3550 lines
280 KiB
Text
3550 lines
280 KiB
Text
|
|
|
|
|
|
|
|
|
|
<!DOCTYPE html>
|
|
<html xmlns="http://www.w3.org/1999/xhtml" lang="en-us" xml:lang="en-us" >
|
|
|
|
<head>
|
|
|
|
|
|
|
|
<!--
|
|
################################# CRAWLER WARNING #################################
|
|
|
|
- The terms of service and the robots.txt file disallows crawling of this site,
|
|
please see https://omim.org/help/agreement for more information.
|
|
|
|
- A number of data files are available for download at https://omim.org/downloads.
|
|
|
|
- We have an API which you can learn about at https://omim.org/help/api and register
|
|
for at https://omim.org/api, this provides access to the data in JSON & XML formats.
|
|
|
|
- You should feel free to contact us at https://omim.org/contact to figure out the best
|
|
approach to getting the data you need for your work.
|
|
|
|
- WE WILL AUTOMATICALLY BLOCK YOUR IP ADDRESS IF YOU CRAWL THIS SITE.
|
|
|
|
- WE WILL ALSO AUTOMATICALLY BLOCK SUB-DOMAINS AND ADDRESS RANGES IMPLICATED IN
|
|
DISTRIBUTED CRAWLS OF THIS SITE.
|
|
|
|
################################# CRAWLER WARNING #################################
|
|
-->
|
|
|
|
|
|
|
|
<meta http-equiv="content-type" content="text/html; charset=utf-8" />
|
|
<meta http-equiv="cache-control" content="no-cache" />
|
|
<meta http-equiv="pragma" content="no-cache" />
|
|
<meta name="robots" content="index, follow" />
|
|
|
|
|
|
<meta name="viewport" content="width=device-width, initial-scale=1" />
|
|
<meta http-equiv="X-UA-Compatible" content="IE=edge" />
|
|
|
|
|
|
<meta name="title" content="Online Mendelian Inheritance in Man (OMIM)" />
|
|
<meta name="description" content="Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative
|
|
compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text,
|
|
referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes.
|
|
OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries
|
|
contain copious links to other genetics resources." />
|
|
<meta name="keywords" content="Mendelian Inheritance in Man, OMIM, Mendelian diseases, Mendelian disorders, genetic diseases,
|
|
genetic disorders, genetic disorders in humans, genetic phenotypes, phenotype and genotype, disease models, alleles,
|
|
genes, dna, genetics, dna testing, gene testing, clinical synopsis, medical genetics" />
|
|
<meta name="theme-color" content="#333333" />
|
|
<link rel="icon" href="/static/omim/favicon.png" />
|
|
<link rel="apple-touch-icon" href="/static/omim/favicon.png" />
|
|
<link rel="manifest" href="/static/omim/manifest.json" />
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script id='mimBrowserCapability'>
|
|
function _0x5069(){const _0x4b1387=['91sZIeLc','mimBrowserCapability','15627zshTnf','710004yxXedd','34LxqNYj','match','disconnect','1755955rnzTod','observe','1206216ZRfBWB','575728fqgsYy','webdriver','documentElement','close','open','3086704utbakv','7984143PpiTpt'];_0x5069=function(){return _0x4b1387;};return _0x5069();}function _0xe429(_0x472ead,_0x43eb70){const _0x506916=_0x5069();return _0xe429=function(_0xe42949,_0x1aaefc){_0xe42949=_0xe42949-0x1a9;let _0xe6add8=_0x506916[_0xe42949];return _0xe6add8;},_0xe429(_0x472ead,_0x43eb70);}(function(_0x337daa,_0x401915){const _0x293f03=_0xe429,_0x5811dd=_0x337daa();while(!![]){try{const _0x3dc3a3=parseInt(_0x293f03(0x1b4))/0x1*(-parseInt(_0x293f03(0x1b6))/0x2)+parseInt(_0x293f03(0x1b5))/0x3+parseInt(_0x293f03(0x1b0))/0x4+-parseInt(_0x293f03(0x1b9))/0x5+parseInt(_0x293f03(0x1aa))/0x6+-parseInt(_0x293f03(0x1b2))/0x7*(parseInt(_0x293f03(0x1ab))/0x8)+parseInt(_0x293f03(0x1b1))/0x9;if(_0x3dc3a3===_0x401915)break;else _0x5811dd['push'](_0x5811dd['shift']());}catch(_0x4dd27b){_0x5811dd['push'](_0x5811dd['shift']());}}}(_0x5069,0x84d63),(function(){const _0x9e4c5f=_0xe429,_0x363a26=new MutationObserver(function(){const _0x458b09=_0xe429;if(document!==null){let _0x2f0621=![];navigator[_0x458b09(0x1ac)]!==![]&&(_0x2f0621=!![]);for(const _0x427dda in window){_0x427dda[_0x458b09(0x1b7)](/cdc_[a-z0-9]/ig)&&(_0x2f0621=!![]);}_0x2f0621===!![]?document[_0x458b09(0x1af)]()[_0x458b09(0x1ae)]():(_0x363a26[_0x458b09(0x1b8)](),document['getElementById'](_0x458b09(0x1b3))['remove']());}});_0x363a26[_0x9e4c5f(0x1a9)](document[_0x9e4c5f(0x1ad)],{'childList':!![]});}()));
|
|
</script>
|
|
|
|
|
|
|
|
<link rel='preconnect' href='https://cdn.jsdelivr.net' />
|
|
<link rel='preconnect' href='https://cdnjs.cloudflare.com' />
|
|
|
|
<link rel="preconnect" href="https://www.googletagmanager.com" />
|
|
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery@3.7.1/dist/jquery.min.js" integrity="sha256-/JqT3SQfawRcv/BIHPThkBvs0OEvtFFmqPF/lYI/Cxo=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-migrate@3.5.2/dist/jquery-migrate.js" integrity="sha256-ThFcNr/v1xKVt5cmolJIauUHvtXFOwwqiTP7IbgP8EU=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/js/bootstrap.min.js" integrity="sha256-nuL8/2cJ5NDSSwnKD8VqreErSWHtnEP9E7AySL+1ev4=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap.min.css" integrity="sha256-bZLfwXAP04zRMK2BjiO8iu9pf4FbLqX6zitd+tIvLhE=" crossorigin="anonymous">
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap-theme.min.css" integrity="sha256-8uHMIn1ru0GS5KO+zf7Zccf8Uw12IA5DrdEcmMuWLFM=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/moment@2.29.4/min/moment.min.js" integrity="sha256-80OqMZoXo/w3LuatWvSCub9qKYyyJlK0qnUCYEghBx8=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/js/bootstrap-datetimepicker.min.js" integrity="sha256-dYxUtecag9x4IaB2vUNM34sEso6rWTgEche5J6ahwEQ=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/css/bootstrap-datetimepicker.min.css" integrity="sha256-9FNpuXEYWYfrusiXLO73oIURKAOVzqzkn69cVqgKMRY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.js" integrity="sha256-a+PRq3NbyK3G08Boio9X6+yFiHpTSIrbE7uzZvqmDac=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.css" integrity="sha256-JvdVmxv7Q0LsN1EJo2zc1rACwzatOzkyx11YI4aP9PY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/devbridge-autocomplete@1.4.11/dist/jquery.autocomplete.min.js" integrity="sha256-BNpu3uLkB3SwY3a2H3Ue7WU69QFdSRlJVBrDTnVKjiA=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-validation@1.21.0/dist/jquery.validate.min.js" integrity="sha256-umbTaFxP31Fv6O1itpLS/3+v5fOAWDLOUzlmvOGaKV4=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/js-cookie@3.0.5/dist/js.cookie.min.js" integrity="sha256-WCzAhd2P6gRJF9Hv3oOOd+hFJi/QJbv+Azn4CGB8gfY=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdnjs.cloudflare.com/ajax/libs/ScrollToFixed/1.0.8/jquery-scrolltofixed-min.js" integrity="sha512-ohXbv1eFvjIHMXG/jY057oHdBZ/jhthP1U3jES/nYyFdc9g6xBpjDjKIacGoPG6hY//xVQeqpWx8tNjexXWdqA==" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script async src="https://www.googletagmanager.com/gtag/js?id=G-HMPSQC23JJ"></script>
|
|
<script>
|
|
window.dataLayer = window.dataLayer || [];
|
|
function gtag(){window.dataLayer.push(arguments);}
|
|
gtag("js", new Date());
|
|
gtag("config", "G-HMPSQC23JJ");
|
|
</script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script src="/static/omim/js/site.js?version=Zmk5Y1" integrity="sha256-fi9cXywxCO5p0mU1OSWcMp0DTQB4s8ncFR8j+IO840s="></script>
|
|
|
|
|
|
<link rel="stylesheet" href="/static/omim/css/site.css?version=VGE4MF" integrity="sha256-Ta80Qpm3w1S8kmnN0ornbsZxdfA32R42R4ncsbos0YU=" />
|
|
|
|
|
|
<script src="/static/omim/js/entry/entry.js?version=anMvRU" integrity="sha256-js/EBOBZzGDctUqr1VhnNPzEiA7w3HM5JbFmOj2CW84="></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimBootstrapDeviceSize">
|
|
<div class="visible-xs" data-mim-bootstrap-device-size="xs"></div>
|
|
<div class="visible-sm" data-mim-bootstrap-device-size="sm"></div>
|
|
<div class="visible-md" data-mim-bootstrap-device-size="md"></div>
|
|
<div class="visible-lg" data-mim-bootstrap-device-size="lg"></div>
|
|
</div>
|
|
|
|
|
|
|
|
<title>
|
|
|
|
Entry
|
|
|
|
- #158320 - MUIR-TORRE SYNDROME; MRTES
|
|
|
|
|
|
- OMIM
|
|
|
|
</title>
|
|
|
|
|
|
|
|
</head>
|
|
|
|
<body>
|
|
<div id="mimBody">
|
|
|
|
|
|
|
|
<div id="mimHeader" class="hidden-print">
|
|
|
|
|
|
|
|
<nav class="navbar navbar-inverse navbar-fixed-top mim-navbar-background">
|
|
<div class="container-fluid">
|
|
|
|
<!-- Brand and toggle get grouped for better mobile display -->
|
|
<div class="navbar-header">
|
|
<button type="button" class="navbar-toggle collapsed" data-toggle="collapse" data-target="#mimNavbarCollapse" aria-expanded="false">
|
|
<span class="sr-only"> Toggle navigation </span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
</button>
|
|
<a class="navbar-brand" href="/"><img alt="OMIM" src="/static/omim/icons/OMIM_davinciman.001.png" height="30" width="30"></a>
|
|
</div>
|
|
|
|
<div id="mimNavbarCollapse" class="collapse navbar-collapse">
|
|
|
|
<ul class="nav navbar-nav">
|
|
|
|
|
|
<li>
|
|
<a href="/help/about"><span class="mim-navbar-menu-font"> About </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimStatisticsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Statistics <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="statisticsDropdown">
|
|
<li>
|
|
<a href="/statistics/update"> Update List </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/entry"> Entry Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/geneMap"> Phenotype-Gene Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/paceGraph"> Pace of Gene Discovery Graph </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDownloadsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Downloads <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="downloadsDropdown">
|
|
|
|
<li>
|
|
<a href="/downloads/"> Register for Downloads </a>
|
|
</li>
|
|
<li>
|
|
<a href="/api"> Register for API Access </a>
|
|
</li>
|
|
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="/contact?mimNumber=158320"><span class="mim-navbar-menu-font"> Contact Us </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li>
|
|
|
|
<a href="/mimmatch/">
|
|
|
|
<span class="mim-navbar-menu-font">
|
|
<span class="mim-tip-bottom" qtip_title="<strong>MIMmatch</strong>" qtip_text="MIMmatch is a way to follow OMIM entries that interest you and to find other researchers who may share interest in the same entries. <br /><br />A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.">
|
|
MIMmatch
|
|
</span>
|
|
</span>
|
|
</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDonateDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Donate <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="donateDropdown">
|
|
<li>
|
|
<a href="https://secure.jhu.edu/form/OMIM" target="_blank" onclick="gtag('event', 'mim_donation', {'destination': 'secure.jhu.edu'})"> Donate! </a>
|
|
</li>
|
|
<li>
|
|
<a href="/donors"> Donors </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimHelpDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Help <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="helpDropdown">
|
|
<li>
|
|
<a href="/help/faq"> Frequently Asked Questions (FAQs) </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/search"> Search Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/linking"> Linking Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/api"> API Help </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/external"> External Links </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/agreement"> Use Agreement </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/copyright"> Copyright </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="#" id="mimShowTips" class="mim-tip-hint" title="Click to reveal all tips on the page. You can also hover over individual elements to reveal the tip."><span class="mim-navbar-menu-font"><span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span></span></a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimSearch" class="hidden-print">
|
|
|
|
<div class="container">
|
|
|
|
<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
|
|
|
|
<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
|
|
<input type="hidden" id="mimSearchStart" name="start" value="1" />
|
|
<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
|
|
<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
|
|
<div class="form-group">
|
|
<div class="input-group">
|
|
<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
|
|
<div class="input-group-btn">
|
|
<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
|
|
<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
|
|
<ul class="dropdown-menu dropdown-menu-right">
|
|
<li class="dropdown-header">
|
|
Advanced Search
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/entry"> OMIM </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/geneMap"> Gene Map </a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/history"> Search History </a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
</div>
|
|
</div>
|
|
<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="col-lg-4 col-md-4 col-sm-4 col-xs-4">
|
|
<span class="small">
|
|
|
|
|
|
|
|
|
|
|
|
<span class="hidden-sm hidden-xs">
|
|
|
|
|
|
Display:
|
|
|
|
|
|
<label style="font-weight: normal"><input type="checkbox" id="mimToggleChangeBars" checked /> Change Bars </label>
|
|
|
|
|
|
</span>
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</form>
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
<!-- <div id="mimSearch"> -->
|
|
|
|
|
|
|
|
|
|
<div id="mimContent">
|
|
|
|
|
|
|
|
<div class="container hidden-print">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
|
|
<div id="mimAlertBanner">
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
|
|
|
|
<div id="mimFloatingTocMenu" class="small" role="navigation">
|
|
|
|
<p>
|
|
<span class="h4">#158320</span>
|
|
<br />
|
|
<strong>Table of Contents</strong>
|
|
</p>
|
|
|
|
<nav>
|
|
<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
|
|
|
|
<li role="presentation">
|
|
<a href="#title"><strong>Title</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="/clinicalSynopsis/158320"><strong>Clinical Synopsis</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#text"><strong>Text</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#description">Description</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#clinicalFeatures">Clinical Features</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#diagnosis">Diagnosis</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#mapping">Mapping</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#molecularGenetics">Molecular Genetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#animalModel">Animal Model</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#seeAlso"><strong>See Also</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#references"><strong>References</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#contributors"><strong>Contributors</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#creationDate"><strong>Creation Date</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#editHistory"><strong>Edit History</strong></a>
|
|
</li>
|
|
|
|
</ul>
|
|
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimFloatingLinksMenu">
|
|
|
|
<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
|
|
<h4 class="panel-title">
|
|
<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
|
|
<div style="display: table-row">
|
|
<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
|
|
|
|
<div style="display: table-cell;">External Links</div>
|
|
</div>
|
|
</a>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
|
|
<div id="mimExternalLinksFold" class="collapse in">
|
|
|
|
<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
|
|
|
|
<div style="display: table-cell;">Clinical Resources</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://clinicaltrials.gov/search?cond=MUIR-TORRE SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=543&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1211/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.diseaseinfosearch.org/x/3972" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://medlineplus.gov/genetics/gene/mlh1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=158320[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=587" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Animal Models</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.alliancegenome.org/disease/DOID:0050465" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="http://www.informatics.jax.org/disease/158320" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://wormbase.org/resources/disease/DOID:0050465" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<span>
|
|
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
|
|
|
|
</span>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
|
|
|
|
<div>
|
|
|
|
<a id="title" class="mim-anchor"></a>
|
|
|
|
<div>
|
|
<a id="number" class="mim-anchor"></a>
|
|
<div class="text-right">
|
|
|
|
|
|
|
|
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
|
|
|
|
<strong>SNOMEDCT:</strong> 403824007<br />
|
|
|
|
|
|
|
|
|
|
<strong>ORPHA:</strong> 587<br />
|
|
|
|
|
|
<strong>DO:</strong> 0050465<br />
|
|
|
|
|
|
">ICD+</a>
|
|
|
|
</div>
|
|
<div>
|
|
<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
158320
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
MUIR-TORRE SYNDROME; MRTES
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
CUTANEOUS SEBACEOUS NEOPLASMS AND KERATOACANTHOMAS, MULTIPLE, WITH GASTROINTESTINAL AND OTHER CARCINOMAS
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/2/239?start=-3&limit=10&highlight=239">
|
|
2p21-p16.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Muir-Torre syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/158320"> 158320 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
MSH2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609309"> 609309 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/163?start=-3&limit=10&highlight=163">
|
|
3p22.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Muir-Torre syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/158320"> 158320 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
MLH1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120436"> 120436 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/158320" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/158320" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/158320" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Colonic diverticula (early onset) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834725&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834725</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398050005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398050005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/733657002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">733657002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K57.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K57.30</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/562.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">562.1</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002253" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002253</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Sebaceous gland tumors <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805742&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805742</a>]</span><br /> -
|
|
Keratoacanthomas <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/417264005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">417264005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254662007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254662007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031525" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031525</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEOPLASIA </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Sebaceous carcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54734006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54734006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/307599002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">307599002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0206684&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0206684</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030410" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030410</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030410" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030410</a>]</span><br /> -
|
|
Sebaceous epitheliomas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2939441&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2939441</a>]</span><br /> -
|
|
Sebaceous adenomas <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/307598005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">307598005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78424008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78424008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1368816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1368816</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009720" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009720</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009720" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009720</a>]</span><br /> -
|
|
Basal cell carcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254701007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254701007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1338007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1338007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1547219&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1547219</a>, <a href="https://bioportal.bioontology.org/search?q=C4721806&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4721806</a>, <a href="https://bioportal.bioontology.org/search?q=C0007117&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007117</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002671" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002671</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002671" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002671</a>]</span><br /> -
|
|
Colon cancer <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/269533000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">269533000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/363510005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">363510005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/363406005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">363406005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C18.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C18.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/C18" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C18</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/153.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">153.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/153" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">153</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0346629&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0346629</a>, <a href="https://bioportal.bioontology.org/search?q=C0007102&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007102</a>, <a href="https://bioportal.bioontology.org/search?q=C0699790&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0699790</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003003</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003003</a>]</span><br /> -
|
|
Duodenal carcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254570009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0541912&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0541912</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006771</a>]</span><br /> -
|
|
Laryngeal carcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276975007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276975007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0595989&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0595989</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012118" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012118</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012118" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012118</a>]</span><br /> -
|
|
Benign gastrointestinal tract tumors <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/92118007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">92118007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D13.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D13.99</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/211.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">211.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/211" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">211</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0497538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0497538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006719</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006719</a>]</span><br /> -
|
|
Benign genitourinary tract tumors <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3804991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3804991</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006778" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006778</a>]</span><br /> -
|
|
Malignant gastrointestinal tract tumors <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/428905002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">428905002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C26.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0685938&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0685938</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006749" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006749</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006749" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006749</a>]</span><br /> -
|
|
Malignant genitourinary tract tumors <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834728&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834728</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006758" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006758</a>]</span><br /> -
|
|
Breast cancer <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254838004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254838004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254837009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254837009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C50-C50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C50-C50</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/C50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0678222&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0678222</a>, <a href="https://bioportal.bioontology.org/search?q=C0006142&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0006142</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003002</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003002</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the DNA mismatch repair protein MLH1 gene (MLH1, <a href="/entry/120436#0006">120436.0006</a>)<br /> -
|
|
Caused by mutation in the mutS homolog 2 gene (MSH2, <a href="/entry/609309#0006">609309.0006</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
|
|
|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
|
|
<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimTextFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because of evidence that Muir-Torre syndrome, which is part of the Lynch cancer family syndrome, (see <a href="/entry/120435">120435</a>), can be caused by heterozygous mutation in the MSH2 gene (<a href="/entry/609309">609309</a>) on chromosome 2p21-p16.</p><p>MRTES can also be caused by mutation in the MLH1 gene (<a href="/entry/120436">120436</a>) on chromosome 3p22.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimDescriptionFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<div class="mim-changed mim-change"><p>Muir-Torre syndrome (MRTES) is an autosomal dominant disorder characterized by development of sebaceous gland tumors and skin cancers, including keratoacanthomas and basal cell carcinomas. Affected family members may manifest a wide spectrum of internal malignancies, which include colorectal, endometrial, urologic, and upper gastrointestinal neoplasms. Sebaceous gland tumors, which are rare in the general population, are considered to be the hallmark of MRTES, and may arise prior to the development of other visceral cancers (summary by <a href="#2" class="mim-tip-reference" title="Bapat, B., Xia, L., Madlensky, L., Mitri, A., Tonin, P., Narod, S. A., Gallinger, S. <strong>The genetic basis of Muir-Torre syndrome includes the hMLH1 locus. (Letter)</strong> Am. J. Hum. Genet. 59: 736-739, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8751876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8751876</a>]" pmid="8751876">Bapat et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8751876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p></div>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="clinicalFeatures" class="mim-anchor"></a>
|
|
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>Muir-Torre syndrome represents the association of sebaceous skin tumors with internal malignancy. The Gardner and Peutz-Jeghers syndromes are examples of skin-polyposis syndromes. Polyps of the stomach have been reported with the basal cell nevus syndrome (<a href="/entry/109400">109400</a>). <a href="#21" class="mim-tip-reference" title="Muir, G. G., Bell, A. Y., Barlow, K. A. <strong>Multiple primary carcinomata of the colon, duodenum, and larynx associated with keratoacanthomata of the face.</strong> Brit. J. Surg. 54: 191-195, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6020987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6020987</a>] [<a href="https://doi.org/10.1002/bjs.1800540309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6020987">Muir et al. (1967)</a> described a Maltese male with multiple primary carcinomata of the colon, duodenum, and larynx in association with keratoacanthomata of the face. Although he was one of 22 sibs, including 4 sets of twins, no family history of malignancy was obtained. <a href="#32" class="mim-tip-reference" title="Torre, D. <strong>Multiple sebaceous tumors.</strong> Arch. Derm. 98: 549-551, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5684233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5684233</a>] [<a href="https://doi.org/10.1001/archderm.98.5.549" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5684233">Torre (1968)</a> emphasized the occurrence of multiple sebaceous tumors (sebaceous adenoma) in a patient who had a primary carcinoma of the ampulla of Vater resected at age 50 years and a primary carcinoma of the colon resected at age 53. <a href="#30" class="mim-tip-reference" title="Stewart, W. M., Lauret, P., Hemet, J., Thomine, E., Gueville, R. M. <strong>Kerato-acanthomes multiples et carcinomes visceraux: syndrome de Torre.</strong> Ann. Derm. Venereol. 104: 622-626, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/610516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">610516</a>]" pmid="610516">Stewart et al. (1977)</a> reported a woman who had 11 keratoacanthomata removed over a 21-year period and who also had Bowen disease of the vulva and a carcinoma of the rectum. The cancers, although multiple, are usually relatively indolent. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=610516+5684233+6020987" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#23" class="mim-tip-reference" title="Reiffers, J., Laugier, P., Hunziker, N. <strong>Hyperplasies sebacees, kerato-acanthomes, epitheliomas du visage et cancer du colon: une nouvelle entite?</strong> Dermatologica 153: 23-33, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/992186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">992186</a>]" pmid="992186">Reiffers et al. (1976)</a> presented evidence for autosomal dominant inheritance including male-to-male transmission. The families had characteristics of the Lynch II cancer family syndrome (see NOMENCLATURE in <a href="/entry/120435">120435</a>). <a href="#18" class="mim-tip-reference" title="Lynch, H. T., Lynch, P. M., Pester, J., Fusaro, R. M. <strong>The cancer family syndrome: rare cutaneous phenotypic linkage of Torre's syndrome.</strong> Arch. Intern. Med. 141: 607-611, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7224741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7224741</a>]" pmid="7224741">Lynch et al. (1981)</a> observed sebaceous neoplasms in affected members of cancer families and postulated that the purportedly distinct Muir-Torre syndrome is actually one mode of manifestation of the cancer family syndrome. <a href="#18" class="mim-tip-reference" title="Lynch, H. T., Lynch, P. M., Pester, J., Fusaro, R. M. <strong>The cancer family syndrome: rare cutaneous phenotypic linkage of Torre's syndrome.</strong> Arch. Intern. Med. 141: 607-611, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7224741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7224741</a>]" pmid="7224741">Lynch et al. (1981)</a> expressed doubts that intestinal polyposis is a part of this syndrome. See also <a href="#17" class="mim-tip-reference" title="Lynch, H. T., Fusaro, R. M., Roberts, L., Voorhees, G. J., Lynch, J. F. <strong>Muir-Torre syndrome in several members of a family with a variant of the cancer family syndrome.</strong> Brit. J. Derm. 113: 295-301, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4063166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4063166</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1985.tb02081.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4063166">Lynch et al. (1985)</a>, who reported continuing uncertainty as to the nosologic place of the Muir-Torre syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7224741+4063166+992186" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>That the Muir-Torre phenotype is an expression of the Lynch II cancer family syndrome was supported by the fact that one of the cases described by <a href="#18" class="mim-tip-reference" title="Lynch, H. T., Lynch, P. M., Pester, J., Fusaro, R. M. <strong>The cancer family syndrome: rare cutaneous phenotypic linkage of Torre's syndrome.</strong> Arch. Intern. Med. 141: 607-611, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7224741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7224741</a>]" pmid="7224741">Lynch et al. (1981)</a> was found to be a descendant of Warthin's family G, which is considered to be the first description of the familial cancer syndrome termed 'Lynch II' (<a href="#8" class="mim-tip-reference" title="Finan, M. C., Connolly, S. M. <strong>Sebaceous gland tumors and systemic disease: a clinicopathologic analysis.</strong> Medicine 63: 232-242, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6738344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6738344</a>] [<a href="https://doi.org/10.1097/00005792-198407000-00005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6738344">Finan and Connolly, 1984</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7224741+6738344" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Rothenberg, J., Lambert, W. C., Vail, J. T., Jr., Nemlick, A. S., Schwartz, R. A. <strong>The Muir-Torre (Torre's) syndrome: the significance of a solitary sebaceous tumor.</strong> J. Am. Acad. Derm. 23: 638-640, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2229491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2229491</a>] [<a href="https://doi.org/10.1016/s0190-9622(08)81072-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2229491">Rothenberg et al. (1990)</a> described 2 cases suggesting that a single sebaceous adenoma can be the sole tip-off to the presence of colon cancer in the Muir-Torre syndrome. A 68-year-old woman had a solitary, 2-mm tumor of the forehead. Both she and her mother had had colonic resections for carcinomas. A 50-year-old male physician with a solitary, 6-mm sebaceous adenoma removed from the scalp was investigated for colonic abnormalities and found to have a fungating low-grade adenocarcinoma at the splenic flexure. The man's father had had a colon carcinoma removed at the age of 29 years. <a href="#10" class="mim-tip-reference" title="Guitart, J., McGillis, S. T., Bergfeld, W. F., Tuthill, R. J., Bailin, P. L., Camisa, C. <strong>Muir-Torre syndrome associated with alpha-1-antitrypsin deficiency and cutaneous vasculitis: report of a case with exacerbation of a cutaneous neoplasm during immunosuppressive therapy.</strong> J. Am. Acad. Derm. 24: 875-877, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2050856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2050856</a>] [<a href="https://doi.org/10.1016/0190-9622(91)70137-q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2050856">Guitart et al. (1991)</a> described a case of a 44-year-old man with a keratoacanthoma of the left nasolabial fold; his mother died of gastric carcinoma and his sister of colonic cancer. He and his brother had alpha-1-antitrypsin deficiency (<a href="/entry/613490">613490</a>). The keratoacanthoma developed after immunosuppressive therapy for necrotizing vasculitis. <a href="#31" class="mim-tip-reference" title="Stone, M. S., Duncan, W. C., McGavran, M. H. <strong>Torre's syndrome: exacerbation of cutaneous manifestations with immunosuppression.</strong> J. Am. Acad. Derm. 15: 1101-1103, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3771859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3771859</a>] [<a href="https://doi.org/10.1016/s0190-9622(86)70273-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3771859">Stone et al. (1986)</a> reported a patient with Muir-Torre syndrome in whom exacerbation of the cutaneous lesions occurred during immunosuppression after heart transplant. <a href="#6" class="mim-tip-reference" title="Cohen, P. R. <strong>Muir-Torre syndrome in patients with hematologic malignancies.</strong> Am. J. Hemat. 40: 64-65, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1566750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1566750</a>] [<a href="https://doi.org/10.1002/ajh.2830400114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1566750">Cohen (1992)</a> used the label Muir-Torre syndrome in describing a man with Hodgkin lymphoma who subsequently developed a sebaceous carcinoma of the upper eyelid. <a href="#25" class="mim-tip-reference" title="Rodenas, J. M., Herranz, T., Tercedor, J., Lopez, B., Naranjo, R., Delgado, V. <strong>Muir-Torre syndrome associated with a family history of hyperlipidemia.</strong> J. Am. Acad. Derm. 28: 285-288, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8436639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8436639</a>] [<a href="https://doi.org/10.1016/0190-9622(93)70035-r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8436639">Rodenas et al. (1993)</a> reported a family in which multiple members had the Muir-Torre syndrome and hyperlipidemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2050856+1566750+8436639+2229491+3771859" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Approximately 15% of female patients with Muir-Torre syndrome develop endometrial cancer (<a href="#5" class="mim-tip-reference" title="Cohen, P. R., Kohn, S. R., Kurzrock, R. <strong>Association of sebaceous gland tumors and internal malignancy: the Muir-Torre syndrome.</strong> Am. J. Med. 90: 606-613, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2029018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2029018</a>]" pmid="2029018">Cohen et al., 1991</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2029018" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#29" class="mim-tip-reference" title="Schwartz, R. A., Torre, D. P. <strong>The Muir-Torre syndrome: a 25-year retrospect.</strong> J. Am. Acad. Derm. 33: 90-104, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7601953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7601953</a>] [<a href="https://doi.org/10.1016/0190-9622(95)90017-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7601953">Schwartz and Torre (1995)</a> reviewed the Muir-Torre syndrome defined as the association of certain types of sebaceous neoplasms of the skin, with or without keratoacanthomas, with one or more low-grade visceral malignancies in the absence of other predisposing factors. The sebaceous tumors were relatively uncommon or rare types: sebaceous adenoma, sebaceous epithelioma, basal cell epithelioma with sebaceous differentiation, and sebaceous carcinoma. They suggested that the visceral cancers are often multiple and usually indolent, permitting prolonged survival. Even metastatic disease may respond well to aggressive surgical treatment. The sebaceous cancers in this syndrome, like the visceral malignancies, are less aggressive than their counterparts unassociated with this syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7601953" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Akhtar, S., Oza, K. K., Khan, S. A., Wright, J. <strong>Muir-Torre syndrome: case report of a patient with concurrent jejunal and ureteral cancer and a review of the literature.</strong> J. Am. Acad. Derm. 41: 681-686, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10534628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10534628</a>] [<a href="https://doi.org/10.1016/s0190-9622(99)70001-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10534628">Akhtar et al. (1999)</a> stated that only 205 cases of Muir-Torre syndrome with 399 internal malignancies had been reported. The common presentation was the presence of sebaceous tumors along with a low-grade visceral malignancy. Sebaceous tumors appeared before the internal malignancy in 45 cases (22%), concurrently in 12 (6%), and after the internal malignancy in 114 (56%). In 33 (16%) of the 205 patients, a temporal relationship of the 2 features was not reported. The total number of sebaceous gland carcinomas reported was 44; 17 of 44 were neoplasms of the meibomian gland. Keratoacanthomas were noted in 48 (23%) of 205 patients. Gastrointestinal cancers are the most common internal malignancies (61%), followed by genitourinary (22%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10534628" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Holbach, L. M., von Moller, A., Decker, C., Junemann, A. G. M., Rummelt-Hofmann, C., Ballhausen, W. G. <strong>Loss of fragile histidine triad (FHIT) expression and microsatellite instability in periocular sebaceous gland carcinoma in patients with Muir-Torre syndrome.</strong> Am. J. Ophthal. 134: 147-148, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12095833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12095833</a>] [<a href="https://doi.org/10.1016/s0002-9394(02)01434-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12095833">Holbach et al. (2002)</a> examined biopsy specimens of periocular sebaceous gland carcinoma from 6 patients with Muir-Torre syndrome. They found that the fragile histidine triad protein (FHIT; <a href="/entry/601153">601153</a>) was detectable in just 1 sebaceous gland carcinoma from 1 patient with microsatellite instability. FHIT was undetectable in the remaining 5 sebaceous gland carcinomas, which showed no evidence of microsatellite instability. The authors concluded that inactivation of the FHIT tumor suppressor gene or inactivation of the mismatch-repair system resulting in microsatellite instability might contribute to the development of periocular sebaceous gland carcinoma in Muir-Torre syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12095833" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="diagnosis" class="mim-anchor"></a>
|
|
<h4 href="#mimDiagnosisFold" id="mimDiagnosisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDiagnosisToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Diagnosis</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimDiagnosisFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#22" class="mim-tip-reference" title="Ponti, G., Losi, L., Di Gregorio, C., Roncucci, L., Pedroni, M., Scarselli, A., Benatti, P., Seidenari, S., Pellacani, G., Lembo, L., Rossi, G., Marino, M., Lucci-Cordisco, E., Ponz de Leon, M. <strong>Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas: role of clinical features, microsatellite instability, and immunohistochemistry.</strong> Cancer 103: 1018-1025, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15662714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15662714</a>] [<a href="https://doi.org/10.1002/cncr.20873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15662714">Ponti et al. (2005)</a> concluded that the clinical, biomolecular, and immunohistochemical characteristics of sebaceous skin lesions and keratoacanthomas can be used in screening for families at risk of Muir-Torre syndrome. Through pathology records, they collected 120 patients with sebaceous skin lesions and keratoacanthomas. Seven of the 120 patients were also affected by gastrointestinal tumors, thus meeting the clinical criteria for the disorder. In the Muir-Torre syndrome families, a wide phenotypic variability was evident, both in the spectrum of visceral tumors and in the type of skin lesions. Microsatellite instability was found in 5 patients. A constitutional mutation in the MSH2 gene was found in 1 patient. Lack of expression of MSH2/MSH6 (<a href="/entry/600678">600678</a>) or MLH1 proteins was evident in the skin lesions and in the associated internal malignancies of 3 patients and 2 patients, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15662714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Roberts, M. E., Riegert-Johnson, D. L., Thomas, B. C., Rumilla, K. M., Thomas, C. S., Heckman, M. G., Purcell, J. U., Hanson, N. B., Leppig, K. A., Lim, J., Cappel, M. A. <strong>A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir-Torre variant of Lynch syndrome.</strong> Genet. Med. 16: 711-716, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24603434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24603434</a>] [<a href="https://doi.org/10.1038/gim.2014.19" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24603434">Roberts et al. (2014)</a> developed a scoring system, based on logistic regression analysis, for patients with sebaceous neoplasm to identify those with the highest likelihood of having Muir-Torre syndrome. The final version of the scoring system included variables such as age at presentation of initial sebaceous neoplasm, total number of sebaceous neoplasms, personal history of a Lynch-related cancer, and family history of Lynch-related cancers. Patients with a score of 3 or more were more likely to have Muir-Torre syndrome (28 of 29 patients), whereas those with a score of 2 had intermediate likelihood (12 of 20 patients); no patient with a score of 0 or 1 was diagnosed with Muir-Torre syndrome. <a href="#24" class="mim-tip-reference" title="Roberts, M. E., Riegert-Johnson, D. L., Thomas, B. C., Rumilla, K. M., Thomas, C. S., Heckman, M. G., Purcell, J. U., Hanson, N. B., Leppig, K. A., Lim, J., Cappel, M. A. <strong>A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir-Torre variant of Lynch syndrome.</strong> Genet. Med. 16: 711-716, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24603434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24603434</a>] [<a href="https://doi.org/10.1038/gim.2014.19" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24603434">Roberts et al. (2014)</a> concluded that the Mayo Muir-Torre syndrome risk scoring system appeared to identify whether patients who present with sebaceous neoplasms are in need of further Lynch syndrome evaluation. The authors pointed out that abnormal mismatch repair gene immunohistochemistry of a sebaceous neoplasm is a poor predictor in regard to diagnosing Lynch syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24603434" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="mapping" class="mim-anchor"></a>
|
|
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMappingFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#12" class="mim-tip-reference" title="Hall, N. R., Williams, M. A. T., Murday, V. A., Newton, J. A., Bishop, D. T. <strong>Muir-Torre syndrome: a variant of the cancer family syndrome.</strong> J. Med. Genet. 31: 627-631, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7815421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7815421</a>] [<a href="https://doi.org/10.1136/jmg.31.8.627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7815421">Hall et al. (1994)</a> reported a 5-generation family in which at least 2 persons displayed the Muir-Torre phenotype, while many other family members had tumors consistent with cancer family syndrome. Most of the tumors were gastrointestinal, gynecologic, and urologic, with several persons having multiple synchronous or metachronous primaries. The prognosis appeared to be better than might be expected. <a href="#12" class="mim-tip-reference" title="Hall, N. R., Williams, M. A. T., Murday, V. A., Newton, J. A., Bishop, D. T. <strong>Muir-Torre syndrome: a variant of the cancer family syndrome.</strong> J. Med. Genet. 31: 627-631, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7815421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7815421</a>] [<a href="https://doi.org/10.1136/jmg.31.8.627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7815421">Hall et al. (1994)</a> found that in this and a second Muir-Torre family, the disease locus mapped to 2p in the same region as the Lynch II syndrome, namely to the MSH2 locus. Haplotype analysis of the pedigree showed that the persons with colorectal or endometrial cancer (with or without sebaceous lesions of the skin) shared the same segment of 2p at this locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7815421" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="molecularGenetics" class="mim-anchor"></a>
|
|
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#14" class="mim-tip-reference" title="Kruse, R., Lamberti, C., Wang, Y., Ruelfs, C., Bruns, A., Esche, C., Lehmann, P., Ruzicka, T., Rutten, A., Friedl, W., Propping, P. <strong>Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene?</strong> Hum. Genet. 98: 747-750, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8931714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8931714</a>] [<a href="https://doi.org/10.1007/s004390050298" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8931714">Kruse et al. (1996)</a> identified germline mutations in the MSH2 DNA mismatch repair gene in 2 unrelated Muir-Torre syndrome patients ascertained because of their skin tumors. They suggested that the results, together with published cases of Muir-Torre syndrome, supported the hypothesis that this disorder with its characteristic skin lesions is confined to mutations in the MSH2 gene. They tabulated 4 reported cases in addition to the 2 of their own. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8931714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bapat, B., Xia, L., Madlensky, L., Mitri, A., Tonin, P., Narod, S. A., Gallinger, S. <strong>The genetic basis of Muir-Torre syndrome includes the hMLH1 locus. (Letter)</strong> Am. J. Hum. Genet. 59: 736-739, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8751876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8751876</a>]" pmid="8751876">Bapat et al. (1996)</a> demonstrated that mutation in the MLH1 locus can also underlie the Muir-Torre syndrome (see <a href="/entry/120436#0006">120436.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8751876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>About half of Muir-Torre syndrome cases, defined as the coincidence of at least 1 sebaceous skin tumor and 1 internal malignancy, are affected by colorectal cancer. In a subgroup of MRTES patients, the disease has an underlying DNA mismatch-repair (MMR) defect and thus is allelic to hereditary nonpolyposis colorectal cancer (HNPCC). In 16 MRTES patients with sebaceous skin tumors and colorectal cancer, <a href="#16" class="mim-tip-reference" title="Kruse, R., Rutten, A., Lamberti, C., Hosseiny-Malayeri, H. R., Wang, Y., Ruelfs, C., Jungck, M., Mathiak, M., Ruzicka, T., Hartschuh, W., Bisceglia, M., Friedl, W., Propping, P. <strong>Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria.</strong> Am. J. Hum. Genet. 63: 63-70, 1998. Note: Erratum: Am. J. Hum. Genet. 63: 1252 only, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9634524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9634524</a>] [<a href="https://doi.org/10.1086/301926" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9634524">Kruse et al. (1998)</a> found that all exhibited high genomic instability in at least 1 tumor from the skin or colon. A search for germline mutations in the MSH2 and MLH1 genes in 13 of the patients revealed truncating mutations in 9 (69%): 8 mutations in the MSH2 gene and 1 in the MLH1 gene. Thus, MRTES patients exhibited significantly more mutations in the MHS2 gene than in the MLH1 gene. The subpopulation of MRTES patients who were also affected by colorectal cancer, irrespective of family history and age at onset of tumors are likely to have an underlying DNA MMR defect similar to that for patients with a family history fulfilling the strict clinical criteria for HNPCC. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9634524" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In Muir-Torre syndrome, the vast majority of germline mutations identified have been in MSH2. Microsatellite instability in tumor tissue develops after somatic inactivation of the corresponding second mismatch repair allele ('second hit'). <a href="#15" class="mim-tip-reference" title="Kruse, R., Rutten, A., Hosseiny-Malayeri, H. R., Bisceglia, M., Friedl, W., Propping, P., Ruzicka, T., Mangold, E. <strong>'Second hit' in sebaceous tumors from Muir-Torre patients with germline mutations in MSH2: allele loss is not the preferred mode of inactivation.</strong> J. Invest. Derm. 116: 463-465, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11231323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11231323</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2001.01265.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11231323">Kruse et al. (2001)</a> examined whether allele loss (loss of heterozygosity; LOH) is a frequent mechanism for inactivation of the second MSH2 allele in a sample of 9 microsatellite instability-positive skin tumors from 8 unrelated Muir-Torre patients with known MSH2 germline mutations. Only 1 of the 9 skin tumors exhibited LOH at the MSH2 locus. <a href="#15" class="mim-tip-reference" title="Kruse, R., Rutten, A., Hosseiny-Malayeri, H. R., Bisceglia, M., Friedl, W., Propping, P., Ruzicka, T., Mangold, E. <strong>'Second hit' in sebaceous tumors from Muir-Torre patients with germline mutations in MSH2: allele loss is not the preferred mode of inactivation.</strong> J. Invest. Derm. 116: 463-465, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11231323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11231323</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2001.01265.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11231323">Kruse et al. (2001)</a> concluded that LOH most probably is not the preferred mode of somatic inactivation of the second MSH2 allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11231323" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Barana, D., Cetto, G. L., Oliani, C., van der Klift, H., Wijnen, J., Fodde, R., Dalla Longa, E., Radice, P. <strong>Spectrum of genetic alterations in Muir-Torre syndrome is the same as in HNPCC. (Letter)</strong> Am. J. Med. Genet. 125A: 318-319, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14994245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14994245</a>] [<a href="https://doi.org/10.1002/ajmg.a.20523" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14994245">Barana et al. (2004)</a> reported the first family with Muir-Torre syndrome harboring a large deletion involving exons 1-6 of the MSH2 gene (<a href="/entry/609309#0023">609309.0023</a>). The family had 3 affected individuals in 2 generations. The father had 2 metachronous colon cancers starting at age 53 years, a daughter had a colon and ovarian cancer starting at age 42 years, and a son was affected by an adenoma with a focus of carcinoma at age 47 years. All 3 affected members presented with cutaneous lesions characteristic of MRTES. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14994245" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Mangold, E., Pagenstecher, C., Leister, M., Mathiak, M., Rutten, A., Friedl, W., Propping, P., Ruzicka, T., Kruse, R. <strong>A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. (Letter)</strong> J. Med. Genet. 41: 567-572, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15235030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15235030</a>] [<a href="https://doi.org/10.1136/jmg.2003.012997" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15235030">Mangold et al. (2004)</a> screened for mutations in the MSH2 and MLH1 genes in 41 unrelated index patients diagnosed with Muir-Torre syndrome, most of whom were preselected for mismatch repair deficiency in their tumor tissue. Germline mutations were identified in 27 patients (mutation detection rate of 66%). <a href="#20" class="mim-tip-reference" title="Mangold, E., Pagenstecher, C., Leister, M., Mathiak, M., Rutten, A., Friedl, W., Propping, P., Ruzicka, T., Kruse, R. <strong>A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. (Letter)</strong> J. Med. Genet. 41: 567-572, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15235030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15235030</a>] [<a href="https://doi.org/10.1136/jmg.2003.012997" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15235030">Mangold et al. (2004)</a> noted that 25 (93%) of the mutations were located in MSH2, in contrast to HNPCC patients without the MRTES phenotype, in whom the proportions of MLH1 and MSH2 mutations are almost equal (p less than 0.001). <a href="#20" class="mim-tip-reference" title="Mangold, E., Pagenstecher, C., Leister, M., Mathiak, M., Rutten, A., Friedl, W., Propping, P., Ruzicka, T., Kruse, R. <strong>A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. (Letter)</strong> J. Med. Genet. 41: 567-572, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15235030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15235030</a>] [<a href="https://doi.org/10.1136/jmg.2003.012997" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15235030">Mangold et al. (2004)</a> further noted that 6 (22%) of the mutation carriers did not meet the Bethesda criteria for HNPCC and suggested that sebaceous neoplasm be added to the HNPCC-specific malignancies in the Bethesda guidelines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15235030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="animalModel" class="mim-anchor"></a>
|
|
<h4 href="#mimAnimalModelFold" id="mimAnimalModelToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimAnimalModelToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimAnimalModelFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#9" class="mim-tip-reference" title="Fong, L. Y. Y., Fidanza, V., Zanesi, N., Lock, L. F., Siracusa, L. D., Mancini, R., Siprashvili, Z., Ottey, M., Martin, S. E., Druck, T., McCue, P. A., Croce, C. M., Huebner, K. <strong>Muir-Torre-like syndrome in Fhit-deficient mice.</strong> Proc. Nat. Acad. Sci. 97: 4742-4747, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10758156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10758156</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10758156[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.080063497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10758156">Fong et al. (2000)</a> found that 100% of mice heterozygous for knockout of the Fhit gene developed multiple tumors of the forestomach that were a mixture of adenomas, squamous papillomas, and invasive carcinomas, as well as tumors of sebaceous glands, within 10 weeks after treatment intragastrically with nitrosomethylbenzylamine; adenoma or papilloma of the forestomach had developed in only 25% of the homozygous wildtype (+/+) mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10758156" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="seeAlso" class="mim-anchor"></a>
|
|
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<a href="#Bitran1974" class="mim-tip-reference" title="Bitran, J., Pellettiere, E. V. <strong>Multiple sebaceous gland tumors and internal carcinoma: Torre's syndrome.</strong> Cancer 33: 835-836, 1974.">Bitran and Pellettiere (1974)</a>; <a href="#Fahmy1982" class="mim-tip-reference" title="Fahmy, A., Burgdorf, W. H. C., Schosser, R. H., Pitha, J. <strong>Muir-Torre syndrome: report of a case and reevaluation of the dermatopathologic features.</strong> Cancer 49: 1898-1903, 1982.">Fahmy et al. (1982)</a>; <a href="#Hall1994" class="mim-tip-reference" title="Hall, N. R., Williams, M. A. T., Murday, V. A., Newton, J. A., Bishop, D. T. <strong>Muir-Torre syndrome: a variant of the cancer family syndrome.</strong> J. Med. Genet. 31: 627-631, 1994.">Hall et al.
|
|
(1994)</a>; <a href="#Lynne-Davies1974" class="mim-tip-reference" title="Lynne-Davies, G., Brown, J. <strong>Multiple sebaceous gland tumours associated with polyposis of the colon and bony abnormalities.</strong> Canad. Med. Assoc. J. 110: 1377-1379, 1974.">Lynne-Davies and Brown (1974)</a>; <a href="#Rulon1973" class="mim-tip-reference" title="Rulon, D. B., Helwig, E. B. <strong>Multiple sebaceous neoplasms of the skin: an association with multiple visceral carcinomas, especially of the colon.</strong> Am. J. Clin. Path. 60: 745-752, 1973.">Rulon and Helwig (1973)</a>; <a href="#Schwartz1980" class="mim-tip-reference" title="Schwartz, R. A., Flieger, D. N., Saied, N. K. <strong>The Torre syndrome with gastrointestinal polyposis.</strong> Arch. Derm. 116: 312-314, 1980.">Schwartz et al. (1980)</a>; <a href="#Tschang1976" class="mim-tip-reference" title="Tschang, T.-P., Poulos, E., Ho, C.-K., Kuo, T.-T. <strong>Multiple sebaceous adenomas and internal malignant disease: a case report with chromosomal analysis.</strong> Hum. Path. 7: 589-594, 1976.">Tschang et al. (1976)</a>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="references"class="mim-anchor"></a>
|
|
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
|
|
<ol>
|
|
|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Akhtar1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Akhtar, S., Oza, K. K., Khan, S. A., Wright, J.
|
|
<strong>Muir-Torre syndrome: case report of a patient with concurrent jejunal and ureteral cancer and a review of the literature.</strong>
|
|
J. Am. Acad. Derm. 41: 681-686, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10534628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10534628</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10534628" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0190-9622(99)70001-0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Bapat1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bapat, B., Xia, L., Madlensky, L., Mitri, A., Tonin, P., Narod, S. A., Gallinger, S.
|
|
<strong>The genetic basis of Muir-Torre syndrome includes the hMLH1 locus. (Letter)</strong>
|
|
Am. J. Hum. Genet. 59: 736-739, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8751876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8751876</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8751876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Barana2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Barana, D., Cetto, G. L., Oliani, C., van der Klift, H., Wijnen, J., Fodde, R., Dalla Longa, E., Radice, P.
|
|
<strong>Spectrum of genetic alterations in Muir-Torre syndrome is the same as in HNPCC. (Letter)</strong>
|
|
Am. J. Med. Genet. 125A: 318-319, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14994245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14994245</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14994245" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.a.20523" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Bitran1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bitran, J., Pellettiere, E. V.
|
|
<strong>Multiple sebaceous gland tumors and internal carcinoma: Torre's syndrome.</strong>
|
|
Cancer 33: 835-836, 1974.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4815585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4815585</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4815585" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/1097-0142(197403)33:3<835::aid-cncr2820330331>3.0.co;2-d" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Cohen1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cohen, P. R., Kohn, S. R., Kurzrock, R.
|
|
<strong>Association of sebaceous gland tumors and internal malignancy: the Muir-Torre syndrome.</strong>
|
|
Am. J. Med. 90: 606-613, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2029018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2029018</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2029018" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Cohen1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cohen, P. R.
|
|
<strong>Muir-Torre syndrome in patients with hematologic malignancies.</strong>
|
|
Am. J. Hemat. 40: 64-65, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1566750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1566750</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1566750" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajh.2830400114" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Fahmy1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fahmy, A., Burgdorf, W. H. C., Schosser, R. H., Pitha, J.
|
|
<strong>Muir-Torre syndrome: report of a case and reevaluation of the dermatopathologic features.</strong>
|
|
Cancer 49: 1898-1903, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7074588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7074588</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7074588" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/1097-0142(19820501)49:9<1898::aid-cncr2820490924>3.0.co;2-3" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Finan1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Finan, M. C., Connolly, S. M.
|
|
<strong>Sebaceous gland tumors and systemic disease: a clinicopathologic analysis.</strong>
|
|
Medicine 63: 232-242, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6738344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6738344</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6738344" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1097/00005792-198407000-00005" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Fong2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fong, L. Y. Y., Fidanza, V., Zanesi, N., Lock, L. F., Siracusa, L. D., Mancini, R., Siprashvili, Z., Ottey, M., Martin, S. E., Druck, T., McCue, P. A., Croce, C. M., Huebner, K.
|
|
<strong>Muir-Torre-like syndrome in Fhit-deficient mice.</strong>
|
|
Proc. Nat. Acad. Sci. 97: 4742-4747, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10758156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10758156</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10758156[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10758156" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.080063497" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Guitart1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Guitart, J., McGillis, S. T., Bergfeld, W. F., Tuthill, R. J., Bailin, P. L., Camisa, C.
|
|
<strong>Muir-Torre syndrome associated with alpha-1-antitrypsin deficiency and cutaneous vasculitis: report of a case with exacerbation of a cutaneous neoplasm during immunosuppressive therapy.</strong>
|
|
J. Am. Acad. Derm. 24: 875-877, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2050856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2050856</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2050856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0190-9622(91)70137-q" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Hall1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hall, N. R., Murday, V. A., Chapman, P., Williams, M. A., Burn, J., Finan, P. J., Bishop, D. T.
|
|
<strong>Genetic linkage in Muir-Torre syndrome to the same chromosomal site as cancer family syndrome.</strong>
|
|
Europ. J. Cancer 30A: 180-182, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8155392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8155392</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8155392" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0959-8049(94)90083-3" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Hall1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hall, N. R., Williams, M. A. T., Murday, V. A., Newton, J. A., Bishop, D. T.
|
|
<strong>Muir-Torre syndrome: a variant of the cancer family syndrome.</strong>
|
|
J. Med. Genet. 31: 627-631, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7815421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7815421</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7815421" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.31.8.627" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Holbach2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Holbach, L. M., von Moller, A., Decker, C., Junemann, A. G. M., Rummelt-Hofmann, C., Ballhausen, W. G.
|
|
<strong>Loss of fragile histidine triad (FHIT) expression and microsatellite instability in periocular sebaceous gland carcinoma in patients with Muir-Torre syndrome.</strong>
|
|
Am. J. Ophthal. 134: 147-148, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12095833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12095833</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12095833" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0002-9394(02)01434-4" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Kruse1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kruse, R., Lamberti, C., Wang, Y., Ruelfs, C., Bruns, A., Esche, C., Lehmann, P., Ruzicka, T., Rutten, A., Friedl, W., Propping, P.
|
|
<strong>Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene?</strong>
|
|
Hum. Genet. 98: 747-750, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8931714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8931714</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8931714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s004390050298" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Kruse2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kruse, R., Rutten, A., Hosseiny-Malayeri, H. R., Bisceglia, M., Friedl, W., Propping, P., Ruzicka, T., Mangold, E.
|
|
<strong>'Second hit' in sebaceous tumors from Muir-Torre patients with germline mutations in MSH2: allele loss is not the preferred mode of inactivation.</strong>
|
|
J. Invest. Derm. 116: 463-465, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11231323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11231323</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11231323" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1046/j.1523-1747.2001.01265.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Kruse1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kruse, R., Rutten, A., Lamberti, C., Hosseiny-Malayeri, H. R., Wang, Y., Ruelfs, C., Jungck, M., Mathiak, M., Ruzicka, T., Hartschuh, W., Bisceglia, M., Friedl, W., Propping, P.
|
|
<strong>Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria.</strong>
|
|
Am. J. Hum. Genet. 63: 63-70, 1998. Note: Erratum: Am. J. Hum. Genet. 63: 1252 only, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9634524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9634524</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9634524" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/301926" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Lynch1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lynch, H. T., Fusaro, R. M., Roberts, L., Voorhees, G. J., Lynch, J. F.
|
|
<strong>Muir-Torre syndrome in several members of a family with a variant of the cancer family syndrome.</strong>
|
|
Brit. J. Derm. 113: 295-301, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4063166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4063166</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4063166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1365-2133.1985.tb02081.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Lynch1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lynch, H. T., Lynch, P. M., Pester, J., Fusaro, R. M.
|
|
<strong>The cancer family syndrome: rare cutaneous phenotypic linkage of Torre's syndrome.</strong>
|
|
Arch. Intern. Med. 141: 607-611, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7224741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7224741</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7224741" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Lynne-Davies1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lynne-Davies, G., Brown, J.
|
|
<strong>Multiple sebaceous gland tumours associated with polyposis of the colon and bony abnormalities.</strong>
|
|
Canad. Med. Assoc. J. 110: 1377-1379, 1974.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4545832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4545832</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4545832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Mangold2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mangold, E., Pagenstecher, C., Leister, M., Mathiak, M., Rutten, A., Friedl, W., Propping, P., Ruzicka, T., Kruse, R.
|
|
<strong>A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. (Letter)</strong>
|
|
J. Med. Genet. 41: 567-572, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15235030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15235030</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15235030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.2003.012997" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Muir1967" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Muir, G. G., Bell, A. Y., Barlow, K. A.
|
|
<strong>Multiple primary carcinomata of the colon, duodenum, and larynx associated with keratoacanthomata of the face.</strong>
|
|
Brit. J. Surg. 54: 191-195, 1967.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6020987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6020987</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6020987" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/bjs.1800540309" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Ponti2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ponti, G., Losi, L., Di Gregorio, C., Roncucci, L., Pedroni, M., Scarselli, A., Benatti, P., Seidenari, S., Pellacani, G., Lembo, L., Rossi, G., Marino, M., Lucci-Cordisco, E., Ponz de Leon, M.
|
|
<strong>Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas: role of clinical features, microsatellite instability, and immunohistochemistry.</strong>
|
|
Cancer 103: 1018-1025, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15662714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15662714</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15662714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/cncr.20873" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Reiffers1976" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Reiffers, J., Laugier, P., Hunziker, N.
|
|
<strong>Hyperplasies sebacees, kerato-acanthomes, epitheliomas du visage et cancer du colon: une nouvelle entite?</strong>
|
|
Dermatologica 153: 23-33, 1976.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/992186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">992186</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=992186" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Roberts2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Roberts, M. E., Riegert-Johnson, D. L., Thomas, B. C., Rumilla, K. M., Thomas, C. S., Heckman, M. G., Purcell, J. U., Hanson, N. B., Leppig, K. A., Lim, J., Cappel, M. A.
|
|
<strong>A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir-Torre variant of Lynch syndrome.</strong>
|
|
Genet. Med. 16: 711-716, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24603434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24603434</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24603434" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/gim.2014.19" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Rodenas1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rodenas, J. M., Herranz, T., Tercedor, J., Lopez, B., Naranjo, R., Delgado, V.
|
|
<strong>Muir-Torre syndrome associated with a family history of hyperlipidemia.</strong>
|
|
J. Am. Acad. Derm. 28: 285-288, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8436639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8436639</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8436639" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0190-9622(93)70035-r" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Rothenberg1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rothenberg, J., Lambert, W. C., Vail, J. T., Jr., Nemlick, A. S., Schwartz, R. A.
|
|
<strong>The Muir-Torre (Torre's) syndrome: the significance of a solitary sebaceous tumor.</strong>
|
|
J. Am. Acad. Derm. 23: 638-640, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2229491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2229491</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2229491" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0190-9622(08)81072-9" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Rulon1973" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rulon, D. B., Helwig, E. B.
|
|
<strong>Multiple sebaceous neoplasms of the skin: an association with multiple visceral carcinomas, especially of the colon.</strong>
|
|
Am. J. Clin. Path. 60: 745-752, 1973.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4758274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4758274</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4758274" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/ajcp/60.6.745" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Schwartz1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schwartz, R. A., Flieger, D. N., Saied, N. K.
|
|
<strong>The Torre syndrome with gastrointestinal polyposis.</strong>
|
|
Arch. Derm. 116: 312-314, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7369749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7369749</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7369749" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Schwartz1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schwartz, R. A., Torre, D. P.
|
|
<strong>The Muir-Torre syndrome: a 25-year retrospect.</strong>
|
|
J. Am. Acad. Derm. 33: 90-104, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7601953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7601953</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7601953" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0190-9622(95)90017-9" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Stewart1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Stewart, W. M., Lauret, P., Hemet, J., Thomine, E., Gueville, R. M.
|
|
<strong>Kerato-acanthomes multiples et carcinomes visceraux: syndrome de Torre.</strong>
|
|
Ann. Derm. Venereol. 104: 622-626, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/610516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">610516</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=610516" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Stone1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Stone, M. S., Duncan, W. C., McGavran, M. H.
|
|
<strong>Torre's syndrome: exacerbation of cutaneous manifestations with immunosuppression.</strong>
|
|
J. Am. Acad. Derm. 15: 1101-1103, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3771859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3771859</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3771859" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0190-9622(86)70273-9" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Torre1968" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Torre, D.
|
|
<strong>Multiple sebaceous tumors.</strong>
|
|
Arch. Derm. 98: 549-551, 1968.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5684233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5684233</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5684233" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archderm.98.5.549" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Tschang1976" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tschang, T.-P., Poulos, E., Ho, C.-K., Kuo, T.-T.
|
|
<strong>Multiple sebaceous adenomas and internal malignant disease: a case report with chromosomal analysis.</strong>
|
|
Hum. Path. 7: 589-594, 1976.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/964982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">964982</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=964982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0046-8177(76)80104-9" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="contributors" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="mim-text-font">
|
|
<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Ada Hamosh - updated : 10/10/2014
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseContributors">
|
|
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Marla J. F. O'Neill - updated : 1/18/2008<br>Victor A. McKusick - updated : 8/19/2005<br>Marla J. F. O'Neill - updated : 8/27/2004<br>Victor A. McKusick - updated : 4/6/2004<br>Jane Kelly - updated : 11/4/2002<br>Gary A. Bellus - updated : 3/28/2001<br>Victor A. McKusick - updated : 6/15/2000<br>Victor A. McKusick - updated : 1/14/2000<br>Victor A. McKusick - updated : 7/17/1998
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="creationDate" class="mim-anchor"></a>
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/2/1986
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="editHistory" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
alopez : 12/11/2024
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
|
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 11/15/2022<br>carol : 04/04/2022<br>carol : 11/16/2017<br>alopez : 10/10/2014<br>carol : 4/11/2013<br>carol : 7/20/2011<br>carol : 8/13/2010<br>terry : 6/3/2009<br>wwang : 1/29/2008<br>wwang : 1/29/2008<br>terry : 1/18/2008<br>ckniffin : 1/16/2008<br>carol : 1/4/2008<br>wwang : 8/31/2005<br>wwang : 8/25/2005<br>terry : 8/19/2005<br>mgross : 4/14/2005<br>carol : 9/1/2004<br>terry : 8/27/2004<br>tkritzer : 4/14/2004<br>terry : 4/6/2004<br>cwells : 11/4/2002<br>alopez : 3/28/2001<br>alopez : 3/13/2001<br>alopez : 8/15/2000<br>mcapotos : 7/17/2000<br>mcapotos : 7/11/2000<br>terry : 6/15/2000<br>mcapotos : 2/1/2000<br>mcapotos : 1/31/2000<br>terry : 1/14/2000<br>terry : 5/3/1999<br>carol : 7/21/1998<br>terry : 7/17/1998<br>alopez : 9/11/1997<br>alopez : 6/2/1997<br>terry : 12/26/1996<br>terry : 11/13/1996<br>terry : 10/8/1996<br>mark : 12/13/1995<br>mark : 10/11/1995<br>mimadm : 11/6/1994<br>carol : 9/2/1994<br>carol : 3/12/1993<br>carol : 7/8/1992<br>carol : 3/26/1992
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="container visible-print-block">
|
|
|
|
<div class="row">
|
|
|
|
|
|
|
|
<div class="col-md-8 col-md-offset-1">
|
|
|
|
<div>
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
<strong>#</strong> 158320
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
MUIR-TORRE SYNDROME; MRTES
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div >
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
CUTANEOUS SEBACEOUS NEOPLASMS AND KERATOACANTHOMAS, MULTIPLE, WITH GASTROINTESTINAL AND OTHER CARCINOMAS
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 403824007;
|
|
|
|
|
|
|
|
|
|
<strong>ORPHA:</strong> 587;
|
|
|
|
|
|
<strong>DO:</strong> 0050465;
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
2p21-p16.3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Muir-Torre syndrome
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
158320
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
MSH2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
609309
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
3p22.2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Muir-Torre syndrome
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
158320
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
MLH1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
120436
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because of evidence that Muir-Torre syndrome, which is part of the Lynch cancer family syndrome, (see 120435), can be caused by heterozygous mutation in the MSH2 gene (609309) on chromosome 2p21-p16.</p><p>MRTES can also be caused by mutation in the MLH1 gene (120436) on chromosome 3p22.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Muir-Torre syndrome (MRTES) is an autosomal dominant disorder characterized by development of sebaceous gland tumors and skin cancers, including keratoacanthomas and basal cell carcinomas. Affected family members may manifest a wide spectrum of internal malignancies, which include colorectal, endometrial, urologic, and upper gastrointestinal neoplasms. Sebaceous gland tumors, which are rare in the general population, are considered to be the hallmark of MRTES, and may arise prior to the development of other visceral cancers (summary by Bapat et al., 1996). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Muir-Torre syndrome represents the association of sebaceous skin tumors with internal malignancy. The Gardner and Peutz-Jeghers syndromes are examples of skin-polyposis syndromes. Polyps of the stomach have been reported with the basal cell nevus syndrome (109400). Muir et al. (1967) described a Maltese male with multiple primary carcinomata of the colon, duodenum, and larynx in association with keratoacanthomata of the face. Although he was one of 22 sibs, including 4 sets of twins, no family history of malignancy was obtained. Torre (1968) emphasized the occurrence of multiple sebaceous tumors (sebaceous adenoma) in a patient who had a primary carcinoma of the ampulla of Vater resected at age 50 years and a primary carcinoma of the colon resected at age 53. Stewart et al. (1977) reported a woman who had 11 keratoacanthomata removed over a 21-year period and who also had Bowen disease of the vulva and a carcinoma of the rectum. The cancers, although multiple, are usually relatively indolent. </p><p>Reiffers et al. (1976) presented evidence for autosomal dominant inheritance including male-to-male transmission. The families had characteristics of the Lynch II cancer family syndrome (see NOMENCLATURE in 120435). Lynch et al. (1981) observed sebaceous neoplasms in affected members of cancer families and postulated that the purportedly distinct Muir-Torre syndrome is actually one mode of manifestation of the cancer family syndrome. Lynch et al. (1981) expressed doubts that intestinal polyposis is a part of this syndrome. See also Lynch et al. (1985), who reported continuing uncertainty as to the nosologic place of the Muir-Torre syndrome. </p><p>That the Muir-Torre phenotype is an expression of the Lynch II cancer family syndrome was supported by the fact that one of the cases described by Lynch et al. (1981) was found to be a descendant of Warthin's family G, which is considered to be the first description of the familial cancer syndrome termed 'Lynch II' (Finan and Connolly, 1984). </p><p>Rothenberg et al. (1990) described 2 cases suggesting that a single sebaceous adenoma can be the sole tip-off to the presence of colon cancer in the Muir-Torre syndrome. A 68-year-old woman had a solitary, 2-mm tumor of the forehead. Both she and her mother had had colonic resections for carcinomas. A 50-year-old male physician with a solitary, 6-mm sebaceous adenoma removed from the scalp was investigated for colonic abnormalities and found to have a fungating low-grade adenocarcinoma at the splenic flexure. The man's father had had a colon carcinoma removed at the age of 29 years. Guitart et al. (1991) described a case of a 44-year-old man with a keratoacanthoma of the left nasolabial fold; his mother died of gastric carcinoma and his sister of colonic cancer. He and his brother had alpha-1-antitrypsin deficiency (613490). The keratoacanthoma developed after immunosuppressive therapy for necrotizing vasculitis. Stone et al. (1986) reported a patient with Muir-Torre syndrome in whom exacerbation of the cutaneous lesions occurred during immunosuppression after heart transplant. Cohen (1992) used the label Muir-Torre syndrome in describing a man with Hodgkin lymphoma who subsequently developed a sebaceous carcinoma of the upper eyelid. Rodenas et al. (1993) reported a family in which multiple members had the Muir-Torre syndrome and hyperlipidemia. </p><p>Approximately 15% of female patients with Muir-Torre syndrome develop endometrial cancer (Cohen et al., 1991). </p><p>Schwartz and Torre (1995) reviewed the Muir-Torre syndrome defined as the association of certain types of sebaceous neoplasms of the skin, with or without keratoacanthomas, with one or more low-grade visceral malignancies in the absence of other predisposing factors. The sebaceous tumors were relatively uncommon or rare types: sebaceous adenoma, sebaceous epithelioma, basal cell epithelioma with sebaceous differentiation, and sebaceous carcinoma. They suggested that the visceral cancers are often multiple and usually indolent, permitting prolonged survival. Even metastatic disease may respond well to aggressive surgical treatment. The sebaceous cancers in this syndrome, like the visceral malignancies, are less aggressive than their counterparts unassociated with this syndrome. </p><p>Akhtar et al. (1999) stated that only 205 cases of Muir-Torre syndrome with 399 internal malignancies had been reported. The common presentation was the presence of sebaceous tumors along with a low-grade visceral malignancy. Sebaceous tumors appeared before the internal malignancy in 45 cases (22%), concurrently in 12 (6%), and after the internal malignancy in 114 (56%). In 33 (16%) of the 205 patients, a temporal relationship of the 2 features was not reported. The total number of sebaceous gland carcinomas reported was 44; 17 of 44 were neoplasms of the meibomian gland. Keratoacanthomas were noted in 48 (23%) of 205 patients. Gastrointestinal cancers are the most common internal malignancies (61%), followed by genitourinary (22%). </p><p>Holbach et al. (2002) examined biopsy specimens of periocular sebaceous gland carcinoma from 6 patients with Muir-Torre syndrome. They found that the fragile histidine triad protein (FHIT; 601153) was detectable in just 1 sebaceous gland carcinoma from 1 patient with microsatellite instability. FHIT was undetectable in the remaining 5 sebaceous gland carcinomas, which showed no evidence of microsatellite instability. The authors concluded that inactivation of the FHIT tumor suppressor gene or inactivation of the mismatch-repair system resulting in microsatellite instability might contribute to the development of periocular sebaceous gland carcinoma in Muir-Torre syndrome. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Diagnosis</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Ponti et al. (2005) concluded that the clinical, biomolecular, and immunohistochemical characteristics of sebaceous skin lesions and keratoacanthomas can be used in screening for families at risk of Muir-Torre syndrome. Through pathology records, they collected 120 patients with sebaceous skin lesions and keratoacanthomas. Seven of the 120 patients were also affected by gastrointestinal tumors, thus meeting the clinical criteria for the disorder. In the Muir-Torre syndrome families, a wide phenotypic variability was evident, both in the spectrum of visceral tumors and in the type of skin lesions. Microsatellite instability was found in 5 patients. A constitutional mutation in the MSH2 gene was found in 1 patient. Lack of expression of MSH2/MSH6 (600678) or MLH1 proteins was evident in the skin lesions and in the associated internal malignancies of 3 patients and 2 patients, respectively. </p><p>Roberts et al. (2014) developed a scoring system, based on logistic regression analysis, for patients with sebaceous neoplasm to identify those with the highest likelihood of having Muir-Torre syndrome. The final version of the scoring system included variables such as age at presentation of initial sebaceous neoplasm, total number of sebaceous neoplasms, personal history of a Lynch-related cancer, and family history of Lynch-related cancers. Patients with a score of 3 or more were more likely to have Muir-Torre syndrome (28 of 29 patients), whereas those with a score of 2 had intermediate likelihood (12 of 20 patients); no patient with a score of 0 or 1 was diagnosed with Muir-Torre syndrome. Roberts et al. (2014) concluded that the Mayo Muir-Torre syndrome risk scoring system appeared to identify whether patients who present with sebaceous neoplasms are in need of further Lynch syndrome evaluation. The authors pointed out that abnormal mismatch repair gene immunohistochemistry of a sebaceous neoplasm is a poor predictor in regard to diagnosing Lynch syndrome. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Hall et al. (1994) reported a 5-generation family in which at least 2 persons displayed the Muir-Torre phenotype, while many other family members had tumors consistent with cancer family syndrome. Most of the tumors were gastrointestinal, gynecologic, and urologic, with several persons having multiple synchronous or metachronous primaries. The prognosis appeared to be better than might be expected. Hall et al. (1994) found that in this and a second Muir-Torre family, the disease locus mapped to 2p in the same region as the Lynch II syndrome, namely to the MSH2 locus. Haplotype analysis of the pedigree showed that the persons with colorectal or endometrial cancer (with or without sebaceous lesions of the skin) shared the same segment of 2p at this locus. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Kruse et al. (1996) identified germline mutations in the MSH2 DNA mismatch repair gene in 2 unrelated Muir-Torre syndrome patients ascertained because of their skin tumors. They suggested that the results, together with published cases of Muir-Torre syndrome, supported the hypothesis that this disorder with its characteristic skin lesions is confined to mutations in the MSH2 gene. They tabulated 4 reported cases in addition to the 2 of their own. </p><p>Bapat et al. (1996) demonstrated that mutation in the MLH1 locus can also underlie the Muir-Torre syndrome (see 120436.0006). </p><p>About half of Muir-Torre syndrome cases, defined as the coincidence of at least 1 sebaceous skin tumor and 1 internal malignancy, are affected by colorectal cancer. In a subgroup of MRTES patients, the disease has an underlying DNA mismatch-repair (MMR) defect and thus is allelic to hereditary nonpolyposis colorectal cancer (HNPCC). In 16 MRTES patients with sebaceous skin tumors and colorectal cancer, Kruse et al. (1998) found that all exhibited high genomic instability in at least 1 tumor from the skin or colon. A search for germline mutations in the MSH2 and MLH1 genes in 13 of the patients revealed truncating mutations in 9 (69%): 8 mutations in the MSH2 gene and 1 in the MLH1 gene. Thus, MRTES patients exhibited significantly more mutations in the MHS2 gene than in the MLH1 gene. The subpopulation of MRTES patients who were also affected by colorectal cancer, irrespective of family history and age at onset of tumors are likely to have an underlying DNA MMR defect similar to that for patients with a family history fulfilling the strict clinical criteria for HNPCC. </p><p>In Muir-Torre syndrome, the vast majority of germline mutations identified have been in MSH2. Microsatellite instability in tumor tissue develops after somatic inactivation of the corresponding second mismatch repair allele ('second hit'). Kruse et al. (2001) examined whether allele loss (loss of heterozygosity; LOH) is a frequent mechanism for inactivation of the second MSH2 allele in a sample of 9 microsatellite instability-positive skin tumors from 8 unrelated Muir-Torre patients with known MSH2 germline mutations. Only 1 of the 9 skin tumors exhibited LOH at the MSH2 locus. Kruse et al. (2001) concluded that LOH most probably is not the preferred mode of somatic inactivation of the second MSH2 allele. </p><p>Barana et al. (2004) reported the first family with Muir-Torre syndrome harboring a large deletion involving exons 1-6 of the MSH2 gene (609309.0023). The family had 3 affected individuals in 2 generations. The father had 2 metachronous colon cancers starting at age 53 years, a daughter had a colon and ovarian cancer starting at age 42 years, and a son was affected by an adenoma with a focus of carcinoma at age 47 years. All 3 affected members presented with cutaneous lesions characteristic of MRTES. </p><p>Mangold et al. (2004) screened for mutations in the MSH2 and MLH1 genes in 41 unrelated index patients diagnosed with Muir-Torre syndrome, most of whom were preselected for mismatch repair deficiency in their tumor tissue. Germline mutations were identified in 27 patients (mutation detection rate of 66%). Mangold et al. (2004) noted that 25 (93%) of the mutations were located in MSH2, in contrast to HNPCC patients without the MRTES phenotype, in whom the proportions of MLH1 and MSH2 mutations are almost equal (p less than 0.001). Mangold et al. (2004) further noted that 6 (22%) of the mutation carriers did not meet the Bethesda criteria for HNPCC and suggested that sebaceous neoplasm be added to the HNPCC-specific malignancies in the Bethesda guidelines. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Fong et al. (2000) found that 100% of mice heterozygous for knockout of the Fhit gene developed multiple tumors of the forestomach that were a mixture of adenomas, squamous papillomas, and invasive carcinomas, as well as tumors of sebaceous glands, within 10 weeks after treatment intragastrically with nitrosomethylbenzylamine; adenoma or papilloma of the forestomach had developed in only 25% of the homozygous wildtype (+/+) mice. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Bitran and Pellettiere (1974); Fahmy et al. (1982); Hall et al.
|
|
(1994); Lynne-Davies and Brown (1974); Rulon and Helwig (1973);
|
|
Schwartz et al. (1980); Tschang et al. (1976)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Akhtar, S., Oza, K. K., Khan, S. A., Wright, J.
|
|
<strong>Muir-Torre syndrome: case report of a patient with concurrent jejunal and ureteral cancer and a review of the literature.</strong>
|
|
J. Am. Acad. Derm. 41: 681-686, 1999.
|
|
|
|
|
|
[PubMed: 10534628]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0190-9622(99)70001-0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bapat, B., Xia, L., Madlensky, L., Mitri, A., Tonin, P., Narod, S. A., Gallinger, S.
|
|
<strong>The genetic basis of Muir-Torre syndrome includes the hMLH1 locus. (Letter)</strong>
|
|
Am. J. Hum. Genet. 59: 736-739, 1996.
|
|
|
|
|
|
[PubMed: 8751876]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Barana, D., Cetto, G. L., Oliani, C., van der Klift, H., Wijnen, J., Fodde, R., Dalla Longa, E., Radice, P.
|
|
<strong>Spectrum of genetic alterations in Muir-Torre syndrome is the same as in HNPCC. (Letter)</strong>
|
|
Am. J. Med. Genet. 125A: 318-319, 2004.
|
|
|
|
|
|
[PubMed: 14994245]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.20523]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bitran, J., Pellettiere, E. V.
|
|
<strong>Multiple sebaceous gland tumors and internal carcinoma: Torre's syndrome.</strong>
|
|
Cancer 33: 835-836, 1974.
|
|
|
|
|
|
[PubMed: 4815585]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/1097-0142(197403)33:3<835::aid-cncr2820330331>3.0.co;2-d]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cohen, P. R., Kohn, S. R., Kurzrock, R.
|
|
<strong>Association of sebaceous gland tumors and internal malignancy: the Muir-Torre syndrome.</strong>
|
|
Am. J. Med. 90: 606-613, 1991.
|
|
|
|
|
|
[PubMed: 2029018]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cohen, P. R.
|
|
<strong>Muir-Torre syndrome in patients with hematologic malignancies.</strong>
|
|
Am. J. Hemat. 40: 64-65, 1992.
|
|
|
|
|
|
[PubMed: 1566750]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajh.2830400114]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fahmy, A., Burgdorf, W. H. C., Schosser, R. H., Pitha, J.
|
|
<strong>Muir-Torre syndrome: report of a case and reevaluation of the dermatopathologic features.</strong>
|
|
Cancer 49: 1898-1903, 1982.
|
|
|
|
|
|
[PubMed: 7074588]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/1097-0142(19820501)49:9<1898::aid-cncr2820490924>3.0.co;2-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Finan, M. C., Connolly, S. M.
|
|
<strong>Sebaceous gland tumors and systemic disease: a clinicopathologic analysis.</strong>
|
|
Medicine 63: 232-242, 1984.
|
|
|
|
|
|
[PubMed: 6738344]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/00005792-198407000-00005]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fong, L. Y. Y., Fidanza, V., Zanesi, N., Lock, L. F., Siracusa, L. D., Mancini, R., Siprashvili, Z., Ottey, M., Martin, S. E., Druck, T., McCue, P. A., Croce, C. M., Huebner, K.
|
|
<strong>Muir-Torre-like syndrome in Fhit-deficient mice.</strong>
|
|
Proc. Nat. Acad. Sci. 97: 4742-4747, 2000.
|
|
|
|
|
|
[PubMed: 10758156]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.080063497]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Guitart, J., McGillis, S. T., Bergfeld, W. F., Tuthill, R. J., Bailin, P. L., Camisa, C.
|
|
<strong>Muir-Torre syndrome associated with alpha-1-antitrypsin deficiency and cutaneous vasculitis: report of a case with exacerbation of a cutaneous neoplasm during immunosuppressive therapy.</strong>
|
|
J. Am. Acad. Derm. 24: 875-877, 1991.
|
|
|
|
|
|
[PubMed: 2050856]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0190-9622(91)70137-q]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hall, N. R., Murday, V. A., Chapman, P., Williams, M. A., Burn, J., Finan, P. J., Bishop, D. T.
|
|
<strong>Genetic linkage in Muir-Torre syndrome to the same chromosomal site as cancer family syndrome.</strong>
|
|
Europ. J. Cancer 30A: 180-182, 1994.
|
|
|
|
|
|
[PubMed: 8155392]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0959-8049(94)90083-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hall, N. R., Williams, M. A. T., Murday, V. A., Newton, J. A., Bishop, D. T.
|
|
<strong>Muir-Torre syndrome: a variant of the cancer family syndrome.</strong>
|
|
J. Med. Genet. 31: 627-631, 1994.
|
|
|
|
|
|
[PubMed: 7815421]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.31.8.627]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Holbach, L. M., von Moller, A., Decker, C., Junemann, A. G. M., Rummelt-Hofmann, C., Ballhausen, W. G.
|
|
<strong>Loss of fragile histidine triad (FHIT) expression and microsatellite instability in periocular sebaceous gland carcinoma in patients with Muir-Torre syndrome.</strong>
|
|
Am. J. Ophthal. 134: 147-148, 2002.
|
|
|
|
|
|
[PubMed: 12095833]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0002-9394(02)01434-4]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kruse, R., Lamberti, C., Wang, Y., Ruelfs, C., Bruns, A., Esche, C., Lehmann, P., Ruzicka, T., Rutten, A., Friedl, W., Propping, P.
|
|
<strong>Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene?</strong>
|
|
Hum. Genet. 98: 747-750, 1996.
|
|
|
|
|
|
[PubMed: 8931714]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004390050298]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kruse, R., Rutten, A., Hosseiny-Malayeri, H. R., Bisceglia, M., Friedl, W., Propping, P., Ruzicka, T., Mangold, E.
|
|
<strong>'Second hit' in sebaceous tumors from Muir-Torre patients with germline mutations in MSH2: allele loss is not the preferred mode of inactivation.</strong>
|
|
J. Invest. Derm. 116: 463-465, 2001.
|
|
|
|
|
|
[PubMed: 11231323]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1046/j.1523-1747.2001.01265.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kruse, R., Rutten, A., Lamberti, C., Hosseiny-Malayeri, H. R., Wang, Y., Ruelfs, C., Jungck, M., Mathiak, M., Ruzicka, T., Hartschuh, W., Bisceglia, M., Friedl, W., Propping, P.
|
|
<strong>Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria.</strong>
|
|
Am. J. Hum. Genet. 63: 63-70, 1998. Note: Erratum: Am. J. Hum. Genet. 63: 1252 only, 1998.
|
|
|
|
|
|
[PubMed: 9634524]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/301926]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lynch, H. T., Fusaro, R. M., Roberts, L., Voorhees, G. J., Lynch, J. F.
|
|
<strong>Muir-Torre syndrome in several members of a family with a variant of the cancer family syndrome.</strong>
|
|
Brit. J. Derm. 113: 295-301, 1985.
|
|
|
|
|
|
[PubMed: 4063166]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1365-2133.1985.tb02081.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lynch, H. T., Lynch, P. M., Pester, J., Fusaro, R. M.
|
|
<strong>The cancer family syndrome: rare cutaneous phenotypic linkage of Torre's syndrome.</strong>
|
|
Arch. Intern. Med. 141: 607-611, 1981.
|
|
|
|
|
|
[PubMed: 7224741]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lynne-Davies, G., Brown, J.
|
|
<strong>Multiple sebaceous gland tumours associated with polyposis of the colon and bony abnormalities.</strong>
|
|
Canad. Med. Assoc. J. 110: 1377-1379, 1974.
|
|
|
|
|
|
[PubMed: 4545832]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mangold, E., Pagenstecher, C., Leister, M., Mathiak, M., Rutten, A., Friedl, W., Propping, P., Ruzicka, T., Kruse, R.
|
|
<strong>A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. (Letter)</strong>
|
|
J. Med. Genet. 41: 567-572, 2004.
|
|
|
|
|
|
[PubMed: 15235030]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.2003.012997]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Muir, G. G., Bell, A. Y., Barlow, K. A.
|
|
<strong>Multiple primary carcinomata of the colon, duodenum, and larynx associated with keratoacanthomata of the face.</strong>
|
|
Brit. J. Surg. 54: 191-195, 1967.
|
|
|
|
|
|
[PubMed: 6020987]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/bjs.1800540309]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ponti, G., Losi, L., Di Gregorio, C., Roncucci, L., Pedroni, M., Scarselli, A., Benatti, P., Seidenari, S., Pellacani, G., Lembo, L., Rossi, G., Marino, M., Lucci-Cordisco, E., Ponz de Leon, M.
|
|
<strong>Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas: role of clinical features, microsatellite instability, and immunohistochemistry.</strong>
|
|
Cancer 103: 1018-1025, 2005.
|
|
|
|
|
|
[PubMed: 15662714]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/cncr.20873]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Reiffers, J., Laugier, P., Hunziker, N.
|
|
<strong>Hyperplasies sebacees, kerato-acanthomes, epitheliomas du visage et cancer du colon: une nouvelle entite?</strong>
|
|
Dermatologica 153: 23-33, 1976.
|
|
|
|
|
|
[PubMed: 992186]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Roberts, M. E., Riegert-Johnson, D. L., Thomas, B. C., Rumilla, K. M., Thomas, C. S., Heckman, M. G., Purcell, J. U., Hanson, N. B., Leppig, K. A., Lim, J., Cappel, M. A.
|
|
<strong>A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir-Torre variant of Lynch syndrome.</strong>
|
|
Genet. Med. 16: 711-716, 2014.
|
|
|
|
|
|
[PubMed: 24603434]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/gim.2014.19]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rodenas, J. M., Herranz, T., Tercedor, J., Lopez, B., Naranjo, R., Delgado, V.
|
|
<strong>Muir-Torre syndrome associated with a family history of hyperlipidemia.</strong>
|
|
J. Am. Acad. Derm. 28: 285-288, 1993.
|
|
|
|
|
|
[PubMed: 8436639]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0190-9622(93)70035-r]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rothenberg, J., Lambert, W. C., Vail, J. T., Jr., Nemlick, A. S., Schwartz, R. A.
|
|
<strong>The Muir-Torre (Torre's) syndrome: the significance of a solitary sebaceous tumor.</strong>
|
|
J. Am. Acad. Derm. 23: 638-640, 1990.
|
|
|
|
|
|
[PubMed: 2229491]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0190-9622(08)81072-9]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rulon, D. B., Helwig, E. B.
|
|
<strong>Multiple sebaceous neoplasms of the skin: an association with multiple visceral carcinomas, especially of the colon.</strong>
|
|
Am. J. Clin. Path. 60: 745-752, 1973.
|
|
|
|
|
|
[PubMed: 4758274]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/ajcp/60.6.745]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schwartz, R. A., Flieger, D. N., Saied, N. K.
|
|
<strong>The Torre syndrome with gastrointestinal polyposis.</strong>
|
|
Arch. Derm. 116: 312-314, 1980.
|
|
|
|
|
|
[PubMed: 7369749]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schwartz, R. A., Torre, D. P.
|
|
<strong>The Muir-Torre syndrome: a 25-year retrospect.</strong>
|
|
J. Am. Acad. Derm. 33: 90-104, 1995.
|
|
|
|
|
|
[PubMed: 7601953]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0190-9622(95)90017-9]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Stewart, W. M., Lauret, P., Hemet, J., Thomine, E., Gueville, R. M.
|
|
<strong>Kerato-acanthomes multiples et carcinomes visceraux: syndrome de Torre.</strong>
|
|
Ann. Derm. Venereol. 104: 622-626, 1977.
|
|
|
|
|
|
[PubMed: 610516]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Stone, M. S., Duncan, W. C., McGavran, M. H.
|
|
<strong>Torre's syndrome: exacerbation of cutaneous manifestations with immunosuppression.</strong>
|
|
J. Am. Acad. Derm. 15: 1101-1103, 1986.
|
|
|
|
|
|
[PubMed: 3771859]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0190-9622(86)70273-9]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Torre, D.
|
|
<strong>Multiple sebaceous tumors.</strong>
|
|
Arch. Derm. 98: 549-551, 1968.
|
|
|
|
|
|
[PubMed: 5684233]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archderm.98.5.549]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tschang, T.-P., Poulos, E., Ho, C.-K., Kuo, T.-T.
|
|
<strong>Multiple sebaceous adenomas and internal malignant disease: a case report with chromosomal analysis.</strong>
|
|
Hum. Path. 7: 589-594, 1976.
|
|
|
|
|
|
[PubMed: 964982]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0046-8177(76)80104-9]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Ada Hamosh - updated : 10/10/2014<br>Marla J. F. O'Neill - updated : 1/18/2008<br>Victor A. McKusick - updated : 8/19/2005<br>Marla J. F. O'Neill - updated : 8/27/2004<br>Victor A. McKusick - updated : 4/6/2004<br>Jane Kelly - updated : 11/4/2002<br>Gary A. Bellus - updated : 3/28/2001<br>Victor A. McKusick - updated : 6/15/2000<br>Victor A. McKusick - updated : 1/14/2000<br>Victor A. McKusick - updated : 7/17/1998
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/2/1986
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Edit History:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
alopez : 12/11/2024<br>carol : 11/15/2022<br>carol : 04/04/2022<br>carol : 11/16/2017<br>alopez : 10/10/2014<br>carol : 4/11/2013<br>carol : 7/20/2011<br>carol : 8/13/2010<br>terry : 6/3/2009<br>wwang : 1/29/2008<br>wwang : 1/29/2008<br>terry : 1/18/2008<br>ckniffin : 1/16/2008<br>carol : 1/4/2008<br>wwang : 8/31/2005<br>wwang : 8/25/2005<br>terry : 8/19/2005<br>mgross : 4/14/2005<br>carol : 9/1/2004<br>terry : 8/27/2004<br>tkritzer : 4/14/2004<br>terry : 4/6/2004<br>cwells : 11/4/2002<br>alopez : 3/28/2001<br>alopez : 3/13/2001<br>alopez : 8/15/2000<br>mcapotos : 7/17/2000<br>mcapotos : 7/11/2000<br>terry : 6/15/2000<br>mcapotos : 2/1/2000<br>mcapotos : 1/31/2000<br>terry : 1/14/2000<br>terry : 5/3/1999<br>carol : 7/21/1998<br>terry : 7/17/1998<br>alopez : 9/11/1997<br>alopez : 6/2/1997<br>terry : 12/26/1996<br>terry : 11/13/1996<br>terry : 10/8/1996<br>mark : 12/13/1995<br>mark : 10/11/1995<br>mimadm : 11/6/1994<br>carol : 9/2/1994<br>carol : 3/12/1993<br>carol : 7/8/1992<br>carol : 3/26/1992
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div id="mimFooter">
|
|
|
|
|
|
<div class="container ">
|
|
<div class="row">
|
|
<br />
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="hidden-print mim-footer">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="visible-print-block mim-footer" style="position: relative;">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
<br />
|
|
Printed: March 5, 2025
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="modal fade" id="mimDonationPopupModal" tabindex="-1" role="dialog" aria-labelledby="mimDonationPopupModalTitle">
|
|
<div class="modal-dialog" role="document">
|
|
<div class="modal-content">
|
|
<div class="modal-header">
|
|
<button type="button" id="mimDonationPopupCancel" class="close" data-dismiss="modal" aria-label="Close"><span aria-hidden="true">×</span></button>
|
|
<h4 class="modal-title" id="mimDonationPopupModalTitle">
|
|
OMIM Donation:
|
|
</h4>
|
|
</div>
|
|
<div class="modal-body">
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Dear OMIM User,
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
To ensure long-term funding for the OMIM project, we have diversified
|
|
our revenue stream. We are determined to keep this website freely
|
|
accessible. Unfortunately, it is not free to produce. Expert curators
|
|
review the literature and organize it to facilitate your work. Over 90%
|
|
of the OMIM's operating expenses go to salary support for MD and PhD
|
|
science writers and biocurators. Please join your colleagues by making a
|
|
donation now and again in the future. Donations are an important
|
|
component of our efforts to ensure long-term funding to provide you the
|
|
information that you need at your fingertips.
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Thank you in advance for your generous support, <br />
|
|
Ada Hamosh, MD, MPH <br />
|
|
Scientific Director, OMIM <br />
|
|
</p>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div class="modal-footer">
|
|
<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
</body>
|
|
|
|
</html>
|
|
|
|
|