apply collections ncbipopper-close-button" type="submit" cmd="AddToCollections">Add to Collections</button></div></div><div><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.FileFormat" sid="1" type="hidden" value="FullReport" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastPresentation" sid="1" type="hidden" value="FullReport" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Presentation" sid="1" type="hidden" value="FullReport" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastPageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Format" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastFormat" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevPageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevPresentation" sid="1" type="hidden" value="FullReport" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevSort" sid="1" type="hidden" value="" /><input type="hidden" id="coll_startindex" name="CollectionStartIndex" value="1" /></div></div>
|
||
<div class="">
|
||
<div><span id="result_sel" class="nowrap"></span><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController.ResultCount" sid="1" type="hidden" id="resultcount" value="1" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController.RunLastQuery" sid="1" type="hidden" /></div>
|
||
|
||
</div>
|
||
<div id="messagearea" class="empty">
|
||
|
||
|
||
|
||
</div>
|
||
<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
|
||
<!--
|
||
UID=478916
|
||
ConceptID=C3277286
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Carbamazepine hypersensitivity</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>478916</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C3277286</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Hypersensitivity syndrome, carbamazepine-induced, susceptibility to; Tegretol hypersensitivity</td></tr>
|
||
<tr><td>Drug:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="drug_745"><div><strong>Carbamazepine</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>745</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0006949</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pharmacologic Substance</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tricyclic compound chemically related to tricyclic antidepressants (TCA) with anticonvulsant and analgesic properties. Carbamazepine exerts its anticonvulsant activity by reducing polysynaptic responses and blocking post-tetanic potentiation. Its analgesic activity is not understood; however, carbamazepine is commonly used to treat pain associated with trigeminal neuralgia. [from NCI]</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#drug_745" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carbamazepine</a></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="HLA-B - ID: 3106 - NCBI Gene" href="/gene/3106" class="medgenPMinfo">HLA-B</a> (6p21.33)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/142800" target="_blank">142800</a>; <a href="https://omim.org/entry/608579" target="_blank">608579</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Carbamazepine is an aromatic anticonvulsant used to treat epilepsy and other seizure disorders, as well as bipolar disorder and trigeminal neuralgia. Carbamazepine can cause a variety of cutaneous adverse reactions, ranging from mild maculopapular eruptions to Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). The genetic variant HLA-B*15:02 is associated with the risk of SJS/TEN. Patients who have at least one copy of the HLA-B*15:02 allele (considered HLA-B*15:02-positive) have a significantly increased risk for SJS/TEN compared to non-carriers, and it is recommended that they receive an alternate drug. It is important to note that it is possible for a patient without HLA-B*15:02 to develop SJS/TEN. Guidelines regarding the use of pharmacogenomic tests in dosing for carbamazepine have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website. [from <a title="The Pharmacogenomics Knowledge Base" href="http://www.pharmgkb.org" class="defSource" target="_blank">PharmGKB</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From Medical Genetics Summaries</strong><br />Carbamazepine is an antiseizure drug used in the treatment of epilepsy. It is also used to relieve pain in trigeminal neuralgia and is used to treat bipolar disorder. The human leukocyte antigens A and B (HLA-A and HLA-B) play an important role in how the immune system recognizes and responds to pathogens. HLA-A and -B belong to a class of molecules that are found on the surface of most cells. These molecules are responsible for presenting peptides to immune cells. Peptides derived from normal human proteins are recognized as such, whereas foreign peptides derived from pathogens trigger an immune response whose goal is to dispose of the pathogen or foreign body. The genes encoding HLA-A and -B are among the most polymorphic genes in the human genome, and certain variant alleles can influence an individual’s response to medication. HLA-B*15:02 is a variant allele that occurs most commonly in individuals of Southeast Asian descent. Carriers of HLA-B*15:02 are at a high risk of developing Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN), a severe, and sometimes fatal, cutaneous hypersensitivity reaction, while taking carbamazepine. Individuals most likely to carry HLA-B*15:02 are those of Han Chinese descent, followed by those in Vietnam, Cambodia, the Reunion Islands, Thailand, India (specifically Hindus), Malaysia, and Hong Kong. Another HLA variant, HLA-A*31:01, which is present more globally, may also be a risk factor for other carbamazepine-induced hypersensitivity reactions, such as drug-induced hypersensitivity syndrome (HSS) or maculopapular exanthema (MPE). The FDA recommends that patients with ancestry in genetically at-risk populations should be screened for the presence of HLA-B*15:02 prior to initiating treatment with carbamazepine. Patients testing positive for the allele should not be treated with carbamazepine unless the benefit clearly outweighs the risk. The Clinical Pharmacogenetics Implementation Consortium (CPIC) cautions that many people may be unaware of, or fail to disclose, more distant Asian ancestry in their families, a fact that the healthcare professional needs to be aware of. CPIC also points out that both children and adults are at risk. <a target="_blank" href="https://www.ncbi.nlm.nih.gov/books/NBK321445">https://www.ncbi.nlm.nih.gov/books/NBK321445</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33217013">Evaluation of clinical and genetic factors in the population pharmacokinetics of carbamazepine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yip VLM,
|
||
Pertinez H,
|
||
Meng X,
|
||
Maggs JL,
|
||
Carr DF,
|
||
Park BK,
|
||
Marson AG,
|
||
Pirmohamed M</span><br />
|
||
<span class="medgenPMjournal">Br J Clin Pharmacol</span>
|
||
2021 Jun;87(6):2572-2588.
|
||
Epub 2020 Dec 14
|
||
doi: 10.1111/bcp.14667.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33217013" target="_blank">33217013</a><a href="/pmc/articles/PMC8247401" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21917426">Carbamazepine-induced severe cutaneous adverse reactions and HLA genotypes in Koreans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim SH,
|
||
Lee KW,
|
||
Song WJ,
|
||
Kim SH,
|
||
Jee YK,
|
||
Lee SM,
|
||
Kang HR,
|
||
Park HW,
|
||
Cho SH,
|
||
Park SH,
|
||
Min KU,
|
||
Chang YS;
|
||
Adverse Drug Reaction Research Group in Korea</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2011 Nov;97(1-2):190-7.
|
||
Epub 2011 Sep 13
|
||
doi: 10.1016/j.eplepsyres.2011.08.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21917426" target="_blank">21917426</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9430314">Oxcarbazepine in the treatment of early childhood epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gaily E,
|
||
Granström ML,
|
||
Liukkonen E</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
1997 Nov;12(8):496-8.
|
||
doi: 10.1177/088307389701200806.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9430314" target="_blank">9430314</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22carbamazepine%20hypersensitivity%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (3)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=7a1e523a-b377-43dc-b231-7591c4c888ea" target="_blank">DailyMed Drug Label, CARBAMAZEPINE, 2022</a></h3>
|
||
</div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28891449">Role of Pharmacogenomics in Antiepileptic Drug Therapy: Current Status and Future Perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gambardella A,
|
||
Labate A,
|
||
Mumoli L,
|
||
Lopes-Cendes I,
|
||
Cendes F</span><br />
|
||
<span class="medgenPMjournal">Curr Pharm Des</span>
|
||
2017;23(37):5760-5765.
|
||
doi: 10.2174/1381612823666170911111536.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28891449" target="_blank">28891449</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16815161">Activation of T cells by carbamazepine and carbamazepine metabolites.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu Y,
|
||
Sanderson JP,
|
||
Farrell J,
|
||
Drummond NS,
|
||
Hanson A,
|
||
Bowkett E,
|
||
Berry N,
|
||
Stachulski AV,
|
||
Clarke SE,
|
||
Pichler WJ,
|
||
Pirmohamed M,
|
||
Park BK,
|
||
Naisbitt DJ</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2006 Jul;118(1):233-41.
|
||
Epub 2006 Apr 27
|
||
doi: 10.1016/j.jaci.2006.03.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16815161" target="_blank">16815161</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12926190">Anticonvulsant drug hypersensitivity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galindo PA,
|
||
Borja J,
|
||
Gómez E,
|
||
Mur P,
|
||
Gudín M,
|
||
García R,
|
||
Encinas C,
|
||
Romero G,
|
||
Garrido JA,
|
||
Cortina P,
|
||
Feo F</span><br />
|
||
<span class="medgenPMjournal">J Investig Allergol Clin Immunol</span>
|
||
2002;12(4):299-304.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12926190" target="_blank">12926190</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7760721">Carbamazepine hypersensitivity syndrome: report of 4 cases and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Vriese AS,
|
||
Philippe J,
|
||
Van Renterghem DM,
|
||
De Cuyper CA,
|
||
Hindryckx PH,
|
||
Matthys EG,
|
||
Louagie A</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
1995 May;74(3):144-51.
|
||
doi: 10.1097/00005792-199505000-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7760721" target="_blank">7760721</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1768568">Carbamazepine-hypersensitivity: assessment of clinical and in vitro chemical cross-reactivity with phenytoin and oxcarbazepine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pirmohamed M,
|
||
Graham A,
|
||
Roberts P,
|
||
Smith D,
|
||
Chadwick D,
|
||
Breckenridge AM,
|
||
Park BK</span><br />
|
||
<span class="medgenPMjournal">Br J Clin Pharmacol</span>
|
||
1991 Dec;32(6):741-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1768568" target="_blank">1768568</a><a href="/pmc/articles/PMC1368556" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Carbamazepine%20hypersensitivity%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (13)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24777842">Genetics of immune-mediated adverse drug reactions: a comprehensive and clinical review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yip VL,
|
||
Alfirevic A,
|
||
Pirmohamed M</span><br />
|
||
<span class="medgenPMjournal">Clin Rev Allergy Immunol</span>
|
||
2015 Jun;48(2-3):165-75.
|
||
doi: 10.1007/s12016-014-8418-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24777842" target="_blank">24777842</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12926190">Anticonvulsant drug hypersensitivity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galindo PA,
|
||
Borja J,
|
||
Gómez E,
|
||
Mur P,
|
||
Gudín M,
|
||
García R,
|
||
Encinas C,
|
||
Romero G,
|
||
Garrido JA,
|
||
Cortina P,
|
||
Feo F</span><br />
|
||
<span class="medgenPMjournal">J Investig Allergol Clin Immunol</span>
|
||
2002;12(4):299-304.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12926190" target="_blank">12926190</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10355812">Carbamazepine hypersensitivity and the use of lymphocyte proliferation responses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown KL,
|
||
Henderson DC,
|
||
Nadel S,
|
||
Tanveer A,
|
||
Booy R</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
1999 Apr;41(4):267-9.
|
||
doi: 10.1017/s0012162299000560.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10355812" target="_blank">10355812</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8131807">Carbamazepine hypersensitivity and rickettsiosis mimicking Kawasaki disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parha S,
|
||
Garoufi A,
|
||
Yiallouros P,
|
||
Theodoridis C,
|
||
Karpathios T</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
1993 Dec;152(12):1040-1.
|
||
doi: 10.1007/BF01957233.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8131807" target="_blank">8131807</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1828383">Carbamazepine hypersensitivity reaction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rivey MP,
|
||
Stone JD</span><br />
|
||
<span class="medgenPMjournal">Brain Inj</span>
|
||
1991 Jan-Mar;5(1):57-62.
|
||
doi: 10.3109/02699059108998512.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1828383" target="_blank">1828383</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Carbamazepine%20hypersensitivity%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (20)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21647201">Epilepsy: HLA alleles linked to carbamazepine hypersensitivity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Striano P,
|
||
Zara F</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Neurol</span>
|
||
2011 Jun 7;7(7):365-6.
|
||
doi: 10.1038/nrneurol.2011.90.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21647201" target="_blank">21647201</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10621883">Concordance of primary generalised epilepsy and carbamazepine hypersensitivity in monozygotic twins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Edwards SG,
|
||
Hubbard V,
|
||
Aylett S,
|
||
Wren D</span><br />
|
||
<span class="medgenPMjournal">Postgrad Med J</span>
|
||
1999 Nov;75(889):680-1.
|
||
doi: 10.1136/pgmj.75.889.680.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10621883" target="_blank">10621883</a><a href="/pmc/articles/PMC1741403" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10355812">Carbamazepine hypersensitivity and the use of lymphocyte proliferation responses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown KL,
|
||
Henderson DC,
|
||
Nadel S,
|
||
Tanveer A,
|
||
Booy R</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
1999 Apr;41(4):267-9.
|
||
doi: 10.1017/s0012162299000560.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10355812" target="_blank">10355812</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8131807">Carbamazepine hypersensitivity and rickettsiosis mimicking Kawasaki disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parha S,
|
||
Garoufi A,
|
||
Yiallouros P,
|
||
Theodoridis C,
|
||
Karpathios T</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
1993 Dec;152(12):1040-1.
|
||
doi: 10.1007/BF01957233.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8131807" target="_blank">8131807</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1828383">Carbamazepine hypersensitivity reaction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rivey MP,
|
||
Stone JD</span><br />
|
||
<span class="medgenPMjournal">Brain Inj</span>
|
||
1991 Jan-Mar;5(1):57-62.
|
||
doi: 10.3109/02699059108998512.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1828383" target="_blank">1828383</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Carbamazepine%20hypersensitivity%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (33)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36899812">HLA-B*57:01/Carbamazepine-10,11-Epoxide Association Triggers Upregulation of the NFκB and JAK/STAT Pathways.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haukamp FJ,
|
||
Hartmann ZM,
|
||
Pich A,
|
||
Kuhn J,
|
||
Blasczyk R,
|
||
Stieglitz F,
|
||
Bade-Döding C</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2023 Feb 21;12(5)
|
||
doi: 10.3390/cells12050676.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36899812" target="_blank">36899812</a><a href="/pmc/articles/PMC10000580" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23588310">HLA-A 31:01 and HLA-B 15:02 as genetic markers for carbamazepine hypersensitivity in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amstutz U,
|
||
Ross CJ,
|
||
Castro-Pastrana LI,
|
||
Rieder MJ,
|
||
Shear NH,
|
||
Hayden MR,
|
||
Carleton BC;
|
||
CPNDS Consortium</span><br />
|
||
<span class="medgenPMjournal">Clin Pharmacol Ther</span>
|
||
2013 Jul;94(1):142-9.
|
||
Epub 2013 Mar 18
|
||
doi: 10.1038/clpt.2013.55.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23588310" target="_blank">23588310</a><a href="/pmc/articles/PMC3839910" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21917426">Carbamazepine-induced severe cutaneous adverse reactions and HLA genotypes in Koreans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim SH,
|
||
Lee KW,
|
||
Song WJ,
|
||
Kim SH,
|
||
Jee YK,
|
||
Lee SM,
|
||
Kang HR,
|
||
Park HW,
|
||
Cho SH,
|
||
Park SH,
|
||
Min KU,
|
||
Chang YS;
|
||
Adverse Drug Reaction Research Group in Korea</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2011 Nov;97(1-2):190-7.
|
||
Epub 2011 Sep 13
|
||
doi: 10.1016/j.eplepsyres.2011.08.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21917426" target="_blank">21917426</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18991696">Pharmacogenetic determinants of immediate and delayed reactions of drug hypersensitivity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guéant JL,
|
||
Guéant-Rodriguez RM,
|
||
Gastin IA,
|
||
Cornejo-García JA,
|
||
Viola M,
|
||
Barbaud A,
|
||
Mertes PM,
|
||
Blanca M,
|
||
Romano A</span><br />
|
||
<span class="medgenPMjournal">Curr Pharm Des</span>
|
||
2008;14(27):2770-7.
|
||
doi: 10.2174/138161208786369795.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18991696" target="_blank">18991696</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12926190">Anticonvulsant drug hypersensitivity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galindo PA,
|
||
Borja J,
|
||
Gómez E,
|
||
Mur P,
|
||
Gudín M,
|
||
García R,
|
||
Encinas C,
|
||
Romero G,
|
||
Garrido JA,
|
||
Cortina P,
|
||
Feo F</span><br />
|
||
<span class="medgenPMjournal">J Investig Allergol Clin Immunol</span>
|
||
2002;12(4):299-304.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12926190" target="_blank">12926190</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Carbamazepine%20hypersensitivity%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (10)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36899812">HLA-B*57:01/Carbamazepine-10,11-Epoxide Association Triggers Upregulation of the NFκB and JAK/STAT Pathways.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haukamp FJ,
|
||
Hartmann ZM,
|
||
Pich A,
|
||
Kuhn J,
|
||
Blasczyk R,
|
||
Stieglitz F,
|
||
Bade-Döding C</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2023 Feb 21;12(5)
|
||
doi: 10.3390/cells12050676.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36899812" target="_blank">36899812</a><a href="/pmc/articles/PMC10000580" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33217013">Evaluation of clinical and genetic factors in the population pharmacokinetics of carbamazepine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yip VLM,
|
||
Pertinez H,
|
||
Meng X,
|
||
Maggs JL,
|
||
Carr DF,
|
||
Park BK,
|
||
Marson AG,
|
||
Pirmohamed M</span><br />
|
||
<span class="medgenPMjournal">Br J Clin Pharmacol</span>
|
||
2021 Jun;87(6):2572-2588.
|
||
Epub 2020 Dec 14
|
||
doi: 10.1111/bcp.14667.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33217013" target="_blank">33217013</a><a href="/pmc/articles/PMC8247401" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23588310">HLA-A 31:01 and HLA-B 15:02 as genetic markers for carbamazepine hypersensitivity in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amstutz U,
|
||
Ross CJ,
|
||
Castro-Pastrana LI,
|
||
Rieder MJ,
|
||
Shear NH,
|
||
Hayden MR,
|
||
Carleton BC;
|
||
CPNDS Consortium</span><br />
|
||
<span class="medgenPMjournal">Clin Pharmacol Ther</span>
|
||
2013 Jul;94(1):142-9.
|
||
Epub 2013 Mar 18
|
||
doi: 10.1038/clpt.2013.55.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23588310" target="_blank">23588310</a><a href="/pmc/articles/PMC3839910" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22283394">A nested sequence-specific primer-polymerase chain reaction for the detection of HLA-B*15:02.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Virakul S,
|
||
Kupatawintu P,
|
||
Nakkuntod J,
|
||
Kangwanshiratada O,
|
||
Vilaivan T,
|
||
Hirankarn N</span><br />
|
||
<span class="medgenPMjournal">Tissue Antigens</span>
|
||
2012 Apr;79(4):295-301.
|
||
Epub 2012 Jan 28
|
||
doi: 10.1111/j.1399-0039.2012.01836.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22283394" target="_blank">22283394</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18991696">Pharmacogenetic determinants of immediate and delayed reactions of drug hypersensitivity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guéant JL,
|
||
Guéant-Rodriguez RM,
|
||
Gastin IA,
|
||
Cornejo-García JA,
|
||
Viola M,
|
||
Barbaud A,
|
||
Mertes PM,
|
||
Blanca M,
|
||
Romano A</span><br />
|
||
<span class="medgenPMjournal">Curr Pharm Des</span>
|
||
2008;14(27):2770-7.
|
||
doi: 10.2174/138161208786369795.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18991696" target="_blank">18991696</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Carbamazepine%20hypersensitivity%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (10)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_120">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Therapeutic_recommendations">Therapeutic recommendations</h1><a sid="120" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln" id="therapeutic"><strong>From <a href="https://www.ncbi.nlm.nih.gov/books/NBK321445" target="_blank">Medical Genetics Summaries</a></strong><br /><div id="TheraputicContent"><p><b>This section contains excerpted</b>
|
||
<sup>1</sup>
|
||
<b>information on gene-based dosing recommendations. Neither this section nor other parts of this review contain the complete recommendations from the sources.</b>
|
||
</p><h2>2018 Statement from the US Food and Drug Administration (FDA)</h2><p><b>SJS/TEN and HLA-B*1502 Allele</b>
|
||
</p><p>Retrospective case-control studies have found that in patients of Chinese ancestry there is a strong association between the risk of developing SJS/TEN with carbamazepine treatment and the presence of an inherited variant of the <i>HLA-</i>B gene, <i>HLA-B*15:02</i>. The occurrence of higher rates of these reactions in countries with higher frequencies of this allele suggests that the risk may be increased in allele-positive individuals of any ethnicity.</p><p>Across Asian populations, notable variation exists in the prevalence of <i>HLA-B*15:02</i>. Greater than 15% of the population is reported positive in Hong Kong, Thailand, Malaysia, and parts of the Philippines, compared to about 10% in Taiwan and 4% in North China. South Asians, including Indians, appear to have intermediate prevalence of <i>HLA-B*1502</i>, averaging 2 to 4%, but higher in some groups. <i>HLA- B*15:02</i> is present in <1% of the population in Japan and Korea.</p><p><i>HLA- B*15:02</i> is largely absent in individuals not of Asian origin (e.g., Caucasians, African-Americans, Hispanics, and Native Americans).</p><p>Prior to initiating carbamazepine therapy, testing for <i>HLA-B*15:02</i> should be performed in patients with ancestry in populations in which <i>HLA-B*15:02</i> may be present. In deciding which patients to screen, the rates provided above for the prevalence of <i>HLA- B*15:02</i> may offer a rough guide, keeping in mind the limitations of these figures due to wide variability in rates even within ethnic groups, the difficulty in ascertaining ethnic ancestry, and the likelihood of mixed ancestry. Carbamazepine should not be used in patients positive for <i>HLA-B*15:02</i> unless the benefits clearly outweigh the risks. Tested patients who are found to be negative for the allele are thought to have a low risk of SJS/TEN.</p><p>Over 90% of carbamazepine treated patients who will experience SJS/TEN have this reaction within the first few months of treatment. This information may be taken into consideration in determining the need for screening of genetically at-risk patients currently on carbamazepine.</p><p>The <i>HLA-B*15:02</i> allele has not been found to predict risk of less severe adverse cutaneous reactions from carbamazepine, such as maculopapular eruption (MPE) or to predict Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS).</p><p>Limited evidence suggests that <i>HLA-B*15:02</i> may be a risk factor for the development of SJS/TEN in patients of Chinese ancestry taking other anti-epileptic drugs associated with SJS/TEN, including phenytoin. Consideration should be given to avoiding use of other drugs associated with SJS/TEN in <i>HLA-B*15:02</i> positive patients, when alternative therapies are otherwise equally acceptable.</p><p><b>Hypersensitivity Reactions and <i>HLA-A*31:01</i> Allele</b>
|
||
</p><p>Retrospective case-control studies in patients of European, Korean, and Japanese ancestry have found a moderate association between the risk of developing hypersensitivity reactions and the presence of <i>HLA-A*31:01</i>, an inherited allelic variant of the <i>HLA-A</i> gene, in patients using carbamazepine. These hypersensitivity reactions include SJS/TEN, maculopapular eruptions, and Drug Reaction with Eosinophilia and Systemic Symptoms.</p><p><i>HLA-A*31:01</i> is expected to be present in the following approximate frequencies: greater than 15% in patients of Japanese and Native American ancestry; up to about 10% in patients of Han Chinese, Korean, European, and Latin American ancestry; and up to about 5% in African-Americans and patients of Indian, Thai, Taiwanese, and Chinese (Hong Kong) ancestry.</p><p>The risks and benefits of carbamazepine therapy should be weighed before considering carbamazepine in patients known to be positive for <i>HLA-A*31:01</i>.</p><p><b>General Information on <i>HLA</i> Genotyping and Hypersensitivity</b>
|
||
</p><p>Application of <i>HLA</i> genotyping as a screening tool has important limitations and must never substitute for appropriate clinical vigilance and patient management. Many <i>HLA-B*15:02-</i>positive and <i>HLA- A*31:01</i>-positive patients treated with carbamazepine will not develop SJS/TEN or other hypersensitivity reactions, and these reactions can still occur infrequently in <i>HLA-B*15:02</i>-negative and <i>HLA-A*31:01</i>-negative patients of any ethnicity. The role of other possible factors in the development of, and morbidity from, SJS/TEN and other hypersensitivity reactions, such as antiepileptic drug (AED) dose, compliance, concomitant medications, co-morbidities, and the level of dermatologic monitoring have not been studied.</p><p><b>Please review the complete therapeutic recommendations that are located here:</b>
|
||
(1).</p><h2>2015 Summary of recommendations from the Dutch Pharmacogenetics Working Group (DPWG) of the Royal Dutch Association for the Advancement of Pharmacy (KNMP)</h2><h2>HLA-B*15:02: CARBAMAZEPINE</h2><p>Patients with this genetic variation have a severely increased risk of experiencing the life-threatening cutaneous adverse event Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN). The risk of carbamazepine-induced SJS/TEN in these patients is 1.8-3.4%.</p><p>Recommendation:</p><ol><li>choose an alternative if possible</li></ol><h2>HLA-A*31:01: CARBAMAZEPINE</h2><p>Patients with this genetic variation have an increased risk of experiencing the life-threatening cutaneous adverse events DRESS and Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN). The risk of carbamazepine-induced DRESS in these patients is 0.89%.</p><p>Recommendation:</p><ol><li>carefully weigh the risk of DRESS and SJS/TEN against the benefits</li><li>if an alternative is an option, choose an alternative</li></ol><h2>HLA-B*15:11: CARBAMAZEPINE</h2><p>Patients with this genetic variation have an increased risk of experiencing the life-threatening cutaneous adverse event Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN). The risk of carbamazepine-induced SJS/TEN in patients with the HLA-B*15:02 allele, which carries a 4.6-6.6 times higher risk than the HLA-B*15:11 allele, is 1.8-3.4%. This would equate to a risk of carbamazepine-induced SJS/TEN in these patients of 0.27-0.73%.</p><p>Recommendation:</p><ol><li>carefully weigh the risk of SJS/TEN against the benefits</li><li>if an alternative is an option, choose an alternative</li></ol><p><b>Please review the complete therapeutic recommendations that are located here: (2)</b>
|
||
.</p><h2>2017 Statement from the Clinical Pharmacogenetics Implementation Consortium (CPIC)</h2><p>The therapeutic recommendations for <i>HLA-B*15:02</i> and carbamazepine remain unchanged from the original guideline (3) but in this update they are now also applicable to oxcarbazepine (4). These recommendations hold irrespective of the patient’s region of origin or ethnic group. For patients who are <i>HLA-B*15:02</i> negative, carbamazepine or oxcarbazepine may be prescribed per standard guidelines. If a patient is carbamazepine-naïve or oxcarbazepine-naïve and <i>HLA-B*15:02</i> positive, carbamazepine and oxcarbazepine should be avoided, respectively, due to the greater risk of SJS/TEN. Other aromatic anticonvulsants, including eslicarbazepine, lamotrigine, phenytoin, fosphenytoin, and phenobarbital, have very limited evidence, if any, linking SJS/TEN with the <i>HLA-B*15:02</i> allele; however, caution should still be used when choosing an alternative agent. With regular dosing, carbamazepine- or oxcarbazepine-induced SJS/TEN usually develops within the first 4–28 days of therapy; therefore, patients who have been continuously taking carbamazepine or oxcarbazepine for longer than 3 months without developing cutaneous reactions are at extremely low risk (but not zero) of carbamazepine- or oxcarbazepine-induced adverse events in the future, regardless of <i>HLA-B*15:02</i> status.</p><p>For patients who are <i>HLA-A*31:01</i> negative, carbamazepine may be prescribed per standard guidelines (Table 3). If a carbamazepine-naïve patient also received testing for <i>HLA-B*15:02</i> and is positive for this allele, carbamazepine should be avoided regardless of the <i>HLA-A*31:01</i> genotype result. If a patient is carbamazepine-naïve and <i>HLA-A*31:01</i> positive, and if alternative agents are available, carbamazepine should be avoided due to the greater risk of SJS/TEN, DRESS, and MPE. Other aromatic anticonvulsants, including oxcarbazepine, have very limited evidence, if any, linking SJS/TEN, DRESS, and/or MPE with the <i>HLA-A*31:01</i> allele, and thus no recommendation can be made with respect to choosing another aromatic anticonvulsant as an alternative agent. If alternative agents are not available, consider the use of carbamazepine with increased frequency of clinical monitoring. Discontinue therapy at the first evidence of a cutaneous adverse reaction. As previously mentioned, since the latency period for cutaneous adverse drug reactions is known, if the patient is <i>HLA-A*31:01</i> positive and has previously used carbamazepine for longer than 3 months without incidence of a cutaneous adverse reaction, cautiously consider use of carbamazepine.</p><p><b>Please review the complete therapeutic recommendations that are located here:</b>
|
||
(4).</p><h2>2014 Recommendations from the Canadian Pharmacogenomics Network for Drug Safety (CPNDS)</h2><p>Recommendation 1.1: Genetic testing for <i>HLA- B*15:02</i> is recommended for all carbamazepine (CBZ)-naive patients before initiation of carbamazepine therapy (Level A – strong in patients originating from populations where <i>HLA- B*15:02</i> is common, its frequency unknown or whose origin is unknown; Level C – optional in patients originating from populations where <i>HLA-B*15:02</i> is rare). Genetic testing for <i>HLA-A*31:01</i> is recommended for all carbamazepine-naive patients before initiation of carbamazepine therapy (Level B – moderate in all patients; Table 6).</p><p>Recommendation 1.2: In patients who have previously taken carbamazepine for > 3 months without any adverse effects, and in whom reinitiation of carbamazepine is considered, genetic testing is NOT recommended (B). In patients who have previously taken carbamazepine for a shorter period, genetic testing should be considered (B).</p><p>Recommendation 1.3: In patients who have previously experienced a hypersensitivity reaction (HSR) potentially related to carbamazepine, genetic testing is recommended as part of the differential diagnosis and for the direction of future therapy (B).</p><p>Recommendation 1.4: In patients for whom no alternative treatment options are available, genetic testing is recommended to ensure increased alertness to hypersensitivity symptoms in positive patients (B).</p><p>Recommendation 2.1: Genetic testing for <i>HLA- B*15:02</i> is most beneficial in patients originating from a population where <i>HLA-B*15:02</i> is common (e.g., Chinese, Thai, Indian, Malay, Filipino, Indonesian; A). Nevertheless, genotyping for <i>HLA-B*15:02</i> should be considered in ALL patients, irrespective of their ancestry, as the safest option (C).</p><p>Recommendation 2.2: <i>HLA-A*31:01</i> is common in most populations studied so far. Therefore, genetic testing for this variant is recommended in patients of all ancestries (B).</p><p>Recommendation 3.1: In patients who are positive for <i>HLA-B*15:02</i> or <i>HLA-A*31:01</i>, alternative medications should be used as first-line therapy (A). Consideration in the choice of alternative medications should be given to the possibility of cross-reactivity with structurally similar antiepileptic drugs (AED) (oxcarbazepine, lamotrigine, phenytoin, phenobarbital, primidone).</p><p>Recommendation 3.2: In patients who are negative for <i>HLA-B*15:02</i> and <i>HLA-A*31:01</i>, carbamazepine can be used as first-line therapy (A). However, the occurrence of a hypersensitivity reaction cannot be excluded based on a negative genetic test result.</p><table id="carbamazepine.T.grading_scheme_used_for" frame="hsides" rules="groups"><caption>Table 7. Grading scheme used for clinical practice recommendations</caption><tfoot><tr><td colspan="3">Table adapted from: Amstutz, U., N.H. Shear, M.J. Rieder, S. Hwang, et al., Recommendations for <i>HLA-B*15:02</i> and <i>HLA-A*31:01</i> genetic testing to reduce the risk of carbamazepine-induced hypersensitivity reactions. Epilepsia, 2014. 55(4): p. 496-506 (5).</td></tr></tfoot><thead><tr><th id="hd_h_carbamazepine.T.grading_scheme_used_for_1_1_1_1" valign="top" align="left" scope="col" rowspan="1" colspan="1">Level</th><th id="hd_h_carbamazepine.T.grading_scheme_used_for_1_1_1_2" valign="top" align="left" scope="col" rowspan="1" colspan="1">Strength</th><th id="hd_h_carbamazepine.T.grading_scheme_used_for_1_1_1_3" valign="top" align="left" scope="col" rowspan="1" colspan="1">Evidence basis</th></tr></thead><tbody><tr><td headers="hd_h_carbamazepine.T.grading_scheme_used_for_1_1_1_1" valign="top" align="left" scope="row" rowspan="1" colspan="1">A</td><td headers="hd_h_carbamazepine.T.grading_scheme_used_for_1_1_1_2" valign="top" align="left" rowspan="1" colspan="1">Strong</td><td headers="hd_h_carbamazepine.T.grading_scheme_used_for_1_1_1_3" valign="top" align="left" rowspan="1" colspan="1">Based on strong scientific evidence; benefits clearly outweigh risks</td></tr><tr><td headers="hd_h_carbamazepine.T.grading_scheme_used_for_1_1_1_1" valign="top" align="left" scope="row" rowspan="1" colspan="1">B</td><td headers="hd_h_carbamazepine.T.grading_scheme_used_for_1_1_1_2" valign="top" align="left" rowspan="1" colspan="1">Moderate</td><td headers="hd_h_carbamazepine.T.grading_scheme_used_for_1_1_1_3" valign="top" align="left" rowspan="1" colspan="1">Based on reduced confidence scientific evidence and expert opinion;<br />benefits likely to outweigh risks</td></tr><tr><td headers="hd_h_carbamazepine.T.grading_scheme_used_for_1_1_1_1" valign="top" align="left" scope="row" rowspan="1" colspan="1">C</td><td headers="hd_h_carbamazepine.T.grading_scheme_used_for_1_1_1_2" valign="top" align="left" rowspan="1" colspan="1">Optional</td><td headers="hd_h_carbamazepine.T.grading_scheme_used_for_1_1_1_3" valign="top" align="left" rowspan="1" colspan="1">Based mainly on expert opinion,<br />for use with evidence development in a research context</td></tr></tbody></table><p><b>Please review the complete therapeutic recommendations that are located here:</b>
|
||
(5).</p><table id="carbamazepine.T.cpic_2016_recommendation" frame="hsides" rules="groups"><caption>Table 3. CPIC (2016) Recommendations for Carbamazepine Therapy based on <i>HLA-B</i> and <i>HLA-A</i> Genotype.</caption><tfoot><tr><td colspan="5">DRESS, drug reaction with eosinophilia and systemic symptoms; MPE, maculopapular exanthema; N/A, not applicable; SJS, Stevens-Johnson syndrome; TEN, toxic epidermal necrolysis.<sup>a</sup>
|
||
If only <i>HLA-B</i>*<i>15:02</i> was tested, assume <i>HLA-A</i>*31:01 is negative and vice versa. <sup>b</sup>
|
||
<i>HLA-B</i>*<i>15:02</i> has a 100% negative predictive value for carbamazepine-induced SJS/ TEN, and its use is currently recommended to guide the use of carbamazepine and oxcarbazepine only. Because there is a much weaker association and less than 100% negative predictive value of <i>HLA-B</i>*<i>15:02</i> for SJS/TEN associated with other aromatic anticonvulsants, using these drugs instead of carbamazepine or oxcarbazepine in the setting of a negative <i>HLA-B*15:02</i> test in Southeast Asians will not result in prevention of anticonvulsant-associated SJS/TEN.<sup>c</sup>
|
||
In addition to <i>HLA-B</i>*<i>15:02</i>, the risk for carbamazepine-induced SJS/TEN has been reported in association with the most common B75 serotype alleles in Southeast Asia, <i>HLA-B</i>*15:08, <i>HLA-B</i>*<i>15:11</i>, and <i>HLA- B</i>*<i>15:21</i>. Although not described, the possibility of carbamazepine-induced SJS/TEN in association with less frequently carried B75 serotype alleles, such as <i>HLA- B</i>*1<i>5:30</i> and <i>HLA-B</i>*<i>15:31</i>, should also be considered. <sup>d</sup>
|
||
Aromatic anticonvulsants include carbamazepine, oxcarbazepine, eslicarbazepine, lamotrigine, phenytoin, fosphenytoin, and phenobarbital.</td></tr><tr><td colspan="5">This table is adapted from Phillips EJ, Sukasem C, Whirl-Carrillo M, Müller DJ, Dunnenberger HM, Chantratita W, Goldspiel B, Chen YT, Carleton BC, George ALJ, Mushiroda T, Klein T, Gammal RS, and Pirmohamed M. Clinical Pharmacogenetics Implementation Consortium Guideline for HLA Genotype and Use of Carbamazepine and Oxcarbazepine: 2017 Update. Clinical pharmacology and therapeutics (4).</td></tr></tfoot><thead><tr><th id="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_1" valign="top" align="left" scope="col" rowspan="1" colspan="1">Genotype<sup>a</sup>
|
||
</th><th id="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_2" valign="top" align="left" scope="col" rowspan="1" colspan="1">Implication</th><th id="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_3" valign="top" align="left" scope="col" rowspan="1" colspan="1">Therapeutic recommendation</th><th id="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_4" valign="top" align="left" scope="col" rowspan="1" colspan="1">Classification of recommendations</th><th id="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_5" valign="top" align="left" scope="col" rowspan="1" colspan="1">Considerations for other aromatic anticonvulsants</th></tr></thead><tbody><tr><td headers="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_1" valign="top" align="left" scope="row" rowspan="1" colspan="1"><i>HLA-B*15:02</i> negative and <i>HLA-A*31:01</i> negative</td><td headers="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_2" valign="top" align="left" rowspan="1" colspan="1">Normal risk of carbamazepine-induced SJS/TEN, DRESS, and MPE</td><td headers="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_3" valign="top" align="left" rowspan="1" colspan="1">Use carbamazepine per standard dosing guidelines.<sup>b</sup>
|
||
</td><td headers="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_4" valign="top" align="left" rowspan="1" colspan="1">Strong</td><td headers="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_5" valign="top" align="left" rowspan="1" colspan="1">N/A</td></tr><tr><td headers="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_1" rowspan="3" valign="top" align="left" scope="row" colspan="1"><i>HLA-B*15:02</i> negative and <i>HLA-A*31:01</i> positive</td><td headers="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_2" rowspan="3" valign="top" align="left" colspan="1">Greater risk of carbamazepine-induced SJS/TEN, DRESS, and MPE</td><td headers="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_3" valign="top" align="left" rowspan="1" colspan="1">If patient is carbamazepine-naïve and alternative agents are available, do not use carbamazepine.</td><td headers="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_4" valign="top" align="left" rowspan="1" colspan="1">Strong</td><td headers="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_5" valign="top" align="left" rowspan="1" colspan="1">Other aromatic anticonvulsants<sup>d</sup>
|
||
have very limited evidence, if any, linking SJS/ TEN, DRESS, and/or MPE with the <i>HLA-A*31:01</i> allele, and thus no recommendation can be made with respect to choosing another aromatic anticonvulsant as an alternative agent.</td></tr><tr><td headers="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_3" valign="top" colspan="1" align="left" scope="row" rowspan="1">If patient is carbamazepine-naïve and alternative agents are not available, consider the use of carbamazepine with increased frequency of clinical monitoring. Discontinue therapy at first evidence of a cutaneous adverse reaction.</td><td headers="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_4" valign="top" align="left" rowspan="1" colspan="1">Optional</td><td headers="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_5" valign="top" align="left" rowspan="1" colspan="1">N/A</td></tr><tr><td headers="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_3" valign="top" colspan="1" align="left" scope="row" rowspan="1">The latency period for cutaneous adverse drug reactions is variable depending on phenotype; however, all usually occur within three months of regular dosing. Therefore, if the patient has previously used carbamazepine consistently for longer than three months without incidence of cutaneous adverse reactions, cautiously consider use of carbamazepine.</td><td headers="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_4" valign="top" align="left" rowspan="1" colspan="1">Optional</td><td headers="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_5" valign="top" align="left" rowspan="1" colspan="1">Previous tolerance of carbamazepine is not indicative of tolerance to other aromatic anticonvulsants.<sup>d</sup>
|
||
</td></tr><tr><td headers="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_1" rowspan="2" valign="top" align="left" scope="row" colspan="1"><i>HLA-B*15:02</i> positive<sup>c</sup>
|
||
and any <i>HLA-A*31:01</i> genotype (or <i>HLA-A*31:01</i> genotype unknown)</td><td headers="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_2" rowspan="2" valign="top" align="left" colspan="1">Greater risk of carbamazepine-induced SJS/TEN</td><td headers="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_3" valign="top" align="left" rowspan="1" colspan="1">If patient is carbamazepine-naïve, do not use carbamazepine.</td><td headers="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_4" valign="top" align="left" rowspan="1" colspan="1">Strong</td><td headers="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_5" valign="top" align="left" rowspan="1" colspan="1">Other aromatic anticonvulsants<sup>d</sup>
|
||
have weaker evidence linking SJS/TEN with the <i>HLA-B*15:02</i> allele; however, caution should still be used in choosing an alternative agent.</td></tr><tr><td headers="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_3" valign="top" colspan="1" align="left" scope="row" rowspan="1">The latency period for drug-induced SJS/TEN is short with continuous dosing and adherence to therapy (4-28 days), and cases usually occur within three months of dosing; therefore, if the patient has previously used carbamazepine consistently for longer than three months without incidence of cutaneous adverse reactions, cautiously consider use of carbamazepine in the future.</td><td headers="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_4" valign="top" align="left" rowspan="1" colspan="1">Optional</td><td headers="hd_h_carbamazepine.T.cpic_2016_recommendation_1_1_1_5" valign="top" align="left" rowspan="1" colspan="1">Previous tolerance of carbamazepine is not indicative of tolerance to other aromatic anticonvulsants.<sup>d</sup>
|
||
</td></tr></tbody></table><table id="carbamazepine.T.cpic_2017_assignment_of" frame="hsides" rules="groups"><caption>Table 6. CPIC (2017). Assignment of likely <i>HLA-B and HLA-A</i> genotype</caption><tfoot><tr><td colspan="3"><sup>a</sup>
|
||
|
||
. Where *X 5 any <i>HLA-B</i> allele other than <i>HLA-B*15:02</i>. <sup>b</sup>
|
||
Where *Y 5 any <i>HLA-A</i> allele other than <i>HLA-A*31:01</i>.</td></tr><tr><td colspan="3">Table is adapted from Phillips EJ, Sukasem C, Whirl-Carrillo M, Müller DJ, Dunnenberger HM, Chantratita W, Goldspiel B, Chen YT, Carleton BC, George ALJ, Mushiroda T, Klein T, Gammal RS, and Pirmohamed M. Clinical Pharmacogenetics Implementation Consortium Guideline for HLA Genotype and Use of Carbamazepine and Oxcarbazepine: 2017 Update. Clinical pharmacology and therapeutics (4).</td></tr></tfoot><thead><tr><th id="hd_h_carbamazepine.T.cpic_2017_assignment_of_1_1_1_1" valign="top" align="left" scope="col" rowspan="1" colspan="1">Genotype</th><th id="hd_h_carbamazepine.T.cpic_2017_assignment_of_1_1_1_2" valign="top" align="left" scope="col" rowspan="1" colspan="1">Definition</th><th id="hd_h_carbamazepine.T.cpic_2017_assignment_of_1_1_1_3" valign="top" align="left" scope="col" rowspan="1" colspan="1">Examples of diplotypes</th></tr></thead><tbody><tr><td headers="hd_h_carbamazepine.T.cpic_2017_assignment_of_1_1_1_1" valign="top" align="left" scope="row" rowspan="1" colspan="1"><i>HLA-B*15:02</i> negative</td><td headers="hd_h_carbamazepine.T.cpic_2017_assignment_of_1_1_1_2" valign="top" align="left" rowspan="1" colspan="1">Homozygous for an allele other than <i>HLA-A*15:02</i></td><td headers="hd_h_carbamazepine.T.cpic_2017_assignment_of_1_1_1_3" valign="top" align="left" rowspan="1" colspan="1"><i>*X/*X<sup>a</sup>
|
||
</i></td></tr><tr><td headers="hd_h_carbamazepine.T.cpic_2017_assignment_of_1_1_1_1" valign="top" align="left" scope="row" rowspan="1" colspan="1"><i>HLA-B*15:02</i> positive</td><td headers="hd_h_carbamazepine.T.cpic_2017_assignment_of_1_1_1_2" valign="top" align="left" rowspan="1" colspan="1">Heterozygous or homozygous variant</td><td headers="hd_h_carbamazepine.T.cpic_2017_assignment_of_1_1_1_3" valign="top" align="left" rowspan="1" colspan="1"><i>*15:02/*X<sup>a</sup>
|
||
, *15:02/*15:02</i></td></tr><tr><td headers="hd_h_carbamazepine.T.cpic_2017_assignment_of_1_1_1_1" valign="top" align="left" scope="row" rowspan="1" colspan="1"><i>HLA-A*31:01</i> negative</td><td headers="hd_h_carbamazepine.T.cpic_2017_assignment_of_1_1_1_2" valign="top" align="left" rowspan="1" colspan="1">Homozygous for an allele other than <i>HLA-A*31:01</i></td><td headers="hd_h_carbamazepine.T.cpic_2017_assignment_of_1_1_1_3" valign="top" align="left" rowspan="1" colspan="1"><i>*Y<sup>b</sup>
|
||
/*Y<sup>b</sup>
|
||
</i></td></tr><tr><td headers="hd_h_carbamazepine.T.cpic_2017_assignment_of_1_1_1_1" valign="top" align="left" scope="row" rowspan="1" colspan="1"><i>HLA-A*31:01</i> positive</td><td headers="hd_h_carbamazepine.T.cpic_2017_assignment_of_1_1_1_2" valign="top" align="left" rowspan="1" colspan="1">Heterozygous or homozygous variant</td><td headers="hd_h_carbamazepine.T.cpic_2017_assignment_of_1_1_1_3" valign="top" align="left" rowspan="1" colspan="1"><i>31:01/*Y<sup>b</sup>
|
||
, *31:01/*31:01</i></td></tr></tbody></table><p><sup>1</sup>
|
||
<i>The FDA labels specific drug formulations. We have substituted the generic names for any drug labels in this excerpt. The FDA may not have labeled all formulations containing the generic drug. Certain terms, genes and genetic variants may be corrected in accordance to nomenclature standards, where necessary. We have given the full name of abbreviations where necessary, other author insertions are shown in square brackets.</i></p></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3277286%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3277286%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3277286%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3277286%5bDISCUI%5d" target="_blank">See all (6)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.pharmgkb.org/chemical/PA448785" target="_blank">PharmGKB</a></li><li><a href="https://clinicaltrials.gov/search?cond=Carbamazepine%20hypersensitivity" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22carbamazepine%20hypersensitivity%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=7a1e523a-b377-43dc-b231-7591c4c888ea">DailyMed Drug Label, 2022</a><div>DailyMed Drug Label, CARBAMAZEPINE, 2022</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=142830" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3106[geneid]" target="_blank">View HLA-B variations in ClinVar</a></li><li><a href="/nuccore/299782605" target="_blank">RefSeqGene</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/severe_cutaneous_adverse_reaction" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Carbamazepine%20hypersensitivity" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/books/NBK321445" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank">Medical Genetics Summaries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Carbamazepine%20hypersensitivity" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Carbamazepine%20hypersensitivity%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=478916" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=478916" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3277286[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3277286[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=478916" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=478916" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=478916" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=478916" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=478916" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cd1aa0a68b6b5afc6fe453">Carbamazepine hypersensitivity</a>
|
||
<div class="ralinkpop offscreen_noflow">Carbamazepine hypersensitivity<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cd1a9ff4a390645e4212ed">C3277286[conceptid] <span class="number">(1)</span></a>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cd1a9ff4a390645e420e76">C4748670[trait identifier] AND "OMIM"[submitter] <span class="number">(10)</span></a>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cd1a9eb15b832ebcf55832">C4747394[trait identifier] AND "OMIM"[submitter] <span class="number">(6)</span></a>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cd1a9df4a390645e4206b1">C0340803[trait identifier] AND "OMIM"[submitter] <span class="number">(2)</span></a>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
</ul>
|
||
<p class="HTOn">Your browsing activity is empty.</p>
|
||
<p class="HTOff">Activity recording is turned off.</p>
|
||
<p id="turnOn" class="HTOff">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn">Turn recording back on</a>
|
||
</p>
|
||
<a class="seemore" href="/sites/myncbi/recentactivity">See more...</a>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div id="NCBIFooter_dynamic">
|
||
<!--<component id="NCBIBreadcrumbs"/>
|
||
<component id="NCBIHelpDesk"/>-->
|
||
<noscript><img alt="" src="/stat?jsdisabled=true&ncbi_app=entrez&ncbi_db=medgen&ncbi_pdid=FullReport&ncbi_phid=CE8EDE297CD11C5100000000009B007C" /></noscript>
|
||
</div>
|
||
|
||
<div xmlns="http://www.w3.org/1999/xhtml" class="footer" id="footer" xml:base="http://127.0.0.1/sites/static/header_footer/">
|
||
<section class="icon-section">
|
||
<div id="icon-section-header" class="icon-section_header">Follow NCBI</div>
|
||
<div class="grid-container container">
|
||
<div class="icon-section_container">
|
||
<a class="footer-icon" id="footer_twitter" href="https://twitter.com/ncbi" aria-label="Twitter">
|
||
<svg xmlns="http://www.w3.org/2000/svg" width="40" height="40" viewBox="0 0 40 40" fill="none">
|
||
<title>Twitter</title>
|
||
<g id="twitterx1008">
|
||
<path id="path1008" d="M6.06736 7L16.8778 20.8991L6.00001 32.2H10.2L18.6 23.1L25.668 32.2H34L22.8 17.5L31.9 7H28.4L20.7 15.4L14.401 7H6.06898H6.06736ZM9.66753 8.73423H12.9327L29.7327 30.4658H26.5697L9.66753 8.73423Z" fill="#5B616B"></path>
|
||
</g>
|
||
</svg>
|
||
</a>
|
||
<a class="footer-icon" id="footer_facebook" href="https://www.facebook.com/ncbi.nlm" aria-label="Facebook"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
|
||
<title>Facebook</title>
|
||
<path class="cls-11" d="M210.5,115.12H171.74V97.82c0-8.14,5.39-10,9.19-10h27.14V52l-39.32-.12c-35.66,0-42.42,26.68-42.42,43.77v19.48H99.09v36.32h27.24v109h45.41v-109h35Z">
|
||
</path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_linkedin" href="https://www.linkedin.com/company/ncbinlm" aria-label="LinkedIn"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
|
||
<title>LinkedIn</title>
|
||
<path class="cls-11" d="M101.64,243.37H57.79v-114h43.85Zm-22-131.54h-.26c-13.25,0-21.82-10.36-21.82-21.76,0-11.65,8.84-21.15,22.33-21.15S101.7,78.72,102,90.38C102,101.77,93.4,111.83,79.63,111.83Zm100.93,52.61A17.54,17.54,0,0,0,163,182v61.39H119.18s.51-105.23,0-114H163v13a54.33,54.33,0,0,1,34.54-12.66c26,0,44.39,18.8,44.39,55.29v58.35H198.1V182A17.54,17.54,0,0,0,180.56,164.44Z">
|
||
</path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_github" href="https://github.com/ncbi" aria-label="GitHub"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
|
||
<defs>
|
||
<style>
|
||
.cls-11,
|
||
.cls-12 {
|
||
fill: #737373;
|
||
}
|
||
|
||
.cls-11 {
|
||
fill-rule: evenodd;
|
||
}
|
||
</style>
|
||
</defs>
|
||
<title>GitHub</title>
|
||
<path class="cls-11" d="M151.36,47.28a105.76,105.76,0,0,0-33.43,206.1c5.28,1,7.22-2.3,7.22-5.09,0-2.52-.09-10.85-.14-19.69-29.42,6.4-35.63-12.48-35.63-12.48-4.81-12.22-11.74-15.47-11.74-15.47-9.59-6.56.73-6.43.73-6.43,10.61.75,16.21,10.9,16.21,10.9,9.43,16.17,24.73,11.49,30.77,8.79,1-6.83,3.69-11.5,6.71-14.14C108.57,197.1,83.88,188,83.88,147.51a40.92,40.92,0,0,1,10.9-28.39c-1.1-2.66-4.72-13.42,1-28,0,0,8.88-2.84,29.09,10.84a100.26,100.26,0,0,1,53,0C198,88.3,206.9,91.14,206.9,91.14c5.76,14.56,2.14,25.32,1,28a40.87,40.87,0,0,1,10.89,28.39c0,40.62-24.74,49.56-48.29,52.18,3.79,3.28,7.17,9.71,7.17,19.58,0,14.15-.12,25.54-.12,29,0,2.82,1.9,6.11,7.26,5.07A105.76,105.76,0,0,0,151.36,47.28Z">
|
||
</path>
|
||
<path class="cls-12" d="M85.66,199.12c-.23.52-1.06.68-1.81.32s-1.2-1.06-.95-1.59,1.06-.69,1.82-.33,1.21,1.07.94,1.6Zm-1.3-1">
|
||
</path>
|
||
<path class="cls-12" d="M90,203.89c-.51.47-1.49.25-2.16-.49a1.61,1.61,0,0,1-.31-2.19c.52-.47,1.47-.25,2.17.49s.82,1.72.3,2.19Zm-1-1.08">
|
||
</path>
|
||
<path class="cls-12" d="M94.12,210c-.65.46-1.71,0-2.37-.91s-.64-2.07,0-2.52,1.7,0,2.36.89.65,2.08,0,2.54Zm0,0"></path>
|
||
<path class="cls-12" d="M99.83,215.87c-.58.64-1.82.47-2.72-.41s-1.18-2.06-.6-2.7,1.83-.46,2.74.41,1.2,2.07.58,2.7Zm0,0">
|
||
</path>
|
||
<path class="cls-12" d="M107.71,219.29c-.26.82-1.45,1.2-2.64.85s-2-1.34-1.74-2.17,1.44-1.23,2.65-.85,2,1.32,1.73,2.17Zm0,0">
|
||
</path>
|
||
<path class="cls-12" d="M116.36,219.92c0,.87-1,1.59-2.24,1.61s-2.29-.68-2.3-1.54,1-1.59,2.26-1.61,2.28.67,2.28,1.54Zm0,0">
|
||
</path>
|
||
<path class="cls-12" d="M124.42,218.55c.15.85-.73,1.72-2,1.95s-2.37-.3-2.52-1.14.73-1.75,2-2,2.37.29,2.53,1.16Zm0,0"></path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_blog" href="https://ncbiinsights.ncbi.nlm.nih.gov/" aria-label="Blog">
|
||
<svg xmlns="http://www.w3.org/2000/svg" id="Layer_1" data-name="Layer 1" viewBox="0 0 40 40">
|
||
<defs><style>.cls-1{fill:#737373;}</style></defs>
|
||
<title>NCBI Insights Blog</title>
|
||
<path class="cls-1" d="M14,30a4,4,0,1,1-4-4,4,4,0,0,1,4,4Zm11,3A19,19,0,0,0,7.05,15a1,1,0,0,0-1,1v3a1,1,0,0,0,.93,1A14,14,0,0,1,20,33.07,1,1,0,0,0,21,34h3a1,1,0,0,0,1-1Zm9,0A28,28,0,0,0,7,6,1,1,0,0,0,6,7v3a1,1,0,0,0,1,1A23,23,0,0,1,29,33a1,1,0,0,0,1,1h3A1,1,0,0,0,34,33Z"></path>
|
||
</svg>
|
||
</a>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
|
||
<section class="container-fluid bg-primary">
|
||
<div class="container pt-5">
|
||
<div class="row mt-3">
|
||
<div class="col-lg-3 col-12">
|
||
<p><a class="text-white" href="https://www.nlm.nih.gov/socialmedia/index.html">Connect with NLM</a></p>
|
||
<ul class="list-inline social_media">
|
||
<li class="list-inline-item"><a href="https://twitter.com/NLM_NIH" aria-label="Twitter" target="_blank" rel="noopener noreferrer">
|
||
<svg xmlns="http://www.w3.org/2000/svg" width="35" height="35" viewBox="0 0 36 35" fill="none">
|
||
<title>Twitter</title>
|
||
<g id="twitterx1009" clip-path="url(#clip0_65276_3946)">
|
||
<path id="Vector_Twitter" d="M17.5006 34.6565C26.9761 34.6565 34.6575 26.9751 34.6575 17.4996C34.6575 8.02416 26.9761 0.342773 17.5006 0.342773C8.02514 0.342773 0.34375 8.02416 0.34375 17.4996C0.34375 26.9751 8.02514 34.6565 17.5006 34.6565Z" fill="#205493" stroke="white" stroke-width="1.0" stroke-miterlimit="10"></path>
|
||
<path id="path1009" d="M8.54811 8.5L16.2698 18.4279L8.50001 26.5H11.5L17.5 20L22.5486 26.5H28.5L20.5 16L27 8.5H24.5L19 14.5L14.5007 8.5H8.54927H8.54811ZM11.1197 9.73873H13.4519L25.4519 25.2613H23.1926L11.1197 9.73873Z" fill="white"></path>
|
||
</g>
|
||
<defs>
|
||
<clipPath id="clip0_65276_3946">
|
||
<rect width="35" height="35" fill="white"></rect>
|
||
</clipPath>
|
||
</defs>
|
||
</svg>
|
||
</a></li>
|
||
<li class="list-inline-item"><a href="https://www.facebook.com/nationallibraryofmedicine" aria-label="Facebook" rel="noopener noreferrer" target="_blank">
|
||
<svg xmlns="http://www.w3.org/2000/svg" width="35" height="35" viewBox="0 0 36 35" fill="none">
|
||
<title>Facebook</title>
|
||
<g id="Facebook" clip-path="url(#clip0_1717_1086)">
|
||
<path id="Vector_Facebook" d="M15.1147 29.1371C15.1147 29.0822 15.1147 29.0296 15.1147 28.9747V18.9414H11.8183C11.6719 18.9414 11.6719 18.9414 11.6719 18.8018C11.6719 17.5642 11.6719 16.3289 11.6719 15.0937C11.6719 14.9793 11.7062 14.9518 11.816 14.9518C12.8683 14.9518 13.9206 14.9518 14.9751 14.9518H15.1215V14.8329C15.1215 13.8057 15.1215 12.774 15.1215 11.7492C15.1274 10.9262 15.3148 10.1146 15.6706 9.37241C16.1301 8.38271 16.9475 7.60378 17.9582 7.19235C18.6492 6.90525 19.3923 6.76428 20.1405 6.7783C21.0029 6.79202 21.8653 6.83091 22.7278 6.86065C22.8879 6.86065 23.048 6.89496 23.2082 6.90182C23.2974 6.90182 23.3271 6.94071 23.3271 7.02993C23.3271 7.54235 23.3271 8.05477 23.3271 8.5649C23.3271 9.16882 23.3271 9.77274 23.3271 10.3767C23.3271 10.4819 23.2974 10.5139 23.1921 10.5116C22.5379 10.5116 21.8814 10.5116 21.2271 10.5116C20.9287 10.5184 20.6316 10.5528 20.3395 10.6146C20.0822 10.6619 19.8463 10.7891 19.6653 10.9779C19.4842 11.1668 19.3672 11.4078 19.3307 11.6669C19.2857 11.893 19.2612 12.1226 19.2575 12.3531C19.2575 13.1904 19.2575 14.0299 19.2575 14.8695C19.2575 14.8946 19.2575 14.9198 19.2575 14.9564H23.0229C23.1807 14.9564 23.183 14.9564 23.1624 15.1074C23.0778 15.7662 22.9885 16.425 22.9039 17.0816C22.8322 17.6321 22.7636 18.1827 22.698 18.7332C22.6729 18.9437 22.6797 18.9437 22.4693 18.9437H19.2644V28.8992C19.2644 28.9793 19.2644 29.0593 19.2644 29.1394L15.1147 29.1371Z" fill="white"></path>
|
||
<path id="Vector_2_Facebook" d="M17.5006 34.657C26.9761 34.657 34.6575 26.9756 34.6575 17.5001C34.6575 8.02465 26.9761 0.343262 17.5006 0.343262C8.02514 0.343262 0.34375 8.02465 0.34375 17.5001C0.34375 26.9756 8.02514 34.657 17.5006 34.657Z" stroke="white" stroke-width="1.0" stroke-miterlimit="10"></path>
|
||
</g>
|
||
<defs>
|
||
<clipPath id="clip0_1717_1086">
|
||
<rect width="35" height="35" fill="white"></rect>
|
||
</clipPath>
|
||
</defs>
|
||
</svg>
|
||
</a></li>
|
||
<li class="list-inline-item"><a href="https://www.youtube.com/user/NLMNIH" aria-label="Youtube" target="_blank" rel="noopener noreferrer">
|
||
<svg xmlns="http://www.w3.org/2000/svg" width="35" height="35" viewBox="0 0 36 35" fill="none">
|
||
<title>Youtube</title>
|
||
<g id="YouTube" clip-path="url(#clip0_1717_1101)">
|
||
<path id="Vector_Youtube" d="M26.2571 11.4791C25.9025 11.1589 25.5709 10.9576 24.228 10.834C22.5512 10.6785 20.2797 10.6556 18.564 10.6533H16.4365C14.7208 10.6533 12.4493 10.6785 10.7725 10.834C9.43196 10.9576 9.09798 11.1589 8.7434 11.4791C7.81464 12.321 7.6202 14.6268 7.59961 16.8938C7.59961 17.3178 7.59961 17.741 7.59961 18.1635C7.62706 20.4121 7.82837 22.686 8.7434 23.521C9.09798 23.8412 9.42967 24.0425 10.7725 24.1661C12.4493 24.3216 14.7208 24.3445 16.4365 24.3468H18.564C20.2797 24.3468 22.5512 24.3216 24.228 24.1661C25.5686 24.0425 25.9025 23.8412 26.2571 23.521C27.1722 22.6929 27.3735 20.451 27.4009 18.2206C27.4009 17.7402 27.4009 17.2599 27.4009 16.7795C27.3735 14.5491 27.1699 12.3072 26.2571 11.4791ZM15.5604 20.5311V14.652L20.561 17.5001L15.5604 20.5311Z" fill="white"></path>
|
||
<path id="Vector_2_Youtube" d="M17.5006 34.657C26.9761 34.657 34.6575 26.9756 34.6575 17.5001C34.6575 8.02465 26.9761 0.343262 17.5006 0.343262C8.02514 0.343262 0.34375 8.02465 0.34375 17.5001C0.34375 26.9756 8.02514 34.657 17.5006 34.657Z" stroke="white" stroke-width="1.0" stroke-miterlimit="10"></path>
|
||
</g>
|
||
<defs>
|
||
<clipPath id="clip0_1717_1101">
|
||
<rect width="35" height="35" fill="white"></rect>
|
||
</clipPath>
|
||
</defs>
|
||
</svg>
|
||
</a></li>
|
||
</ul>
|
||
</div>
|
||
<div class="col-lg-3 col-12">
|
||
<p class="address_footer text-white">National Library of Medicine<br />
|
||
<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
|
||
Bethesda, MD 20894</a></p>
|
||
</div>
|
||
<div class="col-lg-3 col-12 centered-lg">
|
||
<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
|
||
<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
|
||
<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
|
||
</div>
|
||
<div class="col-lg-3 col-12 centered-lg">
|
||
<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
|
||
<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
|
||
<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
|
||
</div>
|
||
</div>
|
||
<div class="row">
|
||
<div class="col-lg-12 centered-lg">
|
||
<nav class="bottom-links">
|
||
<ul class="mt-3">
|
||
<li>
|
||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
</nav>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
<script type="text/javascript" src="/portal/portal3rc.fcgi/rlib/js/InstrumentOmnitureBaseJS/InstrumentNCBIConfigJS/InstrumentNCBIBaseJS/InstrumentPageStarterJS.js?v=1"> </script>
|
||
<script type="text/javascript" src="/portal/portal3rc.fcgi/static/js/hfjs2.js"> </script>
|
||
</div>
|
||
|
||
</div>
|
||
<div><input name="EntrezSystem2.PEntrez.DbConnector.Db" sid="1" type="hidden" value="medgen" /><input name="EntrezSystem2.PEntrez.DbConnector.LastDb" sid="1" type="hidden" value="medgen" /><input name="EntrezSystem2.PEntrez.DbConnector.Term" sid="1" type="hidden" value="C3277286[conceptid]" /><input name="EntrezSystem2.PEntrez.DbConnector.LastTabCmd" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.DbConnector.LastQueryKey" sid="1" type="hidden" value="37512" /><input name="EntrezSystem2.PEntrez.DbConnector.IdsFromResult" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.DbConnector.LastIdsFromResult" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.DbConnector.LinkName" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.LinkReadableName" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.LinkSrcDb" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.Cmd" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.TabCmd" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.QueryKey" sid="1" type="hidden" /></div>
|
||
<input type="hidden" name="p$a" id="p$a" /><input type="hidden" name="p$l" id="p$l" value="EntrezSystem2" /><input type="hidden" name="p$st" id="p$st" value="medgen" /><input name="SessionId" id="SessionId" value="CE8B5AF87C7FFCB1_0191SID" disabled="disabled" type="hidden" /><input name="Snapshot" id="Snapshot" value="/projects/Phenotype/MedGen/MedGen@6.14" disabled="disabled" type="hidden" /></form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<!-- CE8B5AF87C7FFCB1_0191SID /projects/Phenotype/MedGen/MedGen@6.14 portal107 v4.1.r689238 Tue, Oct 22 2024 16:10:51 -->
|
||
<span id="portal-csrf-token" style="display:none" data-token="CE8B5AF87C7FFCB1_0191SID"></span>
|
||
|
||
|
||
<script type='text/javascript' src='/portal/js/portal.js'></script><script type="text/javascript" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/js/4221766/3812534/4212053/3812535/3781605/4186313/2499590/3758627/4078478/3908752/3423/4018706/3891418/4212356/4078480/4078479/4025341/4076482/31971/35962/2733373/33966/3397055/4001808.js" snapshot="medgen"></script></body>
|
||
</html> |