publicdata/nih-gov
1
0
Fork 0
Code Issues Pull requests Projects Releases Packages Wiki Activity Actions
nih-gov/www.ncbi.nlm.nih.gov/omim/168000

5094 lines
437 KiB
Text
Raw Permalink Blame History

<!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
- #168000 - PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 1; PPGL1
- 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=168000"><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>
</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">#168000</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/168000"><strong>Clinical Synopsis</strong></a>
</li>
<li role="presentation">
<a href="/phenotypicSeries/PS168000"> <strong>Phenotypic Series</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="#inheritance">Inheritance</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="#heterogeneity">Heterogeneity</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#populationGenetics">Population Genetics</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#nomenclature">Nomenclature</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#history">History</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;">&#9660;</div>
&nbsp;
<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;">&#9660;</div>
&nbsp;
<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=PHEOCHROMOCYTOMA/PARAGANGLIOMA 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=8775&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/NBK1548/" 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/5578" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=168000[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=29072" 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;">&#9658;</div>
&nbsp;
<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:0050773" 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/168000" 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:0050773" 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.">
&nbsp;
</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> 127030001, 302834008, 51747000<br />
<strong>ORPHA:</strong> 29072<br />
<strong>DO:</strong> 0050773<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>
168000
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 1; PPGL1
</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">
PARAGANGLIOMAS 1; PGL1<br />
PARAGANGLIOMAS, FAMILIAL, 1<br />
PARAGANGLIOMATA; PGL<br />
GLOMUS TUMORS, FAMILIAL, 1<br />
CHEMODECTOMAS<br />
CAROTID BODY TUMORS; CBT1<br />
GLOMUS JUGULARE TUMORS<br />
PARAGANGLIOMA, CAROTID BODY<br />
PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1
</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/11/930?start=-3&limit=10&highlight=930">
11q23.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Pheochromocytoma/paraganglioma syndrome 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/168000"> 168000 </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">
SDHD
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602690"> 602690 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/168000" 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>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS168000" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<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/168000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/168000" 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> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pulsatile tinnitus (tympanic paraganglioma) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854340&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854340</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/232322006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">232322006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H93.A" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H93.A</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008629</a>]</span><br /> -
Conductive hearing loss (in a subset of patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44057004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44057004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018777&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018777</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000405" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000405</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000405" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000405</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Palpitations (with pheochromocytoma) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854346</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80313002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80313002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R00.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R00.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/785.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">785.1</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001962</a>]</span><br /> -
Tachycardia (with pheochromocytoma) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854347&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854347</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86651002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86651002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3424008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3424008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R00.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R00.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/785.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">785.0</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001649" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001649</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Vascular </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypertension (with pheochromocytoma) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1397267&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1397267</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38341003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38341003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/401-405.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">401-405.99</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/997.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">997.91</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Larynx </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Vocal cord paralysis (caused by tumor impingement) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854345&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854345</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302912005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302912005</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/478.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">478.30</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001605" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001605</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">
- Diaphoresis (with pheochromocytoma) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854341&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854341</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/415691001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">415691001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52613005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52613005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R61</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000975" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000975</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Headache (with pheochromocytoma) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854337&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854337</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25064002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25064002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R51.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R51.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R51</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/784.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.0</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002315</a>]</span><br /> -
Cranial nerve palsies can arise with head and neck paragangliomas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854338&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854338</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Behavioral Psychiatric Manifestations </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Anxiety (with pheochromocytoma) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854339&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854339</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48694002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48694002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197480006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197480006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F41.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F41.1</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000739</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> VOICE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Hoarse voice (caused by tumor impingement) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854348&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854348</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50219008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50219008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R49.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R49.0</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001609" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001609</a>]</span><br /> -
Loss of voice <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/441913003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">441913003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44564008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44564008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R49.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R49.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/784.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003564&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003564</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001686" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001686</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001686" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001686</a>]</span><br />
</span>
</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">
- Paragangliomas <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72787006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72787006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/127027008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">127027008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253029009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253029009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302833002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302833002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/803009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">803009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030421</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002668</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002668</a>]</span><br /> -
Multiple tumors in 74% of patients <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868635</a>]</span><br /> -
Paragangliomas, head and neck (79%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1333944&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1333944</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002864" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002864</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002864" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002864</a>]</span><br /> -
Chemodectomas <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51747000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51747000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302834008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302834008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/127028003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">127028003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30699005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30699005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007279&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007279</a>, <a href="https://bioportal.bioontology.org/search?q=C3494181&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3494181</a>, <a href="https://bioportal.bioontology.org/search?q=C0030422&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030422</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030074" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030074</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002668</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030074" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030074</a>]</span><br /> -
Carotid body tumors (most common location) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/127028003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">127028003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30699005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30699005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007279&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007279</a>, <a href="https://bioportal.bioontology.org/search?q=C3494181&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3494181</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030074" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030074</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002668</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002668</a>]</span><br /> -
Glomus jugular tumors <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/127030001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">127030001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017671&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017671</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003001</a>]</span><br /> -
Vagal nerve tumors (glomus vagale) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0474819&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0474819</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002886" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002886</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002886" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002886</a>]</span><br /> -
Tympanic nerve tumors (glomus tympanicum) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253031000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253031000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0474820&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0474820</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006715" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006715</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006715" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006715</a>]</span><br /> -
Pheochromocytoma, adrenal (53%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85583005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85583005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302835009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302835009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551683&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551683</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006748" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006748</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006748" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006748</a>]</span><br /> -
Pheochromocytoma, extraadrenal (21%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1257877&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1257877</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006737" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006737</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006737" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006737</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Elevated catecholamines (in patients with pheochromocytoma) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0858329&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0858329</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Cells of origin are part of the diffuse neuroendocrine system (DNES)<br /> -
Adult onset (mean 30 years, range 5-60 years) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853562&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853562</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003581</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003581</a>]</span><br /> -
Maternal imprinting<br /> -
Penetrance 86% by 50 years of age<br /> -
Signs and symptoms depend on tumor location and activity<br /> -
Patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both<br /> -
See also PGL2 (<a href="/entry/601650">601650</a>), PGL3 (<a href="/entry/605373">605373</a>), and PGL4 (<a href="/entry/115310">115310</a>)<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 mutations in the succinate dehydrogenase complex subunit D gene (SDHD, <a href="/entry/602690#0001">602690.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Pheochromocytoma/paraganglioma syndrome
- <a href="/phenotypicSeries/PS168000">PS168000</a>
- 7 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/209?start=-3&limit=10&highlight=209"> 1p36.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115310"> Pheochromocytoma/paraganglioma syndrome 4 </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">
<a href="/entry/115310"> 115310 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/185470"> SDHB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/185470"> 185470 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1349?start=-3&limit=10&highlight=1349"> 1q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605373"> Pheochromocytoma/paraganglioma syndrome 3 </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">
<a href="/entry/605373"> 605373 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602413"> SDHC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602413"> 602413 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/9?start=-3&limit=10&highlight=9"> 5p15.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614165"> Pheochromocytoma/paraganglioma syndrome 5 </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">
<a href="/entry/614165"> 614165 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600857"> SDHA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600857"> 600857 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/456?start=-3&limit=10&highlight=456"> 11q12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601650"> Pheochromocytoma/paraganglioma syndrome 2 </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">
<a href="/entry/601650"> 601650 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613019"> SDHAF2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613019"> 613019 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/930?start=-3&limit=10&highlight=930"> 11q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/168000"> Pheochromocytoma/paraganglioma syndrome 1 </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">
<a href="/entry/168000"> 168000 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602690"> SDHD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602690"> 602690 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/392?start=-3&limit=10&highlight=392"> 14q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618475"> Pheochromocytoma/paraganglioma syndrome 7 </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">
<a href="/entry/618475"> 618475 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/126063"> DLST </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/126063"> 126063 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/93?start=-3&limit=10&highlight=93"> 17p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618464"> Pheochromocytoma/paraganglioma syndrome 6 </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">
<a href="/entry/618464"> 618464 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604165"> SLC25A11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604165"> 604165 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;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">&#9660;</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 &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt 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 pheochromocytoma/paraganglioma syndrome-1 (PPGL1) is caused by heterozygous mutation in the SDHD gene (<a href="/entry/602690">602690</a>), which encodes the small subunit of cytochrome B in succinate-ubiquinone oxidoreductase, on chromosome 11q23.</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">&#9660;</span>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<div id="mimDescriptionFold" class="collapse in ">
<span class="mim-text-font">
<p>Pheochromocytoma/paraganglioma syndrome-1 (PPGL1) is an autosomal dominant disorder characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas arise from chromaffin cells in the adrenal medulla, whereas paragangliomas arise in extra-adrenal sympathetic ganglia in the thorax, abdomen, and pelvis or from parasympathetic paraganglia in the head and neck area (summary by <a href="#11" class="mim-tip-reference" title="Cascon, A., Calsina, B., Monteagudo, M., Mellid, S., Diaz-Talavera, A., Curras-Freixes, M., Robledo, M. &lt;strong&gt;Genetic bases of pheochromocytoma and paraganglioma.&lt;/strong&gt; J. Molec. Endocr. 70: e220167, 2023.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/36520714/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;36520714&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1530/JME-22-0167&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="36520714">Cascon et al., 2023</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36520714" 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>Paragangliomas, also referred to as 'glomus body tumors,' are tumors derived from paraganglia located throughout the body. Nonchromaffin types primarily serve as chemoreceptors (hence, the tumor name 'chemodectomas') and are located in the head and neck region (i.e., carotid body, jugular, vagal, and tympanic regions), whereas chromaffin types have endocrine activity, conventionally referred to as 'pheochromocytomas,' and are usually located below the head and neck (i.e., adrenal medulla and pre- and paravertebral thoracoabdominal regions). PPGL can manifest as nonchromaffin head and neck tumors only, adrenal and/or extraadrenal pheochromocytomas only, or a combination of the 2 types of tumors (<a href="#8" class="mim-tip-reference" title="Baysal, B. E. &lt;strong&gt;Hereditary paraganglioma targets diverse paraganglia.&lt;/strong&gt; J. Med. Genet. 39: 617-622, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12205103/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12205103&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.39.9.617&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12205103">Baysal, 2002</a>; <a href="#43" class="mim-tip-reference" title="Neumann, H. P. H., Pawlu, C., Peczkowska, M., Bausch, B., McWhinney, S. R., Muresan, M., Buchta, M., Franke, G., Klisch, J., Bley, T. A., Hoegerle, S., Boedeker, C. C., Opocher, G., Schipper, J., Januszewicz, A., Eng. C. &lt;strong&gt;Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.&lt;/strong&gt; JAMA 292: 943-951, 2004. Note: Erratum: JAMA 292: 1686 only, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15328326/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15328326&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/jama.292.8.943&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15328326">Neumann et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15328326+12205103" 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>The triad of gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma constitutes a syndrome that occurs mainly in young women and is known as the Carney triad (<a href="/entry/604287">604287</a>). This triad is not to be confused with the other Carney syndrome of myxoma, spotty pigmentation, and endocrinopathy (<a href="/entry/160980">160980</a>).</p><p><a href="#9" class="mim-tip-reference" title="Baysal, B. E. &lt;strong&gt;Clinical and molecular progress in hereditary paraganglioma.&lt;/strong&gt; J. Med. Genet. 45: 689-694, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18978332/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18978332&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2008.058560&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18978332">Baysal (2008)</a> provided a review of the molecular pathogenesis of hereditary paraganglioma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18978332" 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><strong><em>Genetic Heterogeneity of Pheochromocytoma/Paraganglioma Syndrome</em></strong></p><p>
See also PPGL2 (<a href="/entry/601650">601650</a>), caused by mutation in the SDHAF2 gene (<a href="/entry/613019">613019</a>) on chromosome 11q13; PPGL3 (<a href="/entry/605373">605373</a>), caused by mutation in the SDHC gene (<a href="/entry/602413">602413</a>) on chromosome 1q21; PPGL4 (<a href="/entry/115310">115310</a>), caused by mutation in the SDHB gene (<a href="/entry/185470">185470</a>) on chromosome 1p36; PPGL5 (<a href="/entry/614165">614165</a>), caused by mutation in the SDHA gene (<a href="/entry/600857">600857</a>) on chromosome 5p15; PPGL6 (<a href="/entry/618464">618464</a>), caused by mutation in the SLC25A11 gene (<a href="/entry/604165">604165</a>) on chromosome 17p13; and PPGL7 (<a href="/entry/618475">618475</a>), caused by mutation in the DLST gene (<a href="/entry/126063">126063</a>) on chromosome 14q24.</p>
</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">&#9660;</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><a href="#34" class="mim-tip-reference" title="Kroll, A. J., Alexander, B., Cochios, F., Pechet, L. &lt;strong&gt;Hereditary deficiencies of clotting factors VII and X associated with carotid-body tumors.&lt;/strong&gt; New Eng. J. Med. 270: 6-13, 1964.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14062129/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14062129&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM196401022700102&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14062129">Kroll et al. (1964)</a> found carotid body tumors in 12 members of a family in an autosomal dominant pattern of inheritance. <a href="#51" class="mim-tip-reference" title="Resler, D. R., Snow, J. B., Williams, G. R. &lt;strong&gt;Multiplicity and familial incidence of carotid body and glomus jugulare tumors.&lt;/strong&gt; Ann. Otol. Rhinol. Laryng. 75: 114-122, 1966.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4286420/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4286420&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1177/000348946607500109&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4286420">Resler et al. (1966)</a> reported a patient with bilateral carotid body tumors and a glomus jugulare tumor. The authors noted that familial carotid body tumors tended to be multiple. Familial glomus jugulare tumors were likely described in 3 affected sisters reported in 1937 by Goekoop (cited by <a href="#52" class="mim-tip-reference" title="Rosen, S. &lt;strong&gt;Glomus jugulare tumor of the middle ear with normal drum, improved biopsy technique.&lt;/strong&gt; Ann. Otol. Rhinol. Laryng. 61: 448-451, 1952.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14944141/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14944141&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1177/000348945206100214&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14944141">Rosen, 1952</a>). Also see <a href="#35" class="mim-tip-reference" title="Ladenheim, J. C., Sachs, E., Jr. &lt;strong&gt;Familial tumors of the &#x27;glomus jugulare&#x27;: report of 2 cases, with a note on the vascular origin of the glomera.&lt;/strong&gt; Neurology 11: 303-309, 1961.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13758152/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13758152&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.11.4.303&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="13758152">Ladenheim and Sachs (1961)</a>. <a href="#3" class="mim-tip-reference" title="Bartels, J. &lt;strong&gt;De tumoren van het glomus jugulare.&lt;/strong&gt; Thesis: Groningen (pub.) 1949."None>Bartels (1949)</a> identified carotid body tumors in members of 3 successive generations of a family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14062129+14944141+4286420+13758152" 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="#58" class="mim-tip-reference" title="Wilson, H. &lt;strong&gt;Carotid body tumors: familial and bilateral.&lt;/strong&gt; Ann. Surg. 171: 843-848, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5420930/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5420930&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00000658-197006010-00004&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5420930">Wilson (1970)</a> reviewed familial reports of carotid body tumors and described a family with male-to-male transmission and a skipped generation. <a href="#49" class="mim-tip-reference" title="Pratt, L. W. &lt;strong&gt;Familial carotid body tumors.&lt;/strong&gt; Arch. Otolaryng. 97: 334-336, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4699542/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4699542&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archotol.1973.00780010344011&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4699542">Pratt (1973)</a> reviewed the literature and reported 8 new cases of either unilateral or bilateral carotid body tumors in 4 generations of a kindred. In 1 generation of this family, 4 sisters had bilateral tumors and 1 brother had unilateral tumors. None of the 8 tumors reported were malignant. <a href="#14" class="mim-tip-reference" title="Chedid, A., Jao, W. &lt;strong&gt;Hereditary tumors of the carotid bodies and chronic obstructive pulmonary disease.&lt;/strong&gt; Cancer 33: 1635-1641, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4366403/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4366403&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/1097-0142(197406)33:6&lt;1635::aid-cncr2820330625&gt;3.0.co;2-j&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4366403">Chedid and Jao (1974)</a> identified carotid body tumors in 6 members of 2 consecutive generations of a family. Four also had chronic obstructive pulmonary disease with persistently high arterial pCO(2) and low pO(2). The authors theorized that the tumors started as hyperplasia secondary to the stimulus of these altered blood gases. <a href="#44" class="mim-tip-reference" title="Nissenblatt, M. J. &lt;strong&gt;Cyanotic heart disease: &#x27;low altitude&#x27; risk for carotid body tumor?&lt;/strong&gt; Johns Hopkins Med. J. 142: 18-22, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/625092/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;625092&lt;/a&gt;]" pmid="625092">Nissenblatt (1978)</a> reported a young woman with hypoplastic right heart syndrome who developed a carotid body tumor at age 28 years. He suggested a connection between low-oxygen situations such as high altitude living, emphysema, and cyanotic congenital heart disease, and the development of carotid body tumors. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4366403+625092+4699542+5420930" 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="#21" class="mim-tip-reference" title="Grufferman, S., Gillman, M. W., Pasternak, L. R., Peterson, C. L., Young, W. G., Jr. &lt;strong&gt;Familial carotid body tumors: case report and epidemiologic review.&lt;/strong&gt; Cancer 46: 2116-2122, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7000334/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7000334&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/1097-0142(19801101)46:9&lt;2116::aid-cncr2820460934&gt;3.0.co;2-s&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7000334">Grufferman et al. (1980)</a> reported 2 sisters with carotid body tumors and reviewed reports of 88 familial and 835 nonfamilial CBT cases. Familial cases had an equal sex ratio and followed autosomal dominant inheritance. Bilateral disease occurred in 31.8% of familial cases and 4.4% of sporadic cases. Six percent of all patients developed second primary tumors, mostly other paragangliomas. <a href="#47" class="mim-tip-reference" title="Parry, D. M., Li, F. P., Strong, L. C., Carney, J. A., Schottenfeld, D., Reimer, R. R., Grufferman, S. &lt;strong&gt;Carotid body tumors in humans: genetics and epidemiology.&lt;/strong&gt; J. Nat. Cancer Inst. 68: 573-578, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6951072/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6951072&lt;/a&gt;]" pmid="6951072">Parry et al. (1982)</a> reviewed the records of 222 histologically diagnosed cases of carotid body tumors, including 146 females and 76 males. The mean age at tumor development was 44.7 years. In 16 patients who had other extraadrenal paragangliomas, suggesting a multiple primary tumor syndrome, the diagnosis occurred earlier (mean, 35.4 years; p less than 0.01). Five patients also developed thyroid cancer. Familial cases were more often bilateral and diagnosed slightly earlier. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7000334+6951072" 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="#54" class="mim-tip-reference" title="van Baars, F., Cremers, C., van den Broek, P., Geerts, S., Veldman, J. &lt;strong&gt;Genetic aspects of nonchromaffin paraganglioma.&lt;/strong&gt; Hum. Genet. 60: 305-309, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6286462/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6286462&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00569208&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6286462">Van Baars et al. (1982)</a> provided a review of the literature of familial nonchromaffin paragangliomas. Carotid body tumors were the most common, followed by glomus jugulare, glomus vagale, and glomus tympanicum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6286462" 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="#46" class="mim-tip-reference" title="Parkin, J. L. &lt;strong&gt;Familial multiple glomus tumors and pheochromocytomas.&lt;/strong&gt; Ann. Otol. Rhinol. Laryng. 90: 60-63, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6258467/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6258467&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1177/000348948109000115&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6258467">Parkin (1981)</a> reported 2 unrelated families with a hereditary syndrome of pheochromocytoma associated with multiple glomus tumors of the head and neck. <a href="#15" class="mim-tip-reference" title="DeAngelis, L. M., Kelleher, M. B., Post, K. D., Fetell, M. R. &lt;strong&gt;Multiple paragangliomas in neurofibromatosis: a new neuroendocrine neoplasia.&lt;/strong&gt; Neurology 37: 129-133, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2879257/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2879257&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.37.1.129&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2879257">DeAngelis et al. (1987)</a> reported the occurrence of pheochromocytoma and multiple paragangliomas in a patient with neurofibromatosis (<a href="/entry/162200">162200</a>). <a href="#30" class="mim-tip-reference" title="Karasov, R. S., Sheps, S. G., Carney, J. A., van Heerden, J. A., DeQuattro, V. &lt;strong&gt;Paragangliomatosis with numerous catecholamine-producing tumors.&lt;/strong&gt; Mayo Clin. Proc. 57: 590-595, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6213823/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6213823&lt;/a&gt;]" pmid="6213823">Karasov et al. (1982)</a> described a sporadic case of a girl with a record number of 21 paragangliomas removed between the ages of 13 and 17 years, with evidence of remaining tumors. The tumors were catecholamine-producing. <a href="#32" class="mim-tip-reference" title="Khafagi, F., Egerton-Vernon, J., van Doorn, T., Foster, W., McPhee, I. B., Allison, R. W. G. &lt;strong&gt;Localization and treatment of familial malignant nonfunctional paraganglioma with iodine-131 MIBG: report of two cases.&lt;/strong&gt; J. Nucl. Med. 28: 528-531, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2437268/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2437268&lt;/a&gt;]" pmid="2437268">Khafagi et al. (1987)</a> reported 2 unrelated adults, both of whom had a positive family history of paraganglioma. Both had malignant nonfunctional paragangliomas detected by uptake of iodine-131 metaiodobenzylguanidine; this agent proved to be of therapeutic value in the management of unresectable metastases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6258467+2879257+6213823+2437268" 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="#57" class="mim-tip-reference" title="van Schothorst, E. M., Jansen, J. C., Grooters, E., Prins, D. E. M., Wiersinga, J. J., van der Mey, A. G. L., van Ommen, G.-J. B., Devilee, P., Cornelisse, C. J. &lt;strong&gt;Founder effect at PGL1 in hereditary head and neck paraganglioma families from The Netherlands.&lt;/strong&gt; Am. J. Hum. Genet. 63: 468-473, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9683583/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9683583&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301951&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9683583">Van Schothorst et al. (1998)</a> reported 10 families with head and neck paragangliomas who originated from the same geographic region in the Netherlands. The carotid bifurcation was the most frequently affected site (57% of all head and neck tumors), and multiple paragangliomas occurred in 66% of patients. Three patients from different families developed a pheochromocytoma. No affected offspring of female carriers was observed, and all affected family members received the disease gene from their father. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9683583" 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="#50" class="mim-tip-reference" title="Prontera, P., Ferrando, B., Giuliani, V., Falcinelli, F., Mencarelli, A., Rogaia, D., Pasini, B, Donti, E. &lt;strong&gt;A novel mutation in the SDHD gene responsible for familial paraganglioma. Medical and psychological implications.&lt;/strong&gt; Genet. Counsel. 19: 413-418, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19239085/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19239085&lt;/a&gt;]" pmid="19239085">Prontera et al. (2008)</a> reported an Italian family with PGL1. The proband was a 49-year-old man who presented with throat pain, dysphonia, dyspnea, and mild hypertension, and was found to have bilateral carotid chemodectomas with multiple highly vascularized laryngeal and carotid paragangliomas. Family history revealed that the father, who died at age 71 of lung cancer, was diagnosed at age 66 with bilateral paragangliomas in the pericarotid region. The 55-year-old sister of the proband developed multiple laryngeal and carotid paragangliomas at age 52. The proband and his sister both carried a heterozygous truncating mutation in the SDHD gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19239085" 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="#25" class="mim-tip-reference" title="Hensen, E. F., Jansen, J. C., Siemers, M. D., Ossterwijk, J. C., Vriends, A. H. J. T., Corssmit, E. P. M., Bayley, J.-P., van der Mey, A. G. L., Cornelisse, C. J., Devilee, P. &lt;strong&gt;The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family.&lt;/strong&gt; Europ. J. Hum. Genet. 18: 62-66, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19584903/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19584903&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19584903[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ejhg.2009.112&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19584903">Hensen et al. (2010)</a> used the Kaplan-Meier method to calculate the age-specific penetrance of paragangliomas in 243 members of a large 7-generation Dutch family (<a href="#45" class="mim-tip-reference" title="Oosterwijk, J. C., Jansen, J. C., van Schothorst, E. M., Oosterhof, A. W., Devilee, P., Bakker, E., Zoeteweij, M. W., van der Mey, A. G. L. &lt;strong&gt;First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas).&lt;/strong&gt; J. Med. Genet. 33: 379-383, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8733047/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8733047&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.33.5.379&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8733047">Oosterwijk et al., 1996</a>) with PGL1 caused by a founder mutation in the SDHD gene (D92Y; <a href="/entry/602690#0004">602690.0004</a>). The age at onset of symptoms ranged from 14 to 47 years. By clinical signs and symptoms alone, the penetrance reached a maximum of 57% by age 47 years. When MRI detection of occult paragangliomas was included, penetrance was estimated at 54% by age 40, 68% by age 60, and 87% by age 70. Multiple tumors were found in 65%, and 8% of paraganglioma patients had pheochromocytomas. One (3%) patient developed a malignant paraganglioma. None of 11 instances of maternal transmission of the mutation resulted in the development of paragangliomas. The findings indicated that the majority of mutation carriers will eventually develop head and neck paragangliomas, although <a href="#25" class="mim-tip-reference" title="Hensen, E. F., Jansen, J. C., Siemers, M. D., Ossterwijk, J. C., Vriends, A. H. J. T., Corssmit, E. P. M., Bayley, J.-P., van der Mey, A. G. L., Cornelisse, C. J., Devilee, P. &lt;strong&gt;The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family.&lt;/strong&gt; Europ. J. Hum. Genet. 18: 62-66, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19584903/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19584903&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19584903[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ejhg.2009.112&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19584903">Hensen et al. (2010)</a> stated that the penetrance in this study was lower than some previous estimates. <a href="#25" class="mim-tip-reference" title="Hensen, E. F., Jansen, J. C., Siemers, M. D., Ossterwijk, J. C., Vriends, A. H. J. T., Corssmit, E. P. M., Bayley, J.-P., van der Mey, A. G. L., Cornelisse, C. J., Devilee, P. &lt;strong&gt;The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family.&lt;/strong&gt; Europ. J. Hum. Genet. 18: 62-66, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19584903/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19584903&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19584903[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ejhg.2009.112&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19584903">Hensen et al. (2010)</a> emphasized the importance of including clinically unaffected mutation carriers in estimates of penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8733047+19584903" 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>Among 47 asymptomatic carriers of SDHD mutations screened by physical examination or MRI, <a href="#24" class="mim-tip-reference" title="Heesterman, B. L., Bayley, J. P., Tops, C. M., Hes, F. J., van Brussel, B. T. J., Corssmit, E. P. M., Hamming, J. F., van der Mey, A. G. L., Jansen, J. C. &lt;strong&gt;High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations.&lt;/strong&gt; Europ. J. Hum. Genet. 21: 469-470, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22948026/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22948026&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ejhg.2012.203&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22948026">Heesterman et al. (2013)</a> found that 28 (59.6%) carried a total of 57 tumors, including 38 carotid body tumors, 17 vagal body tumors, and 2 jugulotympanic tumors. Multiple tumors were seen in 34% of patients. Two patients (4.3%) had a sympathetic paraganglioma. The report indicated that a high percentage of asymptomatic SDHD mutation carriers have occult head and neck paragangliomas. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22948026" 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="inheritance" class="mim-anchor"></a>
<h4 href="#mimInheritanceFold" id="mimInheritanceToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimInheritanceToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<div id="mimInheritanceFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><strong><em>Maternal Imprinting</em></strong></p><p>
From a study of 15 pedigrees, <a href="#55" class="mim-tip-reference" title="van der Mey, A. G., Maaswinkel-Mooy, P. D., Cornelisse, C. J., Schmidt, P. H., van de Kamp, J. J. &lt;strong&gt;Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory.&lt;/strong&gt; Lancet 334: 1291-1294, 1989. Note: Originally Volume II.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2574254/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2574254&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(89)91908-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2574254">van der Mey et al. (1989)</a> concluded that familial paragangliomas, which they referred to as hereditary glomus tumors, were inherited almost exclusively through the paternal line, a finding inconsistent with simple autosomal dominant transmission. They suggested a role for genomic imprinting, in which the maternally derived gene is inactivated during female oogenesis and can be reactivated only during spermatogenesis. <a href="#28" class="mim-tip-reference" title="Heutink, P., van der Mey, A. G. L., Sandkuijl, L. A., van Gils, A. P. G., Bardoel, A., Breedveld, G. J., van Vliet, M., van Ommen, G.-J. B., Cornelisse, C. J., Oostra, B. A., Weber, J. L., Devilee, P. &lt;strong&gt;A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter.&lt;/strong&gt; Hum. Molec. Genet. 1: 7-10, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1301144/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1301144&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/1.1.7&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1301144">Heutink et al. (1992)</a> stated that all individuals with hereditary paragangliomas had inherited the disease gene from their father; expression of the phenotype was not observed in the offspring of an affected female until subsequent transmission of the gene through a male carrier. The observations strongly suggested genomic imprinting. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1301144+2574254" 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="#4" class="mim-tip-reference" title="Baysal, B. E., Farr, J. E., Rubinstein, W. S., Galus, R. A., Johnson, K. A., Aston, C. E., Myers, E. N., Johnson, J. T., Carrau, R., Kirkpatrick, S. J., Myssiorek, D., Singh, D., Saha, S., Gollin, S. M., Evans, G. A., James, M. R., Richard, C. W., III. &lt;strong&gt;Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23.&lt;/strong&gt; Am. J. Hum. Genet. 60: 121-132, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8981955/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8981955&lt;/a&gt;]" pmid="8981955">Baysal et al. (1997)</a> noted that the age of onset of symptoms was significantly different between fathers and children: affected children had an earlier age of onset in 39 of 57 father-child pairs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8981955" 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><strong><em>Maternal Inheritance</em></strong></p><p>
<a href="#48" class="mim-tip-reference" title="Pigny, P., Vincent, A., Bauters, C. C., Bertrand, M., de Montpreville, V. T., Crepin, M., Porchet, N., Caron, P. &lt;strong&gt;Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation.&lt;/strong&gt; J. Clin. Endocr. Metab. 93: 1609-1615, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18211978/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18211978&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jc.2007-1989&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18211978">Pigny et al. (2008)</a> reported what they believed to be the first description of a paraganglioma kindred with maternal transmission of the mutated SDHD (<a href="/entry/602690">602690</a>) allele. A boy received the W43X mutation (<a href="/entry/602690#0023">602690.0023</a>) from his mother and developed a glomus tympanicum paraganglioma at 11 years of age. He shared only the 11q23 haplotype with the other affected members of the family. <a href="#48" class="mim-tip-reference" title="Pigny, P., Vincent, A., Bauters, C. C., Bertrand, M., de Montpreville, V. T., Crepin, M., Porchet, N., Caron, P. &lt;strong&gt;Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation.&lt;/strong&gt; J. Clin. Endocr. Metab. 93: 1609-1615, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18211978/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18211978&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jc.2007-1989&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18211978">Pigny et al. (2008)</a> concluded that maternal transmission of a SDHD-linked paraganglioma, even if a rare event, can occur. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18211978" 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">&#9660;</span>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<div id="mimMappingFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>In a large Dutch pedigree with hereditary paragangliomas, <a href="#28" class="mim-tip-reference" title="Heutink, P., van der Mey, A. G. L., Sandkuijl, L. A., van Gils, A. P. G., Bardoel, A., Breedveld, G. J., van Vliet, M., van Ommen, G.-J. B., Cornelisse, C. J., Oostra, B. A., Weber, J. L., Devilee, P. &lt;strong&gt;A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter.&lt;/strong&gt; Hum. Molec. Genet. 1: 7-10, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1301144/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1301144&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/1.1.7&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1301144">Heutink et al. (1992)</a> found linkage with marker D11S147 located at chromosome 11q23-qter (maximum lod score of 6.0 at theta = 0.0 ). Likelihood calculations yielded a very high odds ratio in favor of genomic imprinting versus absence of genomic imprinting. <a href="#17" class="mim-tip-reference" title="Devilee, P., Heutink, P., van der Mey, A. G. L., Oostra, B. A., van Ommen, G. J.-B., Cornelisse, C. J. &lt;strong&gt;Mapping the genomically imprinted gene responsible for hereditary paragangliomas on 11q. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 51 (suppl.): A61 only, 1992."None>Devilee et al. (1992)</a> performed haplotyping in this large Dutch family using 15 markers in the region 11q13-q23. Two recombination events placed the PGL locus distal to STMY (<a href="/entry/185260">185260</a>) and proximal to D11S836, thus excluding the oncogenes INT2 (<a href="/entry/164950">164950</a>) and ETS1 (<a href="/entry/164720">164720</a>) as the site of the mutation. In an affected PGL family that showed imprinting, <a href="#38" class="mim-tip-reference" title="Mariman, E. C. M., van Beersum, S. E. C., Cremers, C. W. R. J., Struycken, P. M., Ropers, H. H. &lt;strong&gt;Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity.&lt;/strong&gt; Hum. Genet. 95: 56-62, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7814027/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7814027&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00225075&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7814027">Mariman et al. (1995)</a> found linkage to the locus on distal 11q. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1301144+7814027" 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 patients with familial nonchromaffin paragangliomas, <a href="#18" class="mim-tip-reference" title="Devilee, P., van Schothorst, E. M., Bardoel, A. F. J., Bonsing, B., Kuipers-Dijkshoorn, N., James, M. R., Fleuren, G., van der Mey, A. G. L., Cornelisse, C. J. &lt;strong&gt;Allelotype of head and neck paragangliomas: allelic imbalance is confined to the long arm of chromosome 11, the site of the predisposing locus PGL.&lt;/strong&gt; Genes Chromosomes Cancer 11: 71-78, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7529551/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7529551&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/gcc.2870110202&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7529551">Devilee et al. (1994)</a> found loss of heterozygosity (LOH) only on chromosome 11, with a marked clustering on the distal half of the long arm. In all 8 cases in which they could determine the parental origin, the allele undergoing loss was maternally derived. However, LOH in all tumors was only partial, and it was not clear whether this represented an allelic imbalance or cellular heterogeneity. In a later study, <a href="#56" class="mim-tip-reference" title="van Schothorst, E. M., Beekman, M., Torremans, P., Kuipers-Dijkshoorn, N. J., Wessels, H. W., Bardoel, A. F. J., van der Mey, A. G. L., van der Vijver, M. J., van Ommen, G.-J. B., Devilee, P., Cornelisse, C. J. &lt;strong&gt;Paragangliomas of the head and neck region show complete loss of heterozygosity at 11q22-q23 in chief cells and the flow-sorted DNA aneuploid fraction.&lt;/strong&gt; Hum. Path. 29: 1045-1049, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9781639/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9781639&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0046-8177(98)90411-7&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9781639">van Schothorst et al. (1998)</a> performed LOH analysis for the 11q22-q23 region on DNA-aneuploid tumor cells, enriched by flow sorting, and on purified chief cell fractions obtained by single-cell microdissection. Complete LOH was found in both types of cells, indicating that the chief cells were clonal proliferated tumor cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7529551+9781639" 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="#45" class="mim-tip-reference" title="Oosterwijk, J. C., Jansen, J. C., van Schothorst, E. M., Oosterhof, A. W., Devilee, P., Bakker, E., Zoeteweij, M. W., van der Mey, A. G. L. &lt;strong&gt;First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas).&lt;/strong&gt; J. Med. Genet. 33: 379-383, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8733047/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8733047&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.33.5.379&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8733047">Oosterwijk et al. (1996)</a> gave the location of the PGL1 gene as 11q22.3-q23. They offered genetic counseling on the basis of DNA linkage diagnosis in an extended Dutch pedigree. Presymptomatic testing of the paternal allele was performed in 16 cases; 4 of these appeared to have the at-risk haplotype and in 2 of the 4 a glomus tumor was subsequently detected on MRI. In 1 case linkage results were inconclusive because of recombination and 1 person did not want to learn his test result. The maternal allele was tested for carrier status in 4 cases of which 1 appeared to be a carrier. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733047" 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="#4" class="mim-tip-reference" title="Baysal, B. E., Farr, J. E., Rubinstein, W. S., Galus, R. A., Johnson, K. A., Aston, C. E., Myers, E. N., Johnson, J. T., Carrau, R., Kirkpatrick, S. J., Myssiorek, D., Singh, D., Saha, S., Gollin, S. M., Evans, G. A., James, M. R., Richard, C. W., III. &lt;strong&gt;Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23.&lt;/strong&gt; Am. J. Hum. Genet. 60: 121-132, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8981955/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8981955&lt;/a&gt;]" pmid="8981955">Baysal et al. (1997)</a> reported linkage of paraganglioma to chromosome 11q23 in 3 of 6 North American families. Recombinants narrowed the critical region to a 4.5-Mb interval flanked by the markers D11S1647 and D11S622. Partial allelic loss of strictly maternal origin was detected in 5 of 19 tumors. <a href="#41" class="mim-tip-reference" title="Milunsky, J., DeStefano, A. L., Huang, X.-L., Baldwin, C. T., Michels, V. V., Jako, G., Milunsky, A. &lt;strong&gt;Familial paragangliomas: linkage to chromosome 11q23 and clinical implications.&lt;/strong&gt; Am. J. Med. Genet. 72: 66-70, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9295078/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9295078&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19971003)72:1&lt;66::aid-ajmg14&gt;3.0.co;2-s&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9295078">Milunsky et al. (1997)</a> confirmed linkage to 11q23 in studies of 3 affected families. The inheritance pattern was consistent with genetic imprinting; the disorder was transmitted only by males. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8981955+9295078" 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>Another 10 families with hereditary head and neck paragangliomas were ascertained by <a href="#57" class="mim-tip-reference" title="van Schothorst, E. M., Jansen, J. C., Grooters, E., Prins, D. E. M., Wiersinga, J. J., van der Mey, A. G. L., van Ommen, G.-J. B., Devilee, P., Cornelisse, C. J. &lt;strong&gt;Founder effect at PGL1 in hereditary head and neck paraganglioma families from The Netherlands.&lt;/strong&gt; Am. J. Hum. Genet. 63: 468-473, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9683583/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9683583&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301951&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9683583">van Schothorst et al. (1998)</a> from the same geographic region as that from which the large PGL1-linked Dutch family originated (<a href="#28" class="mim-tip-reference" title="Heutink, P., van der Mey, A. G. L., Sandkuijl, L. A., van Gils, A. P. G., Bardoel, A., Breedveld, G. J., van Vliet, M., van Ommen, G.-J. B., Cornelisse, C. J., Oostra, B. A., Weber, J. L., Devilee, P. &lt;strong&gt;A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter.&lt;/strong&gt; Hum. Molec. Genet. 1: 7-10, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1301144/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1301144&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/1.1.7&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1301144">Heutink et al., 1992</a>). They determined the disease-linked haplotype, as defined by 13 markers encompassing a large interval on 11q21-q23, in these families and showed that alleles were identical for 6 contiguous markers spanning a genetic distance of 6 cM and containing PGL1. Despite this strong indication of a common ancestor, no kinship between the families could be demonstrated through genealogic surveys going back to 1800. <a href="#6" class="mim-tip-reference" title="Baysal, B. E., van Schothorst, E. M., Farr, J. E., Grashof, P., Myssiorek, D., Rubinstein, W. S., Taschner, P., Cornelisse, C. J., Devlin, B., Devilee, P., Richard, C. W., III. &lt;strong&gt;Repositioning the hereditary paraganglioma critical region on chromosome band 11q23.&lt;/strong&gt; Hum. Genet. 104: 219-225, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10323245/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10323245&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390050939&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10323245">Baysal et al. (1999)</a> reevaluated the haplotype data of the multigenerational Dutch PGL1-linked family, using 2 additional single tandem repeat polymorphisms (STRPs) contained within the PGL1 critical interval proposed by <a href="#57" class="mim-tip-reference" title="van Schothorst, E. M., Jansen, J. C., Grooters, E., Prins, D. E. M., Wiersinga, J. J., van der Mey, A. G. L., van Ommen, G.-J. B., Devilee, P., Cornelisse, C. J. &lt;strong&gt;Founder effect at PGL1 in hereditary head and neck paraganglioma families from The Netherlands.&lt;/strong&gt; Am. J. Hum. Genet. 63: 468-473, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9683583/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9683583&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301951&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9683583">van Schothorst et al. (1998)</a>. They excluded this interval, and instead predicted a nonoverlapping, more proximal 2-Mb critical interval between markers D11S1647 and D11S897. Analysis of 4 new American PGL families defined the telomeric border of the critical region as D11S1347. Among 3 unrelated American PGL families, significant haplotype sharing within this new interval was observed, strongly suggesting that they originated from a common ancestor. In sum, the authors refined the PGL1 locus to a 1.5-Mb region between D11S1986 and D11S1347. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10323245+1301144+9683583" 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">&#9660;</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="#1" class="mim-tip-reference" title="Astrom, K., Cohen, J. E., Willett-Brozick, J. E., Aston, C. E., Baysal, B. E. &lt;strong&gt;Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.&lt;/strong&gt; Hum. Genet. 113: 228-237, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12811540/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12811540&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00439-003-0969-6&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12811540">Astrom et al. (2003)</a> stated that a large number of PGL1 families had been reported from the Netherlands and that there may be Dutch founder mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12811540" 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 affected members of families with hereditary paraganglioma, <a href="#5" class="mim-tip-reference" title="Baysal, B. E., Ferrell, R. E., Willett-Brozick, J. E., Lawrence, E. C., Myssiorek, D., Bosch, A., van der May, A., Taschner, P. E. M., Rubinstein, W. S., Myers, E. N., Richard, C. W., III, Cornelisse, C. J., Devilee, P., Devlin, B. &lt;strong&gt;Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.&lt;/strong&gt; Science 287: 848-851, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10657297/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10657297&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.287.5454.848&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10657297">Baysal et al. (2000)</a> identified mutations in the SDHD gene (<a href="/entry/602690#0001">602690.0001</a>-<a href="/entry/602690#0005">602690.0005</a>), including the Dutch founder mutation (D92Y; <a href="/entry/602690#0004">602690.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10657297" 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="#19" class="mim-tip-reference" title="Gimm, O., Armanios, M., Dziema, H., Neumann, H. P. H., Eng, C. &lt;strong&gt;Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.&lt;/strong&gt; Cancer Res. 60: 6822-6825, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11156372/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11156372&lt;/a&gt;]" pmid="11156372">Gimm et al. (2000)</a> identified several mutations in the SDHD gene in unrelated patients. One patient had a pheochromocytoma and a carotid body paraganglioma (see <a href="/entry/602690#0010">602690.0010</a>); 2 unrelated patients, 1 with an extraadrenal intraabdominal pheochromocytoma with involvement of the jugular fossa, suggesting malignancy, and 1 with an isolated intestinal lipoma, had the same mutation (<a href="/entry/602690#0011">602690.0011</a>); and a 33-year-old woman had 2 extraadrenal pheochromocytomas, 1 intraabdominal and 1 intrathoracic (see <a href="/entry/602690#0002">602690.0002</a>). Finally, the authors identified a somatic SDHD mutation in a pheochromocytoma (<a href="/entry/602690#0003">602690.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11156372" 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 7 families with familial paragangliomas, <a href="#42" class="mim-tip-reference" title="Milunsky, J. M., Maher, T. A., Michels, V. V., Milunsky, A. &lt;strong&gt;Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.&lt;/strong&gt; Am. J. Med. Genet. 100: 311-314, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11343322/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11343322&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1270&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11343322">Milunsky et al. (2001)</a> identified mutations in the SDHD gene (<a href="/entry/602690#0006">602690.0006</a>-<a href="/entry/602690#0009">602690.0009</a>). Three unrelated families had the same mutation (<a href="/entry/602690#0003">602690.0003</a>), suggesting a founder effect. A restriction enzyme assay was developed for initial screening for the common mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11343322" 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="#12" class="mim-tip-reference" title="Cascon, A., Ruiz-Llorente, S., Cebrian, A., Telleria, D., Rivero, J. C., Diez, J. J., Lopez-Ibarra, P., Jaunsolo, M. A., Benitez, J., Robledo, M. &lt;strong&gt;Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.&lt;/strong&gt; Europ. J. Hum. Genet. 10: 457-461, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12111639/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12111639&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5200829&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12111639">Cascon et al. (2002)</a> performed mutation analysis of the SDHD gene in 25 consecutive, unrelated patients with pheochromocytoma and/or paraganglioma, with or without family history. There were 18 patients with pheochromocytoma, 4 with paraganglioma alone, and 3 with both, who had tested negative for germline mutations in the VHL (<a href="/entry/608537">608537</a>) and RET (<a href="/entry/164761">164761</a>) genes. Two novel truncating mutations were detected, a 4-bp deletion (<a href="/entry/602690#0022">602690.0022</a>) in an apparently sporadic case of paraganglioma and pheochromocytoma, and a nonsense mutation (<a href="/entry/602690#0023">602690.0023</a>) in a patient with paraganglioma with a family history of pheochromocytoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12111639" 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 a patient of German descent with sporadic bilateral carotid body paragangliomata, <a href="#37" class="mim-tip-reference" title="Leube, B., Huber, R., Goecke, T. O., Sandmann, W., Royer-Pokora, B. &lt;strong&gt;SDHD mutation analysis in seven German patients with sporadic carotid body paraganglioma: one novel mutation, no Dutch founder mutation and further evidence that G12S is a polymorphism. (Letter)&lt;/strong&gt; Clin. Genet. 65: 61-63, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15032977/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15032977&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j..2004.00174.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15032977">Leube et al. (2004)</a> identified a frameshift mutation in the SDHD gene (<a href="/entry/602690#0020">602690.0020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15032977" 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="#40" class="mim-tip-reference" title="Mhatre, A. N., Li, Y., Feng, L., Gasperin, A., Lalwani, A. K. &lt;strong&gt;SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas.&lt;/strong&gt; Clin. Genet. 66: 461-466, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15479192/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15479192&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2004.00328.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15479192">Mhatre et al. (2004)</a> performed a mutation screen of the SDHB, SDHC, and SDHD genes in blood and tumor samples of 14 sporadic and 3 familial cases of head and neck paragangliomas. Germline mutations in SDHB and SDHD were identified in 2 of the 3 affected individuals with familial PGL, whereas no germline or somatic mutations were identified in the 14 sporadic cases. The presence of mutations within SDHB and SDHD in 2 of the 3 samples of familial PGL and absence of mutations in sporadic cases is consistent with a significant contribution of these genes to familial but not sporadic PGL. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15479192" 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="heterogeneity" class="mim-anchor"></a>
<h4 href="#mimHeterogeneityFold" id="mimHeterogeneityToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimHeterogeneityToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Heterogeneity</strong>
</span>
</h4>
</div>
<div id="mimHeterogeneityFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><strong><em>Carotid Body Paragangliomas with Sensorineural Hearing Loss</em></strong></p><p>
<a href="#2" class="mim-tip-reference" title="Badenhop, R. F., Cherian, S., Lord, R. S. A., Baysal, B. E., Taschner, P. E. M., Schofield, P. R. &lt;strong&gt;Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.&lt;/strong&gt; Genes Chromosomes Cancer 31: 255-263, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11391796/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11391796&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/gcc.1142&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11391796">Badenhop et al. (2001)</a> studied 4 families with familial carotid body paragangliomas, 2 of which exhibited coinheritance of paragangliomas and sensorineural hearing loss or tinnitus. Sequence analysis identified mutations in exon 1 and exon 3 of the SDHD gene, including a novel 2-bp deletion in exon 3 creating a premature stop codon at position 67 (<a href="/entry/602690#0013">602690.0013</a>); a novel 3-bp deletion in exon 3 resulting in the loss of tyr93 (<a href="/entry/602690#0014">602690.0014</a>); a missense mutation in exon 3 resulting in a pro81-to-leu substitution (<a href="/entry/602690#0003">602690.0003</a>); and a novel G-to-C substitution in exon 1 resulting in a met1-to-val substitution (<a href="/entry/602690#0015">602690.0015</a>). The PGL1 region contains another gene, DPP2/TIMM8B (<a href="/entry/606659">606659</a>), a homolog of the X-linked TIMM8A gene (<a href="/entry/300356">300356</a>), mutations in which cause dystonia and deafness seen in Mohr-Tranebjaerg syndrome (<a href="/entry/304700">304700</a>). The authors found no base changes in the TIMM8B gene; thus, it would seem that the association of paraganglioma with sensorineural hearing loss cannot be explained by the proximity of the TIMM8B and SDHD genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11391796" 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="genotypePhenotypeCorrelations" class="mim-anchor"></a>
<h4 href="#mimGenotypePhenotypeCorrelationsFold" id="mimGenotypePhenotypeCorrelationsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimGenotypePhenotypeCorrelationsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
</span>
</h4>
</div>
<div id="mimGenotypePhenotypeCorrelationsFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>In a review of several studies, <a href="#7" class="mim-tip-reference" title="Baysal, B. E., Willett-Brozick, J. E., Lawrence, E. C., Drovdlic, C. M., Savul, S. A., McLeod, D. R., Yee, H. A., Brackmann, D. E., Slattery, W. H., III, Myers, E. N., Ferrell, R. E., Rubinstein, W. S. &lt;strong&gt;Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.&lt;/strong&gt; J. Med. Genet. 39: 178-183, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11897817/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11897817&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.39.3.178&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11897817">Baysal et al. (2002)</a> found that 83 cases of paragangliomas-1 in 'unrelated' families and patients were attributable to 3 founder populations in the Netherlands, in stark contrast to 25 distinct SDHD mutations reported among 43 independent familial and nonfamilial cases in other parts of the world. <a href="#1" class="mim-tip-reference" title="Astrom, K., Cohen, J. E., Willett-Brozick, J. E., Aston, C. E., Baysal, B. E. &lt;strong&gt;Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.&lt;/strong&gt; Hum. Genet. 113: 228-237, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12811540/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12811540&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00439-003-0969-6&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12811540">Astrom et al. (2003)</a> interpreted this finding as suggesting that low altitudes in the Netherlands reduce penetrance and relax the natural selection on SDHD mutations. They studied the influence of altitude on the phenotype of PGL1 in 58 patients from 23 families. Patients who were diagnosed with single tumors at their first clinical evaluation lived at lower average altitudes and were exposed to lower altitude-years than those with multiple tumors (p less than 0.012). Nonsense/splicing mutation carriers developed symptoms 8.5 years earlier than missense mutation carriers (p less than 0.012). Pheochromocytomas developed in 6 patients, 5 of whom had nonsense mutations. Patients with pheochromocytomas also lived at higher average altitudes and were exposed to higher altitude-years than those without them. <a href="#1" class="mim-tip-reference" title="Astrom, K., Cohen, J. E., Willett-Brozick, J. E., Aston, C. E., Baysal, B. E. &lt;strong&gt;Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.&lt;/strong&gt; Hum. Genet. 113: 228-237, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12811540/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12811540&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00439-003-0969-6&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12811540">Astrom et al. (2003)</a> concluded that collectively, these data suggested that higher altitudes and nonsense/splicing mutations are associated with increased severity in PGL1 and supported the hypothesis that SDHD mutations impair oxygen sensing. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11897817+12811540" 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 a population-based genetic study of 334 unrelated patients with adrenal or extraadrenal pheochromocytomas and 83 patients with head and neck paragangliomas, <a href="#43" class="mim-tip-reference" title="Neumann, H. P. H., Pawlu, C., Peczkowska, M., Bausch, B., McWhinney, S. R., Muresan, M., Buchta, M., Franke, G., Klisch, J., Bley, T. A., Hoegerle, S., Boedeker, C. C., Opocher, G., Schipper, J., Januszewicz, A., Eng. C. &lt;strong&gt;Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.&lt;/strong&gt; JAMA 292: 943-951, 2004. Note: Erratum: JAMA 292: 1686 only, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15328326/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15328326&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/jama.292.8.943&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15328326">Neumann et al. (2004)</a> found that 12% of patients had a mutation in either the SDHB or SDHD gene, with equal distribution between the 2 genes (25 and 24 patients with mutations in the SDHB and SDHD genes, respectively). Mean age at diagnosis was similar between the 2 groups (approximately 30 years). Inheritance of SDHD mutations was consistent with maternal imprinting. Examination of relatives yielded a total of 32 and 34 manifesting carriers of SDHB and SDHD mutations, respectively. Multiple tumors occurred in 28% of SDHB carriers and 74% of SDHD carriers; adrenal pheochromocytomas occurred in 28% of SDHB carriers and 53% of SDHD carriers, whereas extraadrenal pheochromocytomas were identified in 48% of SDHB carriers and 21% of SDHD carriers; head and neck paragangliomas occurred in 31% of SDHB carriers and 79% of SDHD carriers; and malignancy occurred in 34% of SDHB carriers but no SDHD carriers. Two related SDHB carriers had renal cell carcinoma, and 1 SDHB and 1 SDHD carrier each had papillary thyroid carcinoma. Age-related penetrance for carriers of the 2 mutations was similar: SDHB and SDHD carriers showed 77% and 86% penetrance by age 50 years, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15328326" 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="#10" class="mim-tip-reference" title="Benn, D. E., Gimenez-Roqueplo, A.-P., Reilly, J. R., Bertherat, J., Burgess, J., Byth, K., Croxson, M., Dahia, P. L. M., Elston, M., Gimm, O., Henley, D., Herman, P., and 9 others. &lt;strong&gt;Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.&lt;/strong&gt; J. Clin. Endocr. Metab. 91: 827-836, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16317055/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16317055&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jc.2005-1862&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16317055">Benn et al. (2006)</a> determined genotype/phenotype associations in a cohort of patients with pheochromocytoma/paraganglioma syndromes and SDHB or SDHD mutations. SDHB mutation carriers were more likely than SDHD mutation carriers to develop extraadrenal pheochromocytomas and malignant disease, whereas SDHD mutation carriers had a greater propensity to develop head and neck paragangliomas and multiple tumors. For the index cases, there was no difference between 43 SDHB and 19 SDHD mutation carriers in the time to first diagnosis (34 vs 28 years, respectively; p = 0.3). However, when all 112 mutation carriers were included, the estimated age-related penetrance was different for SDHB versus SDHD mutation carriers (p = 0.008). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16317055" 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="populationGenetics" class="mim-anchor"></a>
<h4 href="#mimPopulationGeneticsFold" id="mimPopulationGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimPopulationGeneticsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
</div>
<div id="mimPopulationGeneticsFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#26" class="mim-tip-reference" title="Hensen, E. F., van Duinen, N., Jansen, J. C., Corssmit, E. P. M., Tops, C. M. J., Romijn, J. A., Vriends, A. H. J. T., van der Mey, A. G. L., Cornelisse, C. J., Devilee, P., Bayley, J. P. &lt;strong&gt;High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.&lt;/strong&gt; Clin. Genet. 81: 284-288, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21348866/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21348866&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2011.01653.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21348866">Hensen et al. (2012)</a> determined the mutation frequency of 4 succinate dehydrogenase genes in a total of 1,045 patients from 340 Dutch families with paraganglioma and pheochromocytoma. Mutations were identified in 690 cases from 239 families. The most commonly affected gene in mutation carriers was SDHD (87.1%), followed by SDHAF2 (6.7%), SDHB (5.9%), and SDHC (0.3%). Almost 70% of all carriers had the founder mutation D92Y (<a href="/entry/602690#0004">602690.0004</a>) in SDHD; approximately 89% of all SDH mutation carriers had 1 of 6 Dutch founder mutations. The dominance of SDHD mutations was unique to the Netherlands, contrasting with the higher prevalence of SDHB mutations found elsewhere. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21348866" 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="nomenclature" class="mim-anchor"></a>
<h4 href="#mimNomenclatureFold" id="mimNomenclatureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimNomenclatureToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
</div>
<div id="mimNomenclatureFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#53" class="mim-tip-reference" title="Strauchen, J. A. &lt;strong&gt;Germ-line mutations in nonsyndromic pheochromocytoma. (Letter)&lt;/strong&gt; New Eng. J. Med. 347: 854-855, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12226162/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12226162&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM200209123471117&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12226162">Strauchen (2002)</a> noted that the interchangeable use of 'paraganglioma' and 'glomus tumor' was a 'common point of confusion.' He emphasized that the glomus tumor is a tumor of modified perivascular smooth muscle, which frequently presents as a painful subungual mass, and is unrelated to tumors of the adrenal and extraadrenal paraganglia. Jugulotympanic paraganglioma is often referred to as a 'glomus jugulare tumor.' This tumor arises from minute, anatomically dispersed paraganglia located at the base of the skull and temporal bone and is closely related to similar tumors of the carotid body and other extraadrenal paraganglia. It is unrelated to the much more common glomus tumor of skin and soft tissue. See <a href="/entry/138000">138000</a> for an inherited form of smooth muscle tissue glomus tumors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12226162" 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="history" class="mim-anchor"></a>
<h4 href="#mimHistoryFold" id="mimHistoryToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimHistoryToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<div id="mimHistoryFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>The glomus jugulare was first discovered by Stacy R. Guild at Johns Hopkins in 1941 (Guild (<a href="#22" class="mim-tip-reference" title="Guild, S. R. &lt;strong&gt;A hitherto unrecognized structure, the glomus jugularis in man. (Abstract)&lt;/strong&gt; Anat. Rec. 79 (suppl. 2): 28 only, 1941."None>1941</a>, <a href="#23" class="mim-tip-reference" title="Guild, S. R. &lt;strong&gt;The glomus jugulare, a nonchromaffin paraganglion, in man.&lt;/strong&gt; Ann. Otol. Rhinol. Laryng. 62: 1045-1071, 1953.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13114831/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13114831&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1177/000348945306200411&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="13114831">1953</a>)). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13114831" 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">&#9660;</span>
<strong>See Also:</strong>
</span>
</h4>
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<a href="#Chase1933" class="mim-tip-reference" title="Chase, W. H. &lt;strong&gt;Familial and bilateral tumours of the carotid body.&lt;/strong&gt; J. Path. Bact. 36: 1-12, 1933.">Chase (1933)</a>; <a href="#Desai1961" class="mim-tip-reference" title="Desai, M. G., Patel, C. C. &lt;strong&gt;Heredo-familial carotid body tumours.&lt;/strong&gt; Clin. Radiol. 12: 214-217, 1961.">Desai and Patel (1961)</a>; <a href="#Gruber1980" class="mim-tip-reference" title="Gruber, H., Metson, R. &lt;strong&gt;Carotid body paraganglioma regression with relief of hypoxemia.&lt;/strong&gt; Ann. Intern. Med. 92: 800-802, 1980.">Gruber and Metson (1980)</a>; <a href="#Herrmann1977" class="mim-tip-reference" title="Herrmann, J. &lt;strong&gt;Delayed mutation model: carotid body tumors and retinoblastoma. In: Mulvihill, J. J.; Miller, R. W.; Fraumeni, J. F., Jr.: Genetics of Human Cancer.&lt;/strong&gt; New York: Raven Press (pub.) 1977. Pp. 417-438.">Herrmann (1977)</a>; <a href="#Heutink1994" class="mim-tip-reference" title="Heutink, P., van Schothorst, E. M., van der Mey, A. G. L., Bardoel, A., Breedveld, G., Pertijs, J., Sandkuijl, L. A., van Ommen, G.-J. B., Cornelisse, C. J., Oostra, B. A., Devilee, P. &lt;strong&gt;Further localization of the gene for hereditary paragangliomas and evidence for linkage in unrelated families.&lt;/strong&gt; Europ. J. Hum. Genet. 2: 148-158, 1994.">Heutink et al. (1994)</a>; <a href="#Katz1964" class="mim-tip-reference" title="Katz, A. D. &lt;strong&gt;Carotid body tumors in a large family group.&lt;/strong&gt; Am. J. Surg. 108: 570-573, 1964.">Katz (1964)</a>; <a href="#Knudson1986" class="mim-tip-reference" title="Knudson, A. G., Jr. &lt;strong&gt;Genetics of human cancer.&lt;/strong&gt; Annu. Rev. Genet. 20: 231-251, 1986.">Knudson (1986)</a>; <a href="#Lee1977" class="mim-tip-reference" title="Lee, S. P., Nicholson, G. I., Hitchcock, G. C. &lt;strong&gt;Familial abdominal chemodectomas with associated cutaneous angiolipomas.&lt;/strong&gt; Pathology 9: 173-177, 1977.">Lee et al. (1977)</a>; <a href="#Masuoka2001" class="mim-tip-reference" title="Masuoka, J., Brandner, S., Paulus, W., Soffer, D., Vital, A., Chimelli, L., Jouvet, A., Yonekawa, Y., Kleihues, P., Ohgaki, H. &lt;strong&gt;Germline SDHD mutation in paraganglioma of the spinal cord.&lt;/strong&gt; Oncogene 20: 5084-5086, 2001.">Masuoka et al. (2001)</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">&#9660;</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="Astrom2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Astrom, K., Cohen, J. E., Willett-Brozick, J. E., Aston, C. E., Baysal, B. E.
<strong>Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.</strong>
Hum. Genet. 113: 228-237, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12811540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12811540</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12811540" 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/s00439-003-0969-6" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="2" class="mim-anchor"></a>
<a id="Badenhop2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Badenhop, R. F., Cherian, S., Lord, R. S. A., Baysal, B. E., Taschner, P. E. M., Schofield, P. R.
<strong>Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.</strong>
Genes Chromosomes Cancer 31: 255-263, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11391796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11391796</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11391796" 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/gcc.1142" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="3" class="mim-anchor"></a>
<a id="Bartels1949" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bartels, J.
<strong>De tumoren van het glomus jugulare.</strong>
Thesis: Groningen (pub.) 1949.
</p>
</div>
</li>
<li>
<a id="4" class="mim-anchor"></a>
<a id="Baysal1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Baysal, B. E., Farr, J. E., Rubinstein, W. S., Galus, R. A., Johnson, K. A., Aston, C. E., Myers, E. N., Johnson, J. T., Carrau, R., Kirkpatrick, S. J., Myssiorek, D., Singh, D., Saha, S., Gollin, S. M., Evans, G. A., James, M. R., Richard, C. W., III.
<strong>Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23.</strong>
Am. J. Hum. Genet. 60: 121-132, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8981955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8981955</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8981955" 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="5" class="mim-anchor"></a>
<a id="Baysal2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Baysal, B. E., Ferrell, R. E., Willett-Brozick, J. E., Lawrence, E. C., Myssiorek, D., Bosch, A., van der May, A., Taschner, P. E. M., Rubinstein, W. S., Myers, E. N., Richard, C. W., III, Cornelisse, C. J., Devilee, P., Devlin, B.
<strong>Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.</strong>
Science 287: 848-851, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10657297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10657297</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10657297" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1126/science.287.5454.848" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Baysal1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Baysal, B. E., van Schothorst, E. M., Farr, J. E., Grashof, P., Myssiorek, D., Rubinstein, W. S., Taschner, P., Cornelisse, C. J., Devlin, B., Devilee, P., Richard, C. W., III.
<strong>Repositioning the hereditary paraganglioma critical region on chromosome band 11q23.</strong>
Hum. Genet. 104: 219-225, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10323245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10323245</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10323245" 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/s004390050939" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Baysal2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Baysal, B. E., Willett-Brozick, J. E., Lawrence, E. C., Drovdlic, C. M., Savul, S. A., McLeod, D. R., Yee, H. A., Brackmann, D. E., Slattery, W. H., III, Myers, E. N., Ferrell, R. E., Rubinstein, W. S.
<strong>Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.</strong>
J. Med. Genet. 39: 178-183, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11897817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11897817</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11897817" 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.39.3.178" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="Baysal2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Baysal, B. E.
<strong>Hereditary paraganglioma targets diverse paraganglia.</strong>
J. Med. Genet. 39: 617-622, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12205103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12205103</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12205103" 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.39.9.617" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Baysal2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Baysal, B. E.
<strong>Clinical and molecular progress in hereditary paraganglioma.</strong>
J. Med. Genet. 45: 689-694, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18978332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18978332</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18978332" 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.2008.058560" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="10" class="mim-anchor"></a>
<a id="Benn2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Benn, D. E., Gimenez-Roqueplo, A.-P., Reilly, J. R., Bertherat, J., Burgess, J., Byth, K., Croxson, M., Dahia, P. L. M., Elston, M., Gimm, O., Henley, D., Herman, P., and 9 others.
<strong>Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.</strong>
J. Clin. Endocr. Metab. 91: 827-836, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16317055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16317055</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16317055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1210/jc.2005-1862" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="11" class="mim-anchor"></a>
<a id="Cascon2023" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cascon, A., Calsina, B., Monteagudo, M., Mellid, S., Diaz-Talavera, A., Curras-Freixes, M., Robledo, M.
<strong>Genetic bases of pheochromocytoma and paraganglioma.</strong>
J. Molec. Endocr. 70: e220167, 2023.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36520714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36520714</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36520714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1530/JME-22-0167" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="Cascon2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cascon, A., Ruiz-Llorente, S., Cebrian, A., Telleria, D., Rivero, J. C., Diez, J. J., Lopez-Ibarra, P., Jaunsolo, M. A., Benitez, J., Robledo, M.
<strong>Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.</strong>
Europ. J. Hum. Genet. 10: 457-461, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12111639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12111639</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12111639" 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/sj.ejhg.5200829" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="13" class="mim-anchor"></a>
<a id="Chase1933" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chase, W. H.
<strong>Familial and bilateral tumours of the carotid body.</strong>
J. Path. Bact. 36: 1-12, 1933.
</p>
</div>
</li>
<li>
<a id="14" class="mim-anchor"></a>
<a id="Chedid1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chedid, A., Jao, W.
<strong>Hereditary tumors of the carotid bodies and chronic obstructive pulmonary disease.</strong>
Cancer 33: 1635-1641, 1974.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4366403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4366403</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4366403" 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(197406)33:6&lt;1635::aid-cncr2820330625&gt;3.0.co;2-j" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="15" class="mim-anchor"></a>
<a id="DeAngelis1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
DeAngelis, L. M., Kelleher, M. B., Post, K. D., Fetell, M. R.
<strong>Multiple paragangliomas in neurofibromatosis: a new neuroendocrine neoplasia.</strong>
Neurology 37: 129-133, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2879257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2879257</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2879257" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/wnl.37.1.129" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="16" class="mim-anchor"></a>
<a id="Desai1961" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Desai, M. G., Patel, C. C.
<strong>Heredo-familial carotid body tumours.</strong>
Clin. Radiol. 12: 214-217, 1961.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13722111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13722111</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13722111" 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/s0009-9260(61)80012-3" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="17" class="mim-anchor"></a>
<a id="Devilee1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Devilee, P., Heutink, P., van der Mey, A. G. L., Oostra, B. A., van Ommen, G. J.-B., Cornelisse, C. J.
<strong>Mapping the genomically imprinted gene responsible for hereditary paragangliomas on 11q. (Abstract)</strong>
Am. J. Hum. Genet. 51 (suppl.): A61 only, 1992.
</p>
</div>
</li>
<li>
<a id="18" class="mim-anchor"></a>
<a id="Devilee1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Devilee, P., van Schothorst, E. M., Bardoel, A. F. J., Bonsing, B., Kuipers-Dijkshoorn, N., James, M. R., Fleuren, G., van der Mey, A. G. L., Cornelisse, C. J.
<strong>Allelotype of head and neck paragangliomas: allelic imbalance is confined to the long arm of chromosome 11, the site of the predisposing locus PGL.</strong>
Genes Chromosomes Cancer 11: 71-78, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7529551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7529551</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7529551" 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/gcc.2870110202" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="19" class="mim-anchor"></a>
<a id="Gimm2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gimm, O., Armanios, M., Dziema, H., Neumann, H. P. H., Eng, C.
<strong>Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.</strong>
Cancer Res. 60: 6822-6825, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11156372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11156372</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11156372" 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="Gruber1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gruber, H., Metson, R.
<strong>Carotid body paraganglioma regression with relief of hypoxemia.</strong>
Ann. Intern. Med. 92: 800-802, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7387023/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7387023</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7387023" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.7326/0003-4819-92-6-800" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="21" class="mim-anchor"></a>
<a id="Grufferman1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Grufferman, S., Gillman, M. W., Pasternak, L. R., Peterson, C. L., Young, W. G., Jr.
<strong>Familial carotid body tumors: case report and epidemiologic review.</strong>
Cancer 46: 2116-2122, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7000334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7000334</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7000334" 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(19801101)46:9&lt;2116::aid-cncr2820460934&gt;3.0.co;2-s" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="22" class="mim-anchor"></a>
<a id="Guild1941" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Guild, S. R.
<strong>A hitherto unrecognized structure, the glomus jugularis in man. (Abstract)</strong>
Anat. Rec. 79 (suppl. 2): 28 only, 1941.
</p>
</div>
</li>
<li>
<a id="23" class="mim-anchor"></a>
<a id="Guild1953" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Guild, S. R.
<strong>The glomus jugulare, a nonchromaffin paraganglion, in man.</strong>
Ann. Otol. Rhinol. Laryng. 62: 1045-1071, 1953.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13114831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13114831</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13114831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1177/000348945306200411" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="24" class="mim-anchor"></a>
<a id="Heesterman2013" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Heesterman, B. L., Bayley, J. P., Tops, C. M., Hes, F. J., van Brussel, B. T. J., Corssmit, E. P. M., Hamming, J. F., van der Mey, A. G. L., Jansen, J. C.
<strong>High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations.</strong>
Europ. J. Hum. Genet. 21: 469-470, 2013.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22948026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22948026</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22948026" 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/ejhg.2012.203" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="25" class="mim-anchor"></a>
<a id="Hensen2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hensen, E. F., Jansen, J. C., Siemers, M. D., Ossterwijk, J. C., Vriends, A. H. J. T., Corssmit, E. P. M., Bayley, J.-P., van der Mey, A. G. L., Cornelisse, C. J., Devilee, P.
<strong>The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family.</strong>
Europ. J. Hum. Genet. 18: 62-66, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19584903/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19584903</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19584903[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=19584903" 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/ejhg.2009.112" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="26" class="mim-anchor"></a>
<a id="Hensen2012" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hensen, E. F., van Duinen, N., Jansen, J. C., Corssmit, E. P. M., Tops, C. M. J., Romijn, J. A., Vriends, A. H. J. T., van der Mey, A. G. L., Cornelisse, C. J., Devilee, P., Bayley, J. P.
<strong>High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.</strong>
Clin. Genet. 81: 284-288, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21348866/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21348866</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21348866" 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.1399-0004.2011.01653.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="27" class="mim-anchor"></a>
<a id="Herrmann1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Herrmann, J.
<strong>Delayed mutation model: carotid body tumors and retinoblastoma. In: Mulvihill, J. J.; Miller, R. W.; Fraumeni, J. F., Jr.: Genetics of Human Cancer.</strong>
New York: Raven Press (pub.) 1977. Pp. 417-438.
</p>
</div>
</li>
<li>
<a id="28" class="mim-anchor"></a>
<a id="Heutink1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Heutink, P., van der Mey, A. G. L., Sandkuijl, L. A., van Gils, A. P. G., Bardoel, A., Breedveld, G. J., van Vliet, M., van Ommen, G.-J. B., Cornelisse, C. J., Oostra, B. A., Weber, J. L., Devilee, P.
<strong>A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter.</strong>
Hum. Molec. Genet. 1: 7-10, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1301144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1301144</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1301144" 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/hmg/1.1.7" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="29" class="mim-anchor"></a>
<a id="Heutink1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Heutink, P., van Schothorst, E. M., van der Mey, A. G. L., Bardoel, A., Breedveld, G., Pertijs, J., Sandkuijl, L. A., van Ommen, G.-J. B., Cornelisse, C. J., Oostra, B. A., Devilee, P.
<strong>Further localization of the gene for hereditary paragangliomas and evidence for linkage in unrelated families.</strong>
Europ. J. Hum. Genet. 2: 148-158, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7834274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7834274</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7834274" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1159/000472358" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="30" class="mim-anchor"></a>
<a id="Karasov1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Karasov, R. S., Sheps, S. G., Carney, J. A., van Heerden, J. A., DeQuattro, V.
<strong>Paragangliomatosis with numerous catecholamine-producing tumors.</strong>
Mayo Clin. Proc. 57: 590-595, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6213823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6213823</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6213823" 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="Katz1964" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Katz, A. D.
<strong>Carotid body tumors in a large family group.</strong>
Am. J. Surg. 108: 570-573, 1964.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14211450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14211450</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14211450" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0002-9610(64)90157-6" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="32" class="mim-anchor"></a>
<a id="Khafagi1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Khafagi, F., Egerton-Vernon, J., van Doorn, T., Foster, W., McPhee, I. B., Allison, R. W. G.
<strong>Localization and treatment of familial malignant nonfunctional paraganglioma with iodine-131 MIBG: report of two cases.</strong>
J. Nucl. Med. 28: 528-531, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2437268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2437268</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2437268" 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="33" class="mim-anchor"></a>
<a id="Knudson1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Knudson, A. G., Jr.
<strong>Genetics of human cancer.</strong>
Annu. Rev. Genet. 20: 231-251, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2880556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2880556</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2880556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1146/annurev.ge.20.120186.001311" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="34" class="mim-anchor"></a>
<a id="Kroll1964" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kroll, A. J., Alexander, B., Cochios, F., Pechet, L.
<strong>Hereditary deficiencies of clotting factors VII and X associated with carotid-body tumors.</strong>
New Eng. J. Med. 270: 6-13, 1964.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14062129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14062129</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14062129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM196401022700102" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="35" class="mim-anchor"></a>
<a id="Ladenheim1961" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ladenheim, J. C., Sachs, E., Jr.
<strong>Familial tumors of the 'glomus jugulare': report of 2 cases, with a note on the vascular origin of the glomera.</strong>
Neurology 11: 303-309, 1961.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13758152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13758152</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13758152" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/wnl.11.4.303" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="36" class="mim-anchor"></a>
<a id="Lee1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lee, S. P., Nicholson, G. I., Hitchcock, G. C.
<strong>Familial abdominal chemodectomas with associated cutaneous angiolipomas.</strong>
Pathology 9: 173-177, 1977.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/195258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">195258</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=195258" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.3109/00313027709085255" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="37" class="mim-anchor"></a>
<a id="Leube2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Leube, B., Huber, R., Goecke, T. O., Sandmann, W., Royer-Pokora, B.
<strong>SDHD mutation analysis in seven German patients with sporadic carotid body paraganglioma: one novel mutation, no Dutch founder mutation and further evidence that G12S is a polymorphism. (Letter)</strong>
Clin. Genet. 65: 61-63, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15032977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15032977</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15032977" 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..2004.00174.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="38" class="mim-anchor"></a>
<a id="Mariman1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mariman, E. C. M., van Beersum, S. E. C., Cremers, C. W. R. J., Struycken, P. M., Ropers, H. H.
<strong>Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity.</strong>
Hum. Genet. 95: 56-62, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7814027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7814027</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7814027" 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/BF00225075" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="39" class="mim-anchor"></a>
<a id="Masuoka2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Masuoka, J., Brandner, S., Paulus, W., Soffer, D., Vital, A., Chimelli, L., Jouvet, A., Yonekawa, Y., Kleihues, P., Ohgaki, H.
<strong>Germline SDHD mutation in paraganglioma of the spinal cord.</strong>
Oncogene 20: 5084-5086, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11526495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11526495</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11526495" 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/sj.onc.1204579" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="40" class="mim-anchor"></a>
<a id="Mhatre2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mhatre, A. N., Li, Y., Feng, L., Gasperin, A., Lalwani, A. K.
<strong>SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas.</strong>
Clin. Genet. 66: 461-466, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15479192/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15479192</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15479192" 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.1399-0004.2004.00328.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="41" class="mim-anchor"></a>
<a id="Milunsky1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Milunsky, J., DeStefano, A. L., Huang, X.-L., Baldwin, C. T., Michels, V. V., Jako, G., Milunsky, A.
<strong>Familial paragangliomas: linkage to chromosome 11q23 and clinical implications.</strong>
Am. J. Med. Genet. 72: 66-70, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9295078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9295078</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9295078" 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/(sici)1096-8628(19971003)72:1&lt;66::aid-ajmg14&gt;3.0.co;2-s" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="42" class="mim-anchor"></a>
<a id="Milunsky2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Milunsky, J. M., Maher, T. A., Michels, V. V., Milunsky, A.
<strong>Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.</strong>
Am. J. Med. Genet. 100: 311-314, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11343322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11343322</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11343322" 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.1270" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="43" class="mim-anchor"></a>
<a id="Neumann2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Neumann, H. P. H., Pawlu, C., Peczkowska, M., Bausch, B., McWhinney, S. R., Muresan, M., Buchta, M., Franke, G., Klisch, J., Bley, T. A., Hoegerle, S., Boedeker, C. C., Opocher, G., Schipper, J., Januszewicz, A., Eng. C.
<strong>Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.</strong>
JAMA 292: 943-951, 2004. Note: Erratum: JAMA 292: 1686 only, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15328326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15328326</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15328326" 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/jama.292.8.943" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="44" class="mim-anchor"></a>
<a id="Nissenblatt1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Nissenblatt, M. J.
<strong>Cyanotic heart disease: 'low altitude' risk for carotid body tumor?</strong>
Johns Hopkins Med. J. 142: 18-22, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/625092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">625092</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=625092" 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="45" class="mim-anchor"></a>
<a id="Oosterwijk1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Oosterwijk, J. C., Jansen, J. C., van Schothorst, E. M., Oosterhof, A. W., Devilee, P., Bakker, E., Zoeteweij, M. W., van der Mey, A. G. L.
<strong>First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas).</strong>
J. Med. Genet. 33: 379-383, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733047</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733047" 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.33.5.379" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="46" class="mim-anchor"></a>
<a id="Parkin1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Parkin, J. L.
<strong>Familial multiple glomus tumors and pheochromocytomas.</strong>
Ann. Otol. Rhinol. Laryng. 90: 60-63, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6258467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6258467</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6258467" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1177/000348948109000115" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="47" class="mim-anchor"></a>
<a id="Parry1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Parry, D. M., Li, F. P., Strong, L. C., Carney, J. A., Schottenfeld, D., Reimer, R. R., Grufferman, S.
<strong>Carotid body tumors in humans: genetics and epidemiology.</strong>
J. Nat. Cancer Inst. 68: 573-578, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6951072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6951072</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6951072" 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="48" class="mim-anchor"></a>
<a id="Pigny2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pigny, P., Vincent, A., Bauters, C. C., Bertrand, M., de Montpreville, V. T., Crepin, M., Porchet, N., Caron, P.
<strong>Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation.</strong>
J. Clin. Endocr. Metab. 93: 1609-1615, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18211978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18211978</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18211978" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1210/jc.2007-1989" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="49" class="mim-anchor"></a>
<a id="Pratt1973" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pratt, L. W.
<strong>Familial carotid body tumors.</strong>
Arch. Otolaryng. 97: 334-336, 1973.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4699542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4699542</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4699542" 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/archotol.1973.00780010344011" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="50" class="mim-anchor"></a>
<a id="Prontera2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Prontera, P., Ferrando, B., Giuliani, V., Falcinelli, F., Mencarelli, A., Rogaia, D., Pasini, B, Donti, E.
<strong>A novel mutation in the SDHD gene responsible for familial paraganglioma. Medical and psychological implications.</strong>
Genet. Counsel. 19: 413-418, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19239085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19239085</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19239085" 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="51" class="mim-anchor"></a>
<a id="Resler1966" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Resler, D. R., Snow, J. B., Williams, G. R.
<strong>Multiplicity and familial incidence of carotid body and glomus jugulare tumors.</strong>
Ann. Otol. Rhinol. Laryng. 75: 114-122, 1966.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4286420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4286420</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4286420" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1177/000348946607500109" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="52" class="mim-anchor"></a>
<a id="Rosen1952" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Rosen, S.
<strong>Glomus jugulare tumor of the middle ear with normal drum, improved biopsy technique.</strong>
Ann. Otol. Rhinol. Laryng. 61: 448-451, 1952.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14944141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14944141</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14944141" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1177/000348945206100214" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="53" class="mim-anchor"></a>
<a id="Strauchen2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Strauchen, J. A.
<strong>Germ-line mutations in nonsyndromic pheochromocytoma. (Letter)</strong>
New Eng. J. Med. 347: 854-855, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12226162/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12226162</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12226162" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM200209123471117" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="54" class="mim-anchor"></a>
<a id="van Baars1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
van Baars, F., Cremers, C., van den Broek, P., Geerts, S., Veldman, J.
<strong>Genetic aspects of nonchromaffin paraganglioma.</strong>
Hum. Genet. 60: 305-309, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6286462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6286462</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6286462" 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/BF00569208" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="55" class="mim-anchor"></a>
<a id="van der Mey1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
van der Mey, A. G., Maaswinkel-Mooy, P. D., Cornelisse, C. J., Schmidt, P. H., van de Kamp, J. J.
<strong>Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory.</strong>
Lancet 334: 1291-1294, 1989. Note: Originally Volume II.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2574254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2574254</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2574254" 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/s0140-6736(89)91908-9" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="56" class="mim-anchor"></a>
<a id="van Schothorst1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
van Schothorst, E. M., Beekman, M., Torremans, P., Kuipers-Dijkshoorn, N. J., Wessels, H. W., Bardoel, A. F. J., van der Mey, A. G. L., van der Vijver, M. J., van Ommen, G.-J. B., Devilee, P., Cornelisse, C. J.
<strong>Paragangliomas of the head and neck region show complete loss of heterozygosity at 11q22-q23 in chief cells and the flow-sorted DNA aneuploid fraction.</strong>
Hum. Path. 29: 1045-1049, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9781639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9781639</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9781639" 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(98)90411-7" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="57" class="mim-anchor"></a>
<a id="van Schothorst1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
van Schothorst, E. M., Jansen, J. C., Grooters, E., Prins, D. E. M., Wiersinga, J. J., van der Mey, A. G. L., van Ommen, G.-J. B., Devilee, P., Cornelisse, C. J.
<strong>Founder effect at PGL1 in hereditary head and neck paraganglioma families from The Netherlands.</strong>
Am. J. Hum. Genet. 63: 468-473, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683583</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9683583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/301951" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="58" class="mim-anchor"></a>
<a id="Wilson1970" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wilson, H.
<strong>Carotid body tumors: familial and bilateral.</strong>
Ann. Surg. 171: 843-848, 1970.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5420930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5420930</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5420930" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1097/00000658-197006010-00004" 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">
Cassandra L. Kniffin - updated : 5/8/2013
</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">
Cassandra L. Kniffin - updated : 4/11/2012<br>Cassandra L. Kniffin - updated : 5/14/2010<br>Cassandra L. Kniffin - updated : 3/9/2010<br>Ada Hamosh - updated : 9/15/2009<br>John A. Phillips, III - updated : 2/26/2009<br>Cassandra L. Kniffin - updated : 1/5/2009<br>John A. Phillips, III - updated : 4/9/2007<br>Victor A. McKusick - updated : 4/28/2005<br>Cassandra L. Kniffin - reorganized : 1/31/2005<br>Cassandra L. Kniffin - updated : 1/19/2005<br>Victor A. McKusick - updated : 8/13/2003<br>Michael B. Petersen - updated : 6/23/2003<br>Victor A. McKusick - updated : 9/30/2002<br>Victor A. McKusick - updated : 2/6/2002<br>Victor A. McKusick - updated : 12/10/2001<br>Sonja A. Rasmussen - updated : 6/13/2001<br>Ada Hamosh - updated : 2/2/2000<br>Victor A. McKusick - updated : 1/10/2000<br>Victor A. McKusick - updated : 4/26/1999<br>Victor A. McKusick - updated : 1/20/1999<br>Victor A. McKusick - updated : 7/16/1998<br>Victor A. McKusick - updated : 10/3/1997<br>Moyra Smith - updated : 1/27/1997
</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">
carol : 10/17/2023
</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">
ckniffin : 10/11/2023<br>carol : 04/21/2023<br>alopez : 06/24/2019<br>alopez : 06/21/2019<br>ckniffin : 06/14/2019<br>carol : 08/23/2016<br>carol : 05/23/2016<br>carol : 5/20/2013<br>ckniffin : 5/8/2013<br>alopez : 4/13/2012<br>alopez : 4/13/2012<br>terry : 4/11/2012<br>ckniffin : 4/11/2012<br>wwang : 8/16/2011<br>ckniffin : 8/15/2011<br>wwang : 5/24/2010<br>ckniffin : 5/14/2010<br>wwang : 4/7/2010<br>ckniffin : 3/9/2010<br>alopez : 9/17/2009<br>terry : 9/15/2009<br>alopez : 2/26/2009<br>terry : 2/6/2009<br>wwang : 2/5/2009<br>ckniffin : 1/5/2009<br>carol : 4/9/2007<br>carol : 5/1/2006<br>tkritzer : 5/12/2005<br>terry : 4/28/2005<br>carol : 1/31/2005<br>ckniffin : 1/19/2005<br>ckniffin : 3/23/2004<br>carol : 3/9/2004<br>tkritzer : 2/27/2004<br>cwells : 11/6/2003<br>tkritzer : 8/18/2003<br>terry : 8/13/2003<br>cwells : 6/23/2003<br>mgross : 10/1/2002<br>carol : 9/30/2002<br>ckniffin : 5/15/2002<br>alopez : 2/6/2002<br>carol : 12/10/2001<br>mcapotos : 6/13/2001<br>mcapotos : 6/13/2001<br>alopez : 10/31/2000<br>alopez : 2/3/2000<br>terry : 2/2/2000<br>mgross : 1/10/2000<br>carol : 11/8/1999<br>mgross : 5/12/1999<br>terry : 5/5/1999<br>mgross : 4/28/1999<br>terry : 4/26/1999<br>carol : 1/29/1999<br>terry : 1/20/1999<br>carol : 12/15/1998<br>terry : 8/5/1998<br>terry : 7/16/1998<br>jenny : 10/7/1997<br>terry : 10/3/1997<br>mark : 2/12/1997<br>mark : 2/12/1997<br>terry : 2/5/1997<br>terry : 1/27/1997<br>mark : 1/24/1997<br>mark : 7/9/1996<br>terry : 6/28/1996<br>terry : 3/3/1995<br>carol : 2/6/1995<br>mimadm : 1/14/1995<br>pfoster : 4/27/1994<br>warfield : 4/12/1994<br>carol : 7/12/1993
</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> 168000
</span>
</h3>
</div>
<div>
<h3>
<span class="mim-font">
PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 1; PPGL1
</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">
PARAGANGLIOMAS 1; PGL1<br />
PARAGANGLIOMAS, FAMILIAL, 1<br />
PARAGANGLIOMATA; PGL<br />
GLOMUS TUMORS, FAMILIAL, 1<br />
CHEMODECTOMAS<br />
CAROTID BODY TUMORS; CBT1<br />
GLOMUS JUGULARE TUMORS<br />
PARAGANGLIOMA, CAROTID BODY<br />
PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<p>
<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 127030001, 302834008, 51747000; &nbsp;
<strong>ORPHA:</strong> 29072; &nbsp;
<strong>DO:</strong> 0050773; &nbsp;
</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">
11q23.1
</span>
</td>
<td>
<span class="mim-font">
Pheochromocytoma/paraganglioma syndrome 1
</span>
</td>
<td>
<span class="mim-font">
168000
</span>
</td>
<td>
<span class="mim-font">
Autosomal dominant
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
SDHD
</span>
</td>
<td>
<span class="mim-font">
602690
</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 pheochromocytoma/paraganglioma syndrome-1 (PPGL1) is caused by heterozygous mutation in the SDHD gene (602690), which encodes the small subunit of cytochrome B in succinate-ubiquinone oxidoreductase, on chromosome 11q23.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Pheochromocytoma/paraganglioma syndrome-1 (PPGL1) is an autosomal dominant disorder characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas arise from chromaffin cells in the adrenal medulla, whereas paragangliomas arise in extra-adrenal sympathetic ganglia in the thorax, abdomen, and pelvis or from parasympathetic paraganglia in the head and neck area (summary by Cascon et al., 2023). </p><p>Paragangliomas, also referred to as 'glomus body tumors,' are tumors derived from paraganglia located throughout the body. Nonchromaffin types primarily serve as chemoreceptors (hence, the tumor name 'chemodectomas') and are located in the head and neck region (i.e., carotid body, jugular, vagal, and tympanic regions), whereas chromaffin types have endocrine activity, conventionally referred to as 'pheochromocytomas,' and are usually located below the head and neck (i.e., adrenal medulla and pre- and paravertebral thoracoabdominal regions). PPGL can manifest as nonchromaffin head and neck tumors only, adrenal and/or extraadrenal pheochromocytomas only, or a combination of the 2 types of tumors (Baysal, 2002; Neumann et al., 2004). </p><p>The triad of gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma constitutes a syndrome that occurs mainly in young women and is known as the Carney triad (604287). This triad is not to be confused with the other Carney syndrome of myxoma, spotty pigmentation, and endocrinopathy (160980).</p><p>Baysal (2008) provided a review of the molecular pathogenesis of hereditary paraganglioma. </p><p><strong><em>Genetic Heterogeneity of Pheochromocytoma/Paraganglioma Syndrome</em></strong></p><p>
See also PPGL2 (601650), caused by mutation in the SDHAF2 gene (613019) on chromosome 11q13; PPGL3 (605373), caused by mutation in the SDHC gene (602413) on chromosome 1q21; PPGL4 (115310), caused by mutation in the SDHB gene (185470) on chromosome 1p36; PPGL5 (614165), caused by mutation in the SDHA gene (600857) on chromosome 5p15; PPGL6 (618464), caused by mutation in the SLC25A11 gene (604165) on chromosome 17p13; and PPGL7 (618475), caused by mutation in the DLST gene (126063) on chromosome 14q24.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Kroll et al. (1964) found carotid body tumors in 12 members of a family in an autosomal dominant pattern of inheritance. Resler et al. (1966) reported a patient with bilateral carotid body tumors and a glomus jugulare tumor. The authors noted that familial carotid body tumors tended to be multiple. Familial glomus jugulare tumors were likely described in 3 affected sisters reported in 1937 by Goekoop (cited by Rosen, 1952). Also see Ladenheim and Sachs (1961). Bartels (1949) identified carotid body tumors in members of 3 successive generations of a family. </p><p>Wilson (1970) reviewed familial reports of carotid body tumors and described a family with male-to-male transmission and a skipped generation. Pratt (1973) reviewed the literature and reported 8 new cases of either unilateral or bilateral carotid body tumors in 4 generations of a kindred. In 1 generation of this family, 4 sisters had bilateral tumors and 1 brother had unilateral tumors. None of the 8 tumors reported were malignant. Chedid and Jao (1974) identified carotid body tumors in 6 members of 2 consecutive generations of a family. Four also had chronic obstructive pulmonary disease with persistently high arterial pCO(2) and low pO(2). The authors theorized that the tumors started as hyperplasia secondary to the stimulus of these altered blood gases. Nissenblatt (1978) reported a young woman with hypoplastic right heart syndrome who developed a carotid body tumor at age 28 years. He suggested a connection between low-oxygen situations such as high altitude living, emphysema, and cyanotic congenital heart disease, and the development of carotid body tumors. </p><p>Grufferman et al. (1980) reported 2 sisters with carotid body tumors and reviewed reports of 88 familial and 835 nonfamilial CBT cases. Familial cases had an equal sex ratio and followed autosomal dominant inheritance. Bilateral disease occurred in 31.8% of familial cases and 4.4% of sporadic cases. Six percent of all patients developed second primary tumors, mostly other paragangliomas. Parry et al. (1982) reviewed the records of 222 histologically diagnosed cases of carotid body tumors, including 146 females and 76 males. The mean age at tumor development was 44.7 years. In 16 patients who had other extraadrenal paragangliomas, suggesting a multiple primary tumor syndrome, the diagnosis occurred earlier (mean, 35.4 years; p less than 0.01). Five patients also developed thyroid cancer. Familial cases were more often bilateral and diagnosed slightly earlier. </p><p>Van Baars et al. (1982) provided a review of the literature of familial nonchromaffin paragangliomas. Carotid body tumors were the most common, followed by glomus jugulare, glomus vagale, and glomus tympanicum. </p><p>Parkin (1981) reported 2 unrelated families with a hereditary syndrome of pheochromocytoma associated with multiple glomus tumors of the head and neck. DeAngelis et al. (1987) reported the occurrence of pheochromocytoma and multiple paragangliomas in a patient with neurofibromatosis (162200). Karasov et al. (1982) described a sporadic case of a girl with a record number of 21 paragangliomas removed between the ages of 13 and 17 years, with evidence of remaining tumors. The tumors were catecholamine-producing. Khafagi et al. (1987) reported 2 unrelated adults, both of whom had a positive family history of paraganglioma. Both had malignant nonfunctional paragangliomas detected by uptake of iodine-131 metaiodobenzylguanidine; this agent proved to be of therapeutic value in the management of unresectable metastases. </p><p>Van Schothorst et al. (1998) reported 10 families with head and neck paragangliomas who originated from the same geographic region in the Netherlands. The carotid bifurcation was the most frequently affected site (57% of all head and neck tumors), and multiple paragangliomas occurred in 66% of patients. Three patients from different families developed a pheochromocytoma. No affected offspring of female carriers was observed, and all affected family members received the disease gene from their father. </p><p>Prontera et al. (2008) reported an Italian family with PGL1. The proband was a 49-year-old man who presented with throat pain, dysphonia, dyspnea, and mild hypertension, and was found to have bilateral carotid chemodectomas with multiple highly vascularized laryngeal and carotid paragangliomas. Family history revealed that the father, who died at age 71 of lung cancer, was diagnosed at age 66 with bilateral paragangliomas in the pericarotid region. The 55-year-old sister of the proband developed multiple laryngeal and carotid paragangliomas at age 52. The proband and his sister both carried a heterozygous truncating mutation in the SDHD gene. </p><p>Hensen et al. (2010) used the Kaplan-Meier method to calculate the age-specific penetrance of paragangliomas in 243 members of a large 7-generation Dutch family (Oosterwijk et al., 1996) with PGL1 caused by a founder mutation in the SDHD gene (D92Y; 602690.0004). The age at onset of symptoms ranged from 14 to 47 years. By clinical signs and symptoms alone, the penetrance reached a maximum of 57% by age 47 years. When MRI detection of occult paragangliomas was included, penetrance was estimated at 54% by age 40, 68% by age 60, and 87% by age 70. Multiple tumors were found in 65%, and 8% of paraganglioma patients had pheochromocytomas. One (3%) patient developed a malignant paraganglioma. None of 11 instances of maternal transmission of the mutation resulted in the development of paragangliomas. The findings indicated that the majority of mutation carriers will eventually develop head and neck paragangliomas, although Hensen et al. (2010) stated that the penetrance in this study was lower than some previous estimates. Hensen et al. (2010) emphasized the importance of including clinically unaffected mutation carriers in estimates of penetrance. </p><p>Among 47 asymptomatic carriers of SDHD mutations screened by physical examination or MRI, Heesterman et al. (2013) found that 28 (59.6%) carried a total of 57 tumors, including 38 carotid body tumors, 17 vagal body tumors, and 2 jugulotympanic tumors. Multiple tumors were seen in 34% of patients. Two patients (4.3%) had a sympathetic paraganglioma. The report indicated that a high percentage of asymptomatic SDHD mutation carriers have occult head and neck paragangliomas. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p><strong><em>Maternal Imprinting</em></strong></p><p>
From a study of 15 pedigrees, van der Mey et al. (1989) concluded that familial paragangliomas, which they referred to as hereditary glomus tumors, were inherited almost exclusively through the paternal line, a finding inconsistent with simple autosomal dominant transmission. They suggested a role for genomic imprinting, in which the maternally derived gene is inactivated during female oogenesis and can be reactivated only during spermatogenesis. Heutink et al. (1992) stated that all individuals with hereditary paragangliomas had inherited the disease gene from their father; expression of the phenotype was not observed in the offspring of an affected female until subsequent transmission of the gene through a male carrier. The observations strongly suggested genomic imprinting. </p><p>Baysal et al. (1997) noted that the age of onset of symptoms was significantly different between fathers and children: affected children had an earlier age of onset in 39 of 57 father-child pairs. </p><p><strong><em>Maternal Inheritance</em></strong></p><p>
Pigny et al. (2008) reported what they believed to be the first description of a paraganglioma kindred with maternal transmission of the mutated SDHD (602690) allele. A boy received the W43X mutation (602690.0023) from his mother and developed a glomus tympanicum paraganglioma at 11 years of age. He shared only the 11q23 haplotype with the other affected members of the family. Pigny et al. (2008) concluded that maternal transmission of a SDHD-linked paraganglioma, even if a rare event, can occur. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In a large Dutch pedigree with hereditary paragangliomas, Heutink et al. (1992) found linkage with marker D11S147 located at chromosome 11q23-qter (maximum lod score of 6.0 at theta = 0.0 ). Likelihood calculations yielded a very high odds ratio in favor of genomic imprinting versus absence of genomic imprinting. Devilee et al. (1992) performed haplotyping in this large Dutch family using 15 markers in the region 11q13-q23. Two recombination events placed the PGL locus distal to STMY (185260) and proximal to D11S836, thus excluding the oncogenes INT2 (164950) and ETS1 (164720) as the site of the mutation. In an affected PGL family that showed imprinting, Mariman et al. (1995) found linkage to the locus on distal 11q. </p><p>In patients with familial nonchromaffin paragangliomas, Devilee et al. (1994) found loss of heterozygosity (LOH) only on chromosome 11, with a marked clustering on the distal half of the long arm. In all 8 cases in which they could determine the parental origin, the allele undergoing loss was maternally derived. However, LOH in all tumors was only partial, and it was not clear whether this represented an allelic imbalance or cellular heterogeneity. In a later study, van Schothorst et al. (1998) performed LOH analysis for the 11q22-q23 region on DNA-aneuploid tumor cells, enriched by flow sorting, and on purified chief cell fractions obtained by single-cell microdissection. Complete LOH was found in both types of cells, indicating that the chief cells were clonal proliferated tumor cells. </p><p>Oosterwijk et al. (1996) gave the location of the PGL1 gene as 11q22.3-q23. They offered genetic counseling on the basis of DNA linkage diagnosis in an extended Dutch pedigree. Presymptomatic testing of the paternal allele was performed in 16 cases; 4 of these appeared to have the at-risk haplotype and in 2 of the 4 a glomus tumor was subsequently detected on MRI. In 1 case linkage results were inconclusive because of recombination and 1 person did not want to learn his test result. The maternal allele was tested for carrier status in 4 cases of which 1 appeared to be a carrier. </p><p>Baysal et al. (1997) reported linkage of paraganglioma to chromosome 11q23 in 3 of 6 North American families. Recombinants narrowed the critical region to a 4.5-Mb interval flanked by the markers D11S1647 and D11S622. Partial allelic loss of strictly maternal origin was detected in 5 of 19 tumors. Milunsky et al. (1997) confirmed linkage to 11q23 in studies of 3 affected families. The inheritance pattern was consistent with genetic imprinting; the disorder was transmitted only by males. </p><p>Another 10 families with hereditary head and neck paragangliomas were ascertained by van Schothorst et al. (1998) from the same geographic region as that from which the large PGL1-linked Dutch family originated (Heutink et al., 1992). They determined the disease-linked haplotype, as defined by 13 markers encompassing a large interval on 11q21-q23, in these families and showed that alleles were identical for 6 contiguous markers spanning a genetic distance of 6 cM and containing PGL1. Despite this strong indication of a common ancestor, no kinship between the families could be demonstrated through genealogic surveys going back to 1800. Baysal et al. (1999) reevaluated the haplotype data of the multigenerational Dutch PGL1-linked family, using 2 additional single tandem repeat polymorphisms (STRPs) contained within the PGL1 critical interval proposed by van Schothorst et al. (1998). They excluded this interval, and instead predicted a nonoverlapping, more proximal 2-Mb critical interval between markers D11S1647 and D11S897. Analysis of 4 new American PGL families defined the telomeric border of the critical region as D11S1347. Among 3 unrelated American PGL families, significant haplotype sharing within this new interval was observed, strongly suggesting that they originated from a common ancestor. In sum, the authors refined the PGL1 locus to a 1.5-Mb region between D11S1986 and D11S1347. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Astrom et al. (2003) stated that a large number of PGL1 families had been reported from the Netherlands and that there may be Dutch founder mutations. </p><p>In affected members of families with hereditary paraganglioma, Baysal et al. (2000) identified mutations in the SDHD gene (602690.0001-602690.0005), including the Dutch founder mutation (D92Y; 602690.0004). </p><p>Gimm et al. (2000) identified several mutations in the SDHD gene in unrelated patients. One patient had a pheochromocytoma and a carotid body paraganglioma (see 602690.0010); 2 unrelated patients, 1 with an extraadrenal intraabdominal pheochromocytoma with involvement of the jugular fossa, suggesting malignancy, and 1 with an isolated intestinal lipoma, had the same mutation (602690.0011); and a 33-year-old woman had 2 extraadrenal pheochromocytomas, 1 intraabdominal and 1 intrathoracic (see 602690.0002). Finally, the authors identified a somatic SDHD mutation in a pheochromocytoma (602690.0003). </p><p>In 7 families with familial paragangliomas, Milunsky et al. (2001) identified mutations in the SDHD gene (602690.0006-602690.0009). Three unrelated families had the same mutation (602690.0003), suggesting a founder effect. A restriction enzyme assay was developed for initial screening for the common mutation. </p><p>Cascon et al. (2002) performed mutation analysis of the SDHD gene in 25 consecutive, unrelated patients with pheochromocytoma and/or paraganglioma, with or without family history. There were 18 patients with pheochromocytoma, 4 with paraganglioma alone, and 3 with both, who had tested negative for germline mutations in the VHL (608537) and RET (164761) genes. Two novel truncating mutations were detected, a 4-bp deletion (602690.0022) in an apparently sporadic case of paraganglioma and pheochromocytoma, and a nonsense mutation (602690.0023) in a patient with paraganglioma with a family history of pheochromocytoma. </p><p>In a patient of German descent with sporadic bilateral carotid body paragangliomata, Leube et al. (2004) identified a frameshift mutation in the SDHD gene (602690.0020). </p><p>Mhatre et al. (2004) performed a mutation screen of the SDHB, SDHC, and SDHD genes in blood and tumor samples of 14 sporadic and 3 familial cases of head and neck paragangliomas. Germline mutations in SDHB and SDHD were identified in 2 of the 3 affected individuals with familial PGL, whereas no germline or somatic mutations were identified in the 14 sporadic cases. The presence of mutations within SDHB and SDHD in 2 of the 3 samples of familial PGL and absence of mutations in sporadic cases is consistent with a significant contribution of these genes to familial but not sporadic PGL. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Heterogeneity</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p><strong><em>Carotid Body Paragangliomas with Sensorineural Hearing Loss</em></strong></p><p>
Badenhop et al. (2001) studied 4 families with familial carotid body paragangliomas, 2 of which exhibited coinheritance of paragangliomas and sensorineural hearing loss or tinnitus. Sequence analysis identified mutations in exon 1 and exon 3 of the SDHD gene, including a novel 2-bp deletion in exon 3 creating a premature stop codon at position 67 (602690.0013); a novel 3-bp deletion in exon 3 resulting in the loss of tyr93 (602690.0014); a missense mutation in exon 3 resulting in a pro81-to-leu substitution (602690.0003); and a novel G-to-C substitution in exon 1 resulting in a met1-to-val substitution (602690.0015). The PGL1 region contains another gene, DPP2/TIMM8B (606659), a homolog of the X-linked TIMM8A gene (300356), mutations in which cause dystonia and deafness seen in Mohr-Tranebjaerg syndrome (304700). The authors found no base changes in the TIMM8B gene; thus, it would seem that the association of paraganglioma with sensorineural hearing loss cannot be explained by the proximity of the TIMM8B and SDHD genes. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In a review of several studies, Baysal et al. (2002) found that 83 cases of paragangliomas-1 in 'unrelated' families and patients were attributable to 3 founder populations in the Netherlands, in stark contrast to 25 distinct SDHD mutations reported among 43 independent familial and nonfamilial cases in other parts of the world. Astrom et al. (2003) interpreted this finding as suggesting that low altitudes in the Netherlands reduce penetrance and relax the natural selection on SDHD mutations. They studied the influence of altitude on the phenotype of PGL1 in 58 patients from 23 families. Patients who were diagnosed with single tumors at their first clinical evaluation lived at lower average altitudes and were exposed to lower altitude-years than those with multiple tumors (p less than 0.012). Nonsense/splicing mutation carriers developed symptoms 8.5 years earlier than missense mutation carriers (p less than 0.012). Pheochromocytomas developed in 6 patients, 5 of whom had nonsense mutations. Patients with pheochromocytomas also lived at higher average altitudes and were exposed to higher altitude-years than those without them. Astrom et al. (2003) concluded that collectively, these data suggested that higher altitudes and nonsense/splicing mutations are associated with increased severity in PGL1 and supported the hypothesis that SDHD mutations impair oxygen sensing. </p><p>In a population-based genetic study of 334 unrelated patients with adrenal or extraadrenal pheochromocytomas and 83 patients with head and neck paragangliomas, Neumann et al. (2004) found that 12% of patients had a mutation in either the SDHB or SDHD gene, with equal distribution between the 2 genes (25 and 24 patients with mutations in the SDHB and SDHD genes, respectively). Mean age at diagnosis was similar between the 2 groups (approximately 30 years). Inheritance of SDHD mutations was consistent with maternal imprinting. Examination of relatives yielded a total of 32 and 34 manifesting carriers of SDHB and SDHD mutations, respectively. Multiple tumors occurred in 28% of SDHB carriers and 74% of SDHD carriers; adrenal pheochromocytomas occurred in 28% of SDHB carriers and 53% of SDHD carriers, whereas extraadrenal pheochromocytomas were identified in 48% of SDHB carriers and 21% of SDHD carriers; head and neck paragangliomas occurred in 31% of SDHB carriers and 79% of SDHD carriers; and malignancy occurred in 34% of SDHB carriers but no SDHD carriers. Two related SDHB carriers had renal cell carcinoma, and 1 SDHB and 1 SDHD carrier each had papillary thyroid carcinoma. Age-related penetrance for carriers of the 2 mutations was similar: SDHB and SDHD carriers showed 77% and 86% penetrance by age 50 years, respectively. </p><p>Benn et al. (2006) determined genotype/phenotype associations in a cohort of patients with pheochromocytoma/paraganglioma syndromes and SDHB or SDHD mutations. SDHB mutation carriers were more likely than SDHD mutation carriers to develop extraadrenal pheochromocytomas and malignant disease, whereas SDHD mutation carriers had a greater propensity to develop head and neck paragangliomas and multiple tumors. For the index cases, there was no difference between 43 SDHB and 19 SDHD mutation carriers in the time to first diagnosis (34 vs 28 years, respectively; p = 0.3). However, when all 112 mutation carriers were included, the estimated age-related penetrance was different for SDHB versus SDHD mutation carriers (p = 0.008). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Hensen et al. (2012) determined the mutation frequency of 4 succinate dehydrogenase genes in a total of 1,045 patients from 340 Dutch families with paraganglioma and pheochromocytoma. Mutations were identified in 690 cases from 239 families. The most commonly affected gene in mutation carriers was SDHD (87.1%), followed by SDHAF2 (6.7%), SDHB (5.9%), and SDHC (0.3%). Almost 70% of all carriers had the founder mutation D92Y (602690.0004) in SDHD; approximately 89% of all SDH mutation carriers had 1 of 6 Dutch founder mutations. The dominance of SDHD mutations was unique to the Netherlands, contrasting with the higher prevalence of SDHB mutations found elsewhere. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Strauchen (2002) noted that the interchangeable use of 'paraganglioma' and 'glomus tumor' was a 'common point of confusion.' He emphasized that the glomus tumor is a tumor of modified perivascular smooth muscle, which frequently presents as a painful subungual mass, and is unrelated to tumors of the adrenal and extraadrenal paraganglia. Jugulotympanic paraganglioma is often referred to as a 'glomus jugulare tumor.' This tumor arises from minute, anatomically dispersed paraganglia located at the base of the skull and temporal bone and is closely related to similar tumors of the carotid body and other extraadrenal paraganglia. It is unrelated to the much more common glomus tumor of skin and soft tissue. See 138000 for an inherited form of smooth muscle tissue glomus tumors. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The glomus jugulare was first discovered by Stacy R. Guild at Johns Hopkins in 1941 (Guild (1941, 1953)). </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Chase (1933); Desai and Patel (1961); Gruber and Metson (1980);
Herrmann (1977); Heutink et al. (1994); Katz (1964); Knudson (1986);
Lee et al. (1977); Masuoka et al. (2001)
</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">
Astrom, K., Cohen, J. E., Willett-Brozick, J. E., Aston, C. E., Baysal, B. E.
<strong>Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.</strong>
Hum. Genet. 113: 228-237, 2003.
[PubMed: 12811540]
[Full Text: https://doi.org/10.1007/s00439-003-0969-6]
</p>
</li>
<li>
<p class="mim-text-font">
Badenhop, R. F., Cherian, S., Lord, R. S. A., Baysal, B. E., Taschner, P. E. M., Schofield, P. R.
<strong>Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.</strong>
Genes Chromosomes Cancer 31: 255-263, 2001.
[PubMed: 11391796]
[Full Text: https://doi.org/10.1002/gcc.1142]
</p>
</li>
<li>
<p class="mim-text-font">
Bartels, J.
<strong>De tumoren van het glomus jugulare.</strong>
Thesis: Groningen (pub.) 1949.
</p>
</li>
<li>
<p class="mim-text-font">
Baysal, B. E., Farr, J. E., Rubinstein, W. S., Galus, R. A., Johnson, K. A., Aston, C. E., Myers, E. N., Johnson, J. T., Carrau, R., Kirkpatrick, S. J., Myssiorek, D., Singh, D., Saha, S., Gollin, S. M., Evans, G. A., James, M. R., Richard, C. W., III.
<strong>Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23.</strong>
Am. J. Hum. Genet. 60: 121-132, 1997.
[PubMed: 8981955]
</p>
</li>
<li>
<p class="mim-text-font">
Baysal, B. E., Ferrell, R. E., Willett-Brozick, J. E., Lawrence, E. C., Myssiorek, D., Bosch, A., van der May, A., Taschner, P. E. M., Rubinstein, W. S., Myers, E. N., Richard, C. W., III, Cornelisse, C. J., Devilee, P., Devlin, B.
<strong>Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.</strong>
Science 287: 848-851, 2000.
[PubMed: 10657297]
[Full Text: https://doi.org/10.1126/science.287.5454.848]
</p>
</li>
<li>
<p class="mim-text-font">
Baysal, B. E., van Schothorst, E. M., Farr, J. E., Grashof, P., Myssiorek, D., Rubinstein, W. S., Taschner, P., Cornelisse, C. J., Devlin, B., Devilee, P., Richard, C. W., III.
<strong>Repositioning the hereditary paraganglioma critical region on chromosome band 11q23.</strong>
Hum. Genet. 104: 219-225, 1999.
[PubMed: 10323245]
[Full Text: https://doi.org/10.1007/s004390050939]
</p>
</li>
<li>
<p class="mim-text-font">
Baysal, B. E., Willett-Brozick, J. E., Lawrence, E. C., Drovdlic, C. M., Savul, S. A., McLeod, D. R., Yee, H. A., Brackmann, D. E., Slattery, W. H., III, Myers, E. N., Ferrell, R. E., Rubinstein, W. S.
<strong>Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.</strong>
J. Med. Genet. 39: 178-183, 2002.
[PubMed: 11897817]
[Full Text: https://doi.org/10.1136/jmg.39.3.178]
</p>
</li>
<li>
<p class="mim-text-font">
Baysal, B. E.
<strong>Hereditary paraganglioma targets diverse paraganglia.</strong>
J. Med. Genet. 39: 617-622, 2002.
[PubMed: 12205103]
[Full Text: https://doi.org/10.1136/jmg.39.9.617]
</p>
</li>
<li>
<p class="mim-text-font">
Baysal, B. E.
<strong>Clinical and molecular progress in hereditary paraganglioma.</strong>
J. Med. Genet. 45: 689-694, 2008.
[PubMed: 18978332]
[Full Text: https://doi.org/10.1136/jmg.2008.058560]
</p>
</li>
<li>
<p class="mim-text-font">
Benn, D. E., Gimenez-Roqueplo, A.-P., Reilly, J. R., Bertherat, J., Burgess, J., Byth, K., Croxson, M., Dahia, P. L. M., Elston, M., Gimm, O., Henley, D., Herman, P., and 9 others.
<strong>Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.</strong>
J. Clin. Endocr. Metab. 91: 827-836, 2006.
[PubMed: 16317055]
[Full Text: https://doi.org/10.1210/jc.2005-1862]
</p>
</li>
<li>
<p class="mim-text-font">
Cascon, A., Calsina, B., Monteagudo, M., Mellid, S., Diaz-Talavera, A., Curras-Freixes, M., Robledo, M.
<strong>Genetic bases of pheochromocytoma and paraganglioma.</strong>
J. Molec. Endocr. 70: e220167, 2023.
[PubMed: 36520714]
[Full Text: https://doi.org/10.1530/JME-22-0167]
</p>
</li>
<li>
<p class="mim-text-font">
Cascon, A., Ruiz-Llorente, S., Cebrian, A., Telleria, D., Rivero, J. C., Diez, J. J., Lopez-Ibarra, P., Jaunsolo, M. A., Benitez, J., Robledo, M.
<strong>Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.</strong>
Europ. J. Hum. Genet. 10: 457-461, 2002.
[PubMed: 12111639]
[Full Text: https://doi.org/10.1038/sj.ejhg.5200829]
</p>
</li>
<li>
<p class="mim-text-font">
Chase, W. H.
<strong>Familial and bilateral tumours of the carotid body.</strong>
J. Path. Bact. 36: 1-12, 1933.
</p>
</li>
<li>
<p class="mim-text-font">
Chedid, A., Jao, W.
<strong>Hereditary tumors of the carotid bodies and chronic obstructive pulmonary disease.</strong>
Cancer 33: 1635-1641, 1974.
[PubMed: 4366403]
[Full Text: https://doi.org/10.1002/1097-0142(197406)33:6&lt;1635::aid-cncr2820330625&gt;3.0.co;2-j]
</p>
</li>
<li>
<p class="mim-text-font">
DeAngelis, L. M., Kelleher, M. B., Post, K. D., Fetell, M. R.
<strong>Multiple paragangliomas in neurofibromatosis: a new neuroendocrine neoplasia.</strong>
Neurology 37: 129-133, 1987.
[PubMed: 2879257]
[Full Text: https://doi.org/10.1212/wnl.37.1.129]
</p>
</li>
<li>
<p class="mim-text-font">
Desai, M. G., Patel, C. C.
<strong>Heredo-familial carotid body tumours.</strong>
Clin. Radiol. 12: 214-217, 1961.
[PubMed: 13722111]
[Full Text: https://doi.org/10.1016/s0009-9260(61)80012-3]
</p>
</li>
<li>
<p class="mim-text-font">
Devilee, P., Heutink, P., van der Mey, A. G. L., Oostra, B. A., van Ommen, G. J.-B., Cornelisse, C. J.
<strong>Mapping the genomically imprinted gene responsible for hereditary paragangliomas on 11q. (Abstract)</strong>
Am. J. Hum. Genet. 51 (suppl.): A61 only, 1992.
</p>
</li>
<li>
<p class="mim-text-font">
Devilee, P., van Schothorst, E. M., Bardoel, A. F. J., Bonsing, B., Kuipers-Dijkshoorn, N., James, M. R., Fleuren, G., van der Mey, A. G. L., Cornelisse, C. J.
<strong>Allelotype of head and neck paragangliomas: allelic imbalance is confined to the long arm of chromosome 11, the site of the predisposing locus PGL.</strong>
Genes Chromosomes Cancer 11: 71-78, 1994.
[PubMed: 7529551]
[Full Text: https://doi.org/10.1002/gcc.2870110202]
</p>
</li>
<li>
<p class="mim-text-font">
Gimm, O., Armanios, M., Dziema, H., Neumann, H. P. H., Eng, C.
<strong>Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.</strong>
Cancer Res. 60: 6822-6825, 2000.
[PubMed: 11156372]
</p>
</li>
<li>
<p class="mim-text-font">
Gruber, H., Metson, R.
<strong>Carotid body paraganglioma regression with relief of hypoxemia.</strong>
Ann. Intern. Med. 92: 800-802, 1980.
[PubMed: 7387023]
[Full Text: https://doi.org/10.7326/0003-4819-92-6-800]
</p>
</li>
<li>
<p class="mim-text-font">
Grufferman, S., Gillman, M. W., Pasternak, L. R., Peterson, C. L., Young, W. G., Jr.
<strong>Familial carotid body tumors: case report and epidemiologic review.</strong>
Cancer 46: 2116-2122, 1980.
[PubMed: 7000334]
[Full Text: https://doi.org/10.1002/1097-0142(19801101)46:9&lt;2116::aid-cncr2820460934&gt;3.0.co;2-s]
</p>
</li>
<li>
<p class="mim-text-font">
Guild, S. R.
<strong>A hitherto unrecognized structure, the glomus jugularis in man. (Abstract)</strong>
Anat. Rec. 79 (suppl. 2): 28 only, 1941.
</p>
</li>
<li>
<p class="mim-text-font">
Guild, S. R.
<strong>The glomus jugulare, a nonchromaffin paraganglion, in man.</strong>
Ann. Otol. Rhinol. Laryng. 62: 1045-1071, 1953.
[PubMed: 13114831]
[Full Text: https://doi.org/10.1177/000348945306200411]
</p>
</li>
<li>
<p class="mim-text-font">
Heesterman, B. L., Bayley, J. P., Tops, C. M., Hes, F. J., van Brussel, B. T. J., Corssmit, E. P. M., Hamming, J. F., van der Mey, A. G. L., Jansen, J. C.
<strong>High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations.</strong>
Europ. J. Hum. Genet. 21: 469-470, 2013.
[PubMed: 22948026]
[Full Text: https://doi.org/10.1038/ejhg.2012.203]
</p>
</li>
<li>
<p class="mim-text-font">
Hensen, E. F., Jansen, J. C., Siemers, M. D., Ossterwijk, J. C., Vriends, A. H. J. T., Corssmit, E. P. M., Bayley, J.-P., van der Mey, A. G. L., Cornelisse, C. J., Devilee, P.
<strong>The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family.</strong>
Europ. J. Hum. Genet. 18: 62-66, 2010.
[PubMed: 19584903]
[Full Text: https://doi.org/10.1038/ejhg.2009.112]
</p>
</li>
<li>
<p class="mim-text-font">
Hensen, E. F., van Duinen, N., Jansen, J. C., Corssmit, E. P. M., Tops, C. M. J., Romijn, J. A., Vriends, A. H. J. T., van der Mey, A. G. L., Cornelisse, C. J., Devilee, P., Bayley, J. P.
<strong>High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.</strong>
Clin. Genet. 81: 284-288, 2012.
[PubMed: 21348866]
[Full Text: https://doi.org/10.1111/j.1399-0004.2011.01653.x]
</p>
</li>
<li>
<p class="mim-text-font">
Herrmann, J.
<strong>Delayed mutation model: carotid body tumors and retinoblastoma. In: Mulvihill, J. J.; Miller, R. W.; Fraumeni, J. F., Jr.: Genetics of Human Cancer.</strong>
New York: Raven Press (pub.) 1977. Pp. 417-438.
</p>
</li>
<li>
<p class="mim-text-font">
Heutink, P., van der Mey, A. G. L., Sandkuijl, L. A., van Gils, A. P. G., Bardoel, A., Breedveld, G. J., van Vliet, M., van Ommen, G.-J. B., Cornelisse, C. J., Oostra, B. A., Weber, J. L., Devilee, P.
<strong>A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter.</strong>
Hum. Molec. Genet. 1: 7-10, 1992.
[PubMed: 1301144]
[Full Text: https://doi.org/10.1093/hmg/1.1.7]
</p>
</li>
<li>
<p class="mim-text-font">
Heutink, P., van Schothorst, E. M., van der Mey, A. G. L., Bardoel, A., Breedveld, G., Pertijs, J., Sandkuijl, L. A., van Ommen, G.-J. B., Cornelisse, C. J., Oostra, B. A., Devilee, P.
<strong>Further localization of the gene for hereditary paragangliomas and evidence for linkage in unrelated families.</strong>
Europ. J. Hum. Genet. 2: 148-158, 1994.
[PubMed: 7834274]
[Full Text: https://doi.org/10.1159/000472358]
</p>
</li>
<li>
<p class="mim-text-font">
Karasov, R. S., Sheps, S. G., Carney, J. A., van Heerden, J. A., DeQuattro, V.
<strong>Paragangliomatosis with numerous catecholamine-producing tumors.</strong>
Mayo Clin. Proc. 57: 590-595, 1982.
[PubMed: 6213823]
</p>
</li>
<li>
<p class="mim-text-font">
Katz, A. D.
<strong>Carotid body tumors in a large family group.</strong>
Am. J. Surg. 108: 570-573, 1964.
[PubMed: 14211450]
[Full Text: https://doi.org/10.1016/0002-9610(64)90157-6]
</p>
</li>
<li>
<p class="mim-text-font">
Khafagi, F., Egerton-Vernon, J., van Doorn, T., Foster, W., McPhee, I. B., Allison, R. W. G.
<strong>Localization and treatment of familial malignant nonfunctional paraganglioma with iodine-131 MIBG: report of two cases.</strong>
J. Nucl. Med. 28: 528-531, 1987.
[PubMed: 2437268]
</p>
</li>
<li>
<p class="mim-text-font">
Knudson, A. G., Jr.
<strong>Genetics of human cancer.</strong>
Annu. Rev. Genet. 20: 231-251, 1986.
[PubMed: 2880556]
[Full Text: https://doi.org/10.1146/annurev.ge.20.120186.001311]
</p>
</li>
<li>
<p class="mim-text-font">
Kroll, A. J., Alexander, B., Cochios, F., Pechet, L.
<strong>Hereditary deficiencies of clotting factors VII and X associated with carotid-body tumors.</strong>
New Eng. J. Med. 270: 6-13, 1964.
[PubMed: 14062129]
[Full Text: https://doi.org/10.1056/NEJM196401022700102]
</p>
</li>
<li>
<p class="mim-text-font">
Ladenheim, J. C., Sachs, E., Jr.
<strong>Familial tumors of the &#x27;glomus jugulare&#x27;: report of 2 cases, with a note on the vascular origin of the glomera.</strong>
Neurology 11: 303-309, 1961.
[PubMed: 13758152]
[Full Text: https://doi.org/10.1212/wnl.11.4.303]
</p>
</li>
<li>
<p class="mim-text-font">
Lee, S. P., Nicholson, G. I., Hitchcock, G. C.
<strong>Familial abdominal chemodectomas with associated cutaneous angiolipomas.</strong>
Pathology 9: 173-177, 1977.
[PubMed: 195258]
[Full Text: https://doi.org/10.3109/00313027709085255]
</p>
</li>
<li>
<p class="mim-text-font">
Leube, B., Huber, R., Goecke, T. O., Sandmann, W., Royer-Pokora, B.
<strong>SDHD mutation analysis in seven German patients with sporadic carotid body paraganglioma: one novel mutation, no Dutch founder mutation and further evidence that G12S is a polymorphism. (Letter)</strong>
Clin. Genet. 65: 61-63, 2004.
[PubMed: 15032977]
[Full Text: https://doi.org/10.1111/j..2004.00174.x]
</p>
</li>
<li>
<p class="mim-text-font">
Mariman, E. C. M., van Beersum, S. E. C., Cremers, C. W. R. J., Struycken, P. M., Ropers, H. H.
<strong>Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity.</strong>
Hum. Genet. 95: 56-62, 1995.
[PubMed: 7814027]
[Full Text: https://doi.org/10.1007/BF00225075]
</p>
</li>
<li>
<p class="mim-text-font">
Masuoka, J., Brandner, S., Paulus, W., Soffer, D., Vital, A., Chimelli, L., Jouvet, A., Yonekawa, Y., Kleihues, P., Ohgaki, H.
<strong>Germline SDHD mutation in paraganglioma of the spinal cord.</strong>
Oncogene 20: 5084-5086, 2001.
[PubMed: 11526495]
[Full Text: https://doi.org/10.1038/sj.onc.1204579]
</p>
</li>
<li>
<p class="mim-text-font">
Mhatre, A. N., Li, Y., Feng, L., Gasperin, A., Lalwani, A. K.
<strong>SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas.</strong>
Clin. Genet. 66: 461-466, 2004.
[PubMed: 15479192]
[Full Text: https://doi.org/10.1111/j.1399-0004.2004.00328.x]
</p>
</li>
<li>
<p class="mim-text-font">
Milunsky, J., DeStefano, A. L., Huang, X.-L., Baldwin, C. T., Michels, V. V., Jako, G., Milunsky, A.
<strong>Familial paragangliomas: linkage to chromosome 11q23 and clinical implications.</strong>
Am. J. Med. Genet. 72: 66-70, 1997.
[PubMed: 9295078]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19971003)72:1&lt;66::aid-ajmg14&gt;3.0.co;2-s]
</p>
</li>
<li>
<p class="mim-text-font">
Milunsky, J. M., Maher, T. A., Michels, V. V., Milunsky, A.
<strong>Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.</strong>
Am. J. Med. Genet. 100: 311-314, 2001.
[PubMed: 11343322]
[Full Text: https://doi.org/10.1002/ajmg.1270]
</p>
</li>
<li>
<p class="mim-text-font">
Neumann, H. P. H., Pawlu, C., Peczkowska, M., Bausch, B., McWhinney, S. R., Muresan, M., Buchta, M., Franke, G., Klisch, J., Bley, T. A., Hoegerle, S., Boedeker, C. C., Opocher, G., Schipper, J., Januszewicz, A., Eng. C.
<strong>Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.</strong>
JAMA 292: 943-951, 2004. Note: Erratum: JAMA 292: 1686 only, 2004.
[PubMed: 15328326]
[Full Text: https://doi.org/10.1001/jama.292.8.943]
</p>
</li>
<li>
<p class="mim-text-font">
Nissenblatt, M. J.
<strong>Cyanotic heart disease: &#x27;low altitude&#x27; risk for carotid body tumor?</strong>
Johns Hopkins Med. J. 142: 18-22, 1978.
[PubMed: 625092]
</p>
</li>
<li>
<p class="mim-text-font">
Oosterwijk, J. C., Jansen, J. C., van Schothorst, E. M., Oosterhof, A. W., Devilee, P., Bakker, E., Zoeteweij, M. W., van der Mey, A. G. L.
<strong>First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas).</strong>
J. Med. Genet. 33: 379-383, 1996.
[PubMed: 8733047]
[Full Text: https://doi.org/10.1136/jmg.33.5.379]
</p>
</li>
<li>
<p class="mim-text-font">
Parkin, J. L.
<strong>Familial multiple glomus tumors and pheochromocytomas.</strong>
Ann. Otol. Rhinol. Laryng. 90: 60-63, 1981.
[PubMed: 6258467]
[Full Text: https://doi.org/10.1177/000348948109000115]
</p>
</li>
<li>
<p class="mim-text-font">
Parry, D. M., Li, F. P., Strong, L. C., Carney, J. A., Schottenfeld, D., Reimer, R. R., Grufferman, S.
<strong>Carotid body tumors in humans: genetics and epidemiology.</strong>
J. Nat. Cancer Inst. 68: 573-578, 1982.
[PubMed: 6951072]
</p>
</li>
<li>
<p class="mim-text-font">
Pigny, P., Vincent, A., Bauters, C. C., Bertrand, M., de Montpreville, V. T., Crepin, M., Porchet, N., Caron, P.
<strong>Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation.</strong>
J. Clin. Endocr. Metab. 93: 1609-1615, 2008.
[PubMed: 18211978]
[Full Text: https://doi.org/10.1210/jc.2007-1989]
</p>
</li>
<li>
<p class="mim-text-font">
Pratt, L. W.
<strong>Familial carotid body tumors.</strong>
Arch. Otolaryng. 97: 334-336, 1973.
[PubMed: 4699542]
[Full Text: https://doi.org/10.1001/archotol.1973.00780010344011]
</p>
</li>
<li>
<p class="mim-text-font">
Prontera, P., Ferrando, B., Giuliani, V., Falcinelli, F., Mencarelli, A., Rogaia, D., Pasini, B, Donti, E.
<strong>A novel mutation in the SDHD gene responsible for familial paraganglioma. Medical and psychological implications.</strong>
Genet. Counsel. 19: 413-418, 2008.
[PubMed: 19239085]
</p>
</li>
<li>
<p class="mim-text-font">
Resler, D. R., Snow, J. B., Williams, G. R.
<strong>Multiplicity and familial incidence of carotid body and glomus jugulare tumors.</strong>
Ann. Otol. Rhinol. Laryng. 75: 114-122, 1966.
[PubMed: 4286420]
[Full Text: https://doi.org/10.1177/000348946607500109]
</p>
</li>
<li>
<p class="mim-text-font">
Rosen, S.
<strong>Glomus jugulare tumor of the middle ear with normal drum, improved biopsy technique.</strong>
Ann. Otol. Rhinol. Laryng. 61: 448-451, 1952.
[PubMed: 14944141]
[Full Text: https://doi.org/10.1177/000348945206100214]
</p>
</li>
<li>
<p class="mim-text-font">
Strauchen, J. A.
<strong>Germ-line mutations in nonsyndromic pheochromocytoma. (Letter)</strong>
New Eng. J. Med. 347: 854-855, 2002.
[PubMed: 12226162]
[Full Text: https://doi.org/10.1056/NEJM200209123471117]
</p>
</li>
<li>
<p class="mim-text-font">
van Baars, F., Cremers, C., van den Broek, P., Geerts, S., Veldman, J.
<strong>Genetic aspects of nonchromaffin paraganglioma.</strong>
Hum. Genet. 60: 305-309, 1982.
[PubMed: 6286462]
[Full Text: https://doi.org/10.1007/BF00569208]
</p>
</li>
<li>
<p class="mim-text-font">
van der Mey, A. G., Maaswinkel-Mooy, P. D., Cornelisse, C. J., Schmidt, P. H., van de Kamp, J. J.
<strong>Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory.</strong>
Lancet 334: 1291-1294, 1989. Note: Originally Volume II.
[PubMed: 2574254]
[Full Text: https://doi.org/10.1016/s0140-6736(89)91908-9]
</p>
</li>
<li>
<p class="mim-text-font">
van Schothorst, E. M., Beekman, M., Torremans, P., Kuipers-Dijkshoorn, N. J., Wessels, H. W., Bardoel, A. F. J., van der Mey, A. G. L., van der Vijver, M. J., van Ommen, G.-J. B., Devilee, P., Cornelisse, C. J.
<strong>Paragangliomas of the head and neck region show complete loss of heterozygosity at 11q22-q23 in chief cells and the flow-sorted DNA aneuploid fraction.</strong>
Hum. Path. 29: 1045-1049, 1998.
[PubMed: 9781639]
[Full Text: https://doi.org/10.1016/s0046-8177(98)90411-7]
</p>
</li>
<li>
<p class="mim-text-font">
van Schothorst, E. M., Jansen, J. C., Grooters, E., Prins, D. E. M., Wiersinga, J. J., van der Mey, A. G. L., van Ommen, G.-J. B., Devilee, P., Cornelisse, C. J.
<strong>Founder effect at PGL1 in hereditary head and neck paraganglioma families from The Netherlands.</strong>
Am. J. Hum. Genet. 63: 468-473, 1998.
[PubMed: 9683583]
[Full Text: https://doi.org/10.1086/301951]
</p>
</li>
<li>
<p class="mim-text-font">
Wilson, H.
<strong>Carotid body tumors: familial and bilateral.</strong>
Ann. Surg. 171: 843-848, 1970.
[PubMed: 5420930]
[Full Text: https://doi.org/10.1097/00000658-197006010-00004]
</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">
Cassandra L. Kniffin - updated : 5/8/2013<br>Cassandra L. Kniffin - updated : 4/11/2012<br>Cassandra L. Kniffin - updated : 5/14/2010<br>Cassandra L. Kniffin - updated : 3/9/2010<br>Ada Hamosh - updated : 9/15/2009<br>John A. Phillips, III - updated : 2/26/2009<br>Cassandra L. Kniffin - updated : 1/5/2009<br>John A. Phillips, III - updated : 4/9/2007<br>Victor A. McKusick - updated : 4/28/2005<br>Cassandra L. Kniffin - reorganized : 1/31/2005<br>Cassandra L. Kniffin - updated : 1/19/2005<br>Victor A. McKusick - updated : 8/13/2003<br>Michael B. Petersen - updated : 6/23/2003<br>Victor A. McKusick - updated : 9/30/2002<br>Victor A. McKusick - updated : 2/6/2002<br>Victor A. McKusick - updated : 12/10/2001<br>Sonja A. Rasmussen - updated : 6/13/2001<br>Ada Hamosh - updated : 2/2/2000<br>Victor A. McKusick - updated : 1/10/2000<br>Victor A. McKusick - updated : 4/26/1999<br>Victor A. McKusick - updated : 1/20/1999<br>Victor A. McKusick - updated : 7/16/1998<br>Victor A. McKusick - updated : 10/3/1997<br>Moyra Smith - updated : 1/27/1997
</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">
carol : 10/17/2023<br>ckniffin : 10/11/2023<br>carol : 04/21/2023<br>alopez : 06/24/2019<br>alopez : 06/21/2019<br>ckniffin : 06/14/2019<br>carol : 08/23/2016<br>carol : 05/23/2016<br>carol : 5/20/2013<br>ckniffin : 5/8/2013<br>alopez : 4/13/2012<br>alopez : 4/13/2012<br>terry : 4/11/2012<br>ckniffin : 4/11/2012<br>wwang : 8/16/2011<br>ckniffin : 8/15/2011<br>wwang : 5/24/2010<br>ckniffin : 5/14/2010<br>wwang : 4/7/2010<br>ckniffin : 3/9/2010<br>alopez : 9/17/2009<br>terry : 9/15/2009<br>alopez : 2/26/2009<br>terry : 2/6/2009<br>wwang : 2/5/2009<br>ckniffin : 1/5/2009<br>carol : 4/9/2007<br>carol : 5/1/2006<br>tkritzer : 5/12/2005<br>terry : 4/28/2005<br>carol : 1/31/2005<br>ckniffin : 1/19/2005<br>ckniffin : 3/23/2004<br>carol : 3/9/2004<br>tkritzer : 2/27/2004<br>cwells : 11/6/2003<br>tkritzer : 8/18/2003<br>terry : 8/13/2003<br>cwells : 6/23/2003<br>mgross : 10/1/2002<br>carol : 9/30/2002<br>ckniffin : 5/15/2002<br>alopez : 2/6/2002<br>carol : 12/10/2001<br>mcapotos : 6/13/2001<br>mcapotos : 6/13/2001<br>alopez : 10/31/2000<br>alopez : 2/3/2000<br>terry : 2/2/2000<br>mgross : 1/10/2000<br>carol : 11/8/1999<br>mgross : 5/12/1999<br>terry : 5/5/1999<br>mgross : 4/28/1999<br>terry : 4/26/1999<br>carol : 1/29/1999<br>terry : 1/20/1999<br>carol : 12/15/1998<br>terry : 8/5/1998<br>terry : 7/16/1998<br>jenny : 10/7/1997<br>terry : 10/3/1997<br>mark : 2/12/1997<br>mark : 2/12/1997<br>terry : 2/5/1997<br>terry : 1/27/1997<br>mark : 1/24/1997<br>mark : 7/9/1996<br>terry : 6/28/1996<br>terry : 3/3/1995<br>carol : 2/6/1995<br>mimadm : 1/14/1995<br>pfoster : 4/27/1994<br>warfield : 4/12/1994<br>carol : 7/12/1993
</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>&reg;</sup> and Online Mendelian Inheritance in Man<sup>&reg;</sup> are registered trademarks of the Johns Hopkins University.
<br />
Copyright<sup>&reg;</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>&reg;</sup> and Online Mendelian Inheritance in Man<sup>&reg;</sup> are registered trademarks of the Johns Hopkins University.
<br />
Copyright<sup>&reg;</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">&times;</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>
Reference in a new issue View git blame Copy permalink