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Entry
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- #171300 - PHEOCHROMOCYTOMA
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- OMIM
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<span class="h4">#171300</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/171300"><strong>Clinical Synopsis</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=PHEOCHROMOCYTOMA" 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>
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<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>
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<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>
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<div><a href="https://www.diseaseinfosearch.org/x/5718" 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>
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<div><a href="https://medlineplus.gov/genetics/condition/nonsyndromic-paraganglioma" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=171300[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>
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<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>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0050771" 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>
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<div><a href="http://www.informatics.jax.org/disease/171300" 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>
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<div><a href="https://omia.org/OMIA001268/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0050771" 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>
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<span>
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<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.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 29072<br />
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<strong>DO:</strong> 0050771<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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171300
|
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</span>
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</span>
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</div>
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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|
|
PHEOCHROMOCYTOMA
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</span>
|
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</h3>
|
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<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">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
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Location
|
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</th>
|
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<th>
|
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Phenotype
|
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</th>
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<th>
|
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Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/2/474?start=-3&limit=10&highlight=474">
|
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2q11.2
|
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</a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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{Pheochromocytoma, susceptibility to}
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/171300"> 171300 </a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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TMEM127
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/613403"> 613403 </a>
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</span>
|
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</td>
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/3/52?start=-3&limit=10&highlight=52">
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3p25.3
|
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</a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Pheochromocytoma
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/171300"> 171300 </a>
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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VHL
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/608537"> 608537 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/10/158?start=-3&limit=10&highlight=158">
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10q11.21
|
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Pheochromocytoma
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/171300"> 171300 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
RET
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/164761"> 164761 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/14/319?start=-3&limit=10&highlight=319">
|
|
14q23.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Pheochromocytoma, susceptibility to}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/171300"> 171300 </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">
|
|
MAX
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/154950"> 154950 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
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|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/171300" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/171300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/171300" 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> Oncology </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Adrenal medullary tumor<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Cardiac </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Tachycardia <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">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3827868&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3827868</a>, <a href="https://bioportal.bioontology.org/search?q=C0039231&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039231</a> 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> <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 /> - Congestive heart failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42343007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42343007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I50.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/428.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018802&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018802</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Skin </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Sweating <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/364538006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">364538006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/415690000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">415690000</a>, <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/161857006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">161857006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038990</a> 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> <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 /> - Cafe-au-lait spots <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/201281002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">201281002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L81.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L81.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221263&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221263</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000957</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000957</a>]</span><br /> - Hemangiomata <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253053003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253053003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400210000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400210000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D18.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D18.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D18.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D18.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/228.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">228.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/228.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">228.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018916&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018916</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001028</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Endocrine </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Episodic hypertension <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23130000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23130000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221154&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221154</a>, <a href="https://bioportal.bioontology.org/search?q=C1857175&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857175</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000875" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000875</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000875" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000875</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Eyes </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypertensive retinopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6962006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6962006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.03</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/362.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">362.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152132&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152132</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001095" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001095</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001095" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001095</a>]</span><br /> - Retinal angiomatosis<br /> - Congenital cataracts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/79410001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">79410001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q12.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q12.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009691&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009691</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000519</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000519</a>]</span><br />
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<strong> Neuro </strong>
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- Cerebral hemorrhage <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/274100004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">274100004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">431</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2937358&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2937358</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001342" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001342</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001342" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001342</a>]</span><br />
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<strong> Vascular </strong>
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- Renal artery stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/282664001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">282664001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302233006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302233006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035067&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035067</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001920" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001920</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001920" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001920</a>]</span><br />
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- Familial pheochromocytoma usually bilateral<br /> - Frequent loss of heterozygosity on 1p<br />
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<strong> Lab </strong>
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<div style="margin-left: 2em;">
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- Proteinuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29738008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29738008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/231860006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">231860006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1279888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279888</a>, <a href="https://bioportal.bioontology.org/search?q=C0033687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033687</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span><br /> - Hypercalcemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166702002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166702002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/66931009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">66931009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E83.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E83.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/275.42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">275.42</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020437&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020437</a>, <a href="https://bioportal.bioontology.org/search?q=C5700155&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5700155</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003072</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003072</a>]</span><br /> - Positive Regitine test<br /> - Elevated urinary norepinephrine<br />
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<strong> Inheritance </strong>
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<div style="margin-left: 2em;">
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- 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 />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<div class="mim-changed mim-change"><p>A number sign (#) is used with this entry because susceptibility to the development of isolated pheochromocytoma can be caused by heterozygous germline mutation in several genes, including the TMEM127 gene (<a href="/entry/613403">613403</a>) on chromosome 2q11 and the MAX gene (<a href="/entry/154950">154950</a>) on chromosome 14q23.</p></div>
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<p>Pheochromocytomas most commonly occur as part of several syndromes, and mutations in the genes that cause these syndromes have been identified in patients who manifest only pheochromocytoma. These include von Hippel-Lindau syndrome (VHL; <a href="/entry/193300">193300</a>), caused by mutation in the VHL gene (<a href="/entry/608537">608537</a>), and multiple endocrine neoplasia types IIA (MEN2A; <a href="/entry/171400">171400</a>) and IIB (MEN2B; <a href="/entry/162300">162300</a>), which are caused by mutations in the RET gene (<a href="/entry/164761">164761</a>). Pheochromocytomas have less commonly been observed in neurofibromatosis I (NF1; <a href="/entry/162200">162200</a>), which is caused by mutation in the gene encoding neurofibromin-1 (<a href="/entry/613113">613113</a>).</p>
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<p>For a discussion of heterogeneity of pheochromocytoma/paraganglioma syndrome, see PPGL1 (<a href="/entry/168000">168000</a>).</p>
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<p>In addition, somatic mutation in several of the genes involved in familial disease, including NF1, VHL, RET, and MAX, have been identified in tumor tissue from patients with sporadic pheochromocytoma (<a href="#51" class="mim-tip-reference" title="Welander, J., Larsson, C., Backdahl, M., Hareni, N., Sivler, T., Brauckhoff, M., Soderkvist, P., Gimm, O. <strong>Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas.</strong> Hum. Molec. Genet. 21: 5406-5416, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23010473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23010473</a>] [<a href="https://doi.org/10.1093/hmg/dds402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23010473">Welander et al., 2012</a>; <a href="#5" class="mim-tip-reference" title="Burnichon, N., Buffet, A., Parfait, B., Letouze, E., Laurendeau, I., Loriot, C., Pasmant, E., Abermil, N., Valeyrie-Allanore, L., Bertherat, J., Amar, L., Vidaud, D., Favier, J., Gimenez-Roqueplo, A.-P. <strong>Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.</strong> Hum. Molec. Genet. 21: 5397-5405, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22962301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22962301</a>] [<a href="https://doi.org/10.1093/hmg/dds374" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22962301">Burnichon et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23010473+22962301" 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>
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<p>For associations pending confirmation, see MOLECULAR GENETICS.</p>
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<p>Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (<a href="#30" class="mim-tip-reference" title="Maher, E. R., Eng, C. <strong>The pressure rises: update on the genetics of phaeochromocytoma.</strong> Hum. Molec. Genet. 11: 2347-2354, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12351569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12351569</a>] [<a href="https://doi.org/10.1093/hmg/11.20.2347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12351569">Maher and Eng, 2002</a>; <a href="#14" class="mim-tip-reference" title="Dluhy, R. G. <strong>Pheochromocytoma--death of an axiom.</strong> New Eng. J. Med. 346: 1486-1488, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12000821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12000821</a>] [<a href="https://doi.org/10.1056/NEJM200205093461911" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12000821">Dluhy, 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12351569+12000821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Bolande, R. P. <strong>The neurocristopathies: a unifying concept of disease arising in neural crest maldevelopment.</strong> Hum. Path. 5: 409-429, 1974."None>Bolande (1974)</a> introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.</p><p><a href="#29" class="mim-tip-reference" title="Knudson, A. G., Jr., Strong, L. C. <strong>Mutation and cancer: neuroblastoma and pheochromocytoma.</strong> Am. J. Hum. Genet. 24: 514-532, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4340974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4340974</a>]" pmid="4340974">Knudson and Strong (1972)</a> applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in <a href="/entry/180200">180200</a>) and concluded that it fits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4340974" 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="#30" class="mim-tip-reference" title="Maher, E. R., Eng, C. <strong>The pressure rises: update on the genetics of phaeochromocytoma.</strong> Hum. Molec. Genet. 11: 2347-2354, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12351569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12351569</a>] [<a href="https://doi.org/10.1093/hmg/11.20.2347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12351569">Maher and Eng (2002)</a> reviewed the clinical entities and genes associated with pheochromocytoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12351569" 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>
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<p>Familial pheochromocytoma was first reported by <a href="#6" class="mim-tip-reference" title="Calkins, E., Howard, J. E. <strong>Bilateral familial pheochromocytoma with paroxysmal hypertension: successful surgical removal of tumors in 2 cases, with discussion of certain diagnostic and physiological considerations.</strong> J. Clin. Endocr. 7: 475-492, 1947.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20260947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20260947</a>] [<a href="https://doi.org/10.1210/jcem-7-7-475" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20260947">Calkins and Howard (1947)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20260947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#23" class="mim-tip-reference" title="Hadorn, W. <strong>Maligne Hypernephroide und paraganglionaere Mischgeschwuelste der Nebenniere bei drei Geschwistern.</strong> Helv. Med. Acta 30: 291-296, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5879103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5879103</a>]" pmid="5879103">Hadorn (1963)</a> reported a German family in which 3 sibs had adrenal tumors consistent with pheochromocytomas. A brother and sister suffered from tachycardia, sweating, hypertension, and albuminuria. The sister had advanced hypertensive retinopathy and the brother had congestive heart failure. At autopsy, the sister showed cerebral hemorrhage and bilateral adrenocortical tumors. A surviving sib developed similar symptoms. The Regitine test was strongly positive, the urine contained large amounts of norepinephrine, and pneumoperitoneum demonstrated an enlarged right adrenal which contained adrenal and paraganglion tissue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5879103" 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="#18" class="mim-tip-reference" title="Engelman, K., Horwitz, D., Ambrose, I. M., Sjoerdsma, A. <strong>Further evaluation of the tyramine test for pheochromocytoma.</strong> New Eng. J. Med. 278: 705-709, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5638691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5638691</a>] [<a href="https://doi.org/10.1056/NEJM196803282781304" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5638691">Engelman et al. (1968)</a> noted that familial pheochromocytoma is usually bilateral and the patients are likely to show resistance to the vasopressor effects of tyramine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5638691" 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="#47" class="mim-tip-reference" title="Swinton, N. W., Clerkin, E. P., Flint, L. D. <strong>Hypercalcemia and familial pheochromocytoma: correction after adrenalectomy.</strong> Ann. Intern. Med. 76: 455-457, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5015920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5015920</a>] [<a href="https://doi.org/10.7326/0003-4819-76-3-455" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5015920">Swinton et al. (1972)</a> reported a family in which 4 members, including a father and son, had pheochromocytomas. They pointed out that associated hypercalcemia may be due to secretion of a calcitonin-like substance; hypercalcemia could be corrected by adrenalectomy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5015920" 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="#27" class="mim-tip-reference" title="Kaufman, J. J., Franklin, S. <strong>Familial pheochromocytoma: a report of 2 cases in a kindred.</strong> J. Urol. 121: 801-804, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/458955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">458955</a>] [<a href="https://doi.org/10.1016/s0022-5347(17)56999-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="458955">Kaufman and Franklin (1979)</a> reported a family with 7 documented and other possible cases of pheochromocytoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=458955" 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="#38" class="mim-tip-reference" title="Ohno, F., Yamano, T., Kataoka, K. <strong>A case of congenital aniridia and familial pheochromocytoma--with special reference to aniridia-Wilms' tumor syndrome.</strong> Jpn. J. Hum. Genet. 27: 335-340, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6306309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6306309</a>] [<a href="https://doi.org/10.1007/BF01900445" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6306309">Ohno et al. (1982)</a> observed pheochromocytoma in 2 sisters whose father also had pheochromocytoma. One of the sisters had aniridia and her pheochromocytoma was malignant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6306309" 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="#48" class="mim-tip-reference" title="Toledo, S. P. A., Lourenco, D. M., Jr., Sekiya, T., Lucon, A. M., Baena, M. E. S., Castro, C. C., Bortolotto, L. A., Zerbini, M. C. N., Siqueira, S. A. C., Toledo, R. A., Dahia, P. L. M. <strong>Penetrance and clinical features of pheochromocytoma in a six-generation family carrying a germline TMEM127 mutation.</strong> J. Clin. Endocr. Metab. 100: E308-E318, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25389632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25389632</a>] [<a href="https://doi.org/10.1210/jc.2014-2473" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25389632">Toledo et al. (2015)</a> followed 11 individuals with pheochromocytoma from a 6-generation family. The median age at diagnosis was 43 years. Two patients were asymptomatic, and 9 had symptoms starting on average at age 29 (range 10-55 years). Tumors were multicentric in 5 and bilateral in 5 patients. Over half had at least 1 adrenomedullary nodule less than 10 mm. No paragangliomas, distant metastases, or other manifestations were reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25389632" 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>
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<p>In 34 sporadic and 7 familial instances of pheochromocytoma, <a href="#28" class="mim-tip-reference" title="Khosla, S., Patel, V. M., Hay, I. D., Schaid, D. J., Grant, C. S., van Heerden, J. A., Thibodeau, S. N. <strong>Loss of heterozygosity suggests multiple genetic alterations in pheochromocytomas and medullary thyroid carcinomas.</strong> J. Clin. Invest. 87: 1691-1699, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2022740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2022740</a>] [<a href="https://doi.org/10.1172/JCI115186" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2022740">Khosla et al. (1991)</a> found evidence of loss of heterozygosity (LOH) at multiple sites: 1p in 42%, 3p in 16%, 17p in 24%, and 22q in 31%. They also noted a correlation between LOH on 1p and urinary excretion of metanephrine by these patients (p = 0.02). LOH on 1p, 3p, and 17p also appeared to be associated with increased tumor volume. They suggested that tumor formation and/or progression in pheochromocytoma might involve multiple genes, analogous with the model proposed for colon carcinoma (<a href="#20" class="mim-tip-reference" title="Fearon, E. R., Vogelstein, B. <strong>A genetic model for colorectal tumorigenesis.</strong> Cell 61: 759-767, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2188735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2188735</a>] [<a href="https://doi.org/10.1016/0092-8674(90)90186-i" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2188735">Fearon and Vogelstein, 1990</a>). The findings of <a href="#33" class="mim-tip-reference" title="Moley, J. F., Brother, M. B., Fong, C. T., White, P. S., Baylin, S. B., Nelkin, B., Wells, S. A., Brodeur, G. M. <strong>Consistent association of 1p loss of heterozygosity with pheochromocytomas from patients with multiple endocrine neoplasia type 2 syndromes.</strong> Cancer Res. 52: 770-774, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1346584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1346584</a>]" pmid="1346584">Moley et al. (1992)</a> suggested that LOH on 1p is particularly frequent in pheochromocytoma, being found by them in all 9 pheochromocytomas in MEN2A and MEN2B, in 2 of 7 sporadic pheochromocytomas, and in 1 of 2 pheochromocytomas in von Hippel-Lindau patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2022740+1346584+2188735" 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>Linkage to Chromosome 2q11</em></strong></p><p>
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<a href="#12" class="mim-tip-reference" title="Dahia, P. L. M., Hao, K., Rogus, J., Colin, C., Pujana, M. A. G., Ross, K., Magoffin, D., Aronin, N., Cascon, A., Hayashida, C. Y., Li, C., Toledo, S. P. A., Stiles, C. D. <strong>Novel pheochromocytoma susceptibility loci identified by integrative genomics.</strong> Cancer Res. 65: 9651-9658, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16266984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16266984</a>] [<a href="https://doi.org/10.1158/0008-5472.CAN-05-1427" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16266984">Dahia et al. (2005)</a> reported a family of Brazilian-Portuguese descent in which 6 sibs had pheochromocytoma. Multipoint parametric linkage analysis revealed identical lod scores of 2.97 for chromosome 2cen and 16p13 loci. A 2-locus parametric linkage analysis produced a maximum lod score of 5.16 under a double-recessive multiplicative model, suggesting that both loci are required to develop the disease. Allele-specific LOH was detected only at the chromosome 2 locus in all tumors from this family, consistent with a tumor suppressing gene. High density LOH mapping with SNP-based array identified a total of 18 of 62 unrelated pheochromocytomas with LOH within the chromosome 2 region, which further narrowed down the locus to less than 2 cM. <a href="#12" class="mim-tip-reference" title="Dahia, P. L. M., Hao, K., Rogus, J., Colin, C., Pujana, M. A. G., Ross, K., Magoffin, D., Aronin, N., Cascon, A., Hayashida, C. Y., Li, C., Toledo, S. P. A., Stiles, C. D. <strong>Novel pheochromocytoma susceptibility loci identified by integrative genomics.</strong> Cancer Res. 65: 9651-9658, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16266984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16266984</a>] [<a href="https://doi.org/10.1158/0008-5472.CAN-05-1427" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16266984">Dahia et al. (2005)</a> interpreted their results as consistent with double-recessive digenic inheritance being responsible for the disease phenotype in this family. <a href="#42" class="mim-tip-reference" title="Qin, Y., Yao, L, King, E. E., Buddavarapu, K., Lenci, R. E., Chocron, E. S., Lechleiter, J. D., Sass, M., Aronin, N., Schiavi, F., Boaretto, F., Opocher, G., Toledo, R. A., Toledo, S. P. A., Stiles, C., Aguiar, R. C. T., Dahia, P. L. M. <strong>Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. (Letter)</strong> Nature Genet. 42: 229-233, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20154675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20154675</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20154675[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.533" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20154675">Qin et al. (2010)</a> provided follow-up of the family reported by <a href="#12" class="mim-tip-reference" title="Dahia, P. L. M., Hao, K., Rogus, J., Colin, C., Pujana, M. A. G., Ross, K., Magoffin, D., Aronin, N., Cascon, A., Hayashida, C. Y., Li, C., Toledo, S. P. A., Stiles, C. D. <strong>Novel pheochromocytoma susceptibility loci identified by integrative genomics.</strong> Cancer Res. 65: 9651-9658, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16266984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16266984</a>] [<a href="https://doi.org/10.1158/0008-5472.CAN-05-1427" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16266984">Dahia et al. (2005)</a>, and reported another affected individual. Reanalysis indicated that transmission pattern was consistent with autosomal dominant inheritance with reduced penetrance. The identification of more affected families allowed refinement of linkage to a 19.62-Mb region on chromosome 2q11. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20154675+16266984" 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>
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<p>Among a total of 130 patients with 185 pheochromocytomas, <a href="#35" class="mim-tip-reference" title="Neumann, H. P. H., Berger, D. P., Sigmund, G., Blum, U., Schmidt, D., Parmer, R. J., Volk, B., Kirste, G. <strong>Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease.</strong> New Eng. J. Med. 329: 1531-1538, 1993. Note: Erratum: New Eng. J. Med. 331: 1535 only, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8105382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8105382</a>] [<a href="https://doi.org/10.1056/NEJM199311183292103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8105382">Neumann et al. (1993)</a> determined that 43 had von Hippel-Lindau disease, 24 had MEN2, and 63 had sporadic tumors. The patients with familial pheochromocytoma were younger, had multifocal localization much more often, and had cancer more frequently; however, the frequency of extraadrenal tumors was lower in the familial cases. Pheochromocytoma was the only clinical manifestation of their syndrome in 38% of carriers of von Hippel-Lindau disease and 24% of carriers of MEN2. <a href="#35" class="mim-tip-reference" title="Neumann, H. P. H., Berger, D. P., Sigmund, G., Blum, U., Schmidt, D., Parmer, R. J., Volk, B., Kirste, G. <strong>Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease.</strong> New Eng. J. Med. 329: 1531-1538, 1993. Note: Erratum: New Eng. J. Med. 331: 1535 only, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8105382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8105382</a>] [<a href="https://doi.org/10.1056/NEJM199311183292103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8105382">Neumann et al. (1993)</a> concluded that all patients with pheochromocytoma should be screened for MEN2 and von Hippel-Lindau disease, and that all patients in families with MEN2 or von Hippel-Lindau disease should be screened for pheochromocytoma, even if they are asymptomatic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8105382" 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="#16" class="mim-tip-reference" title="Eisenhofer, G., Lenders, J. W. M., Linehan, W. M., Walther, M. M., Goldstein, D. S., Keiser, H. R. <strong>Plasma normetanephrine and metanephrine for detecting pheochromocytoma in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.</strong> New Eng. J. Med. 340: 1872-1879, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369850/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369850</a>] [<a href="https://doi.org/10.1056/NEJM199906173402404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10369850">Eisenhofer et al. (1999)</a> found that measurements of plasma normetanephrine and metanephrine were useful in screening for pheochromocytoma in patients with a familial disposition to these tumors. Both a high sensitivity (97%) and a high specificity (96%) were found. (Normetanephrine and metanephrine are the respective O-methylated metabolites of norepinephrine and epinephrine.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369850" 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="#39" class="mim-tip-reference" title="Pacak, K., Goldstein, D. S., Doppman, J. L., Shulkin, B. L., Udelsman, R., Eisenhofer, G. <strong>A 'pheo' lurks: novel approaches for locating occult pheochromocytoma.</strong> J. Clin. Endocr. Metab. 86: 3641-3646, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11502790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11502790</a>] [<a href="https://doi.org/10.1210/jcem.86.8.7714" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11502790">Pacak et al. (2001)</a> reported 2 novel approaches for localization of pheochromocytoma in a patient in whom conventional imaging modalities failed to show the tumor. First, they showed that measurements of plasma free metanephrines coupled with vena caval sampling were useful for localizing occult pheochromocytoma. Second, they showed that positron emission tomographic scanning using the imaging agent 6-[18F]fluorodopamine as a substrate for the norepinephrine transporter offered a highly effective method for tumor localization. The authors concluded that these novel approaches may be of value in difficult cases, in which biochemical and clinical evidence of pheochromocytoma is compelling, yet conventional imaging modalities fail to locate the tumor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11502790" 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="#43" class="mim-tip-reference" title="Sawka, A. M., Jaeschke, R., Singh, R. J., Young, W. F., Jr. <strong>A comparison of biochemical tests for pheochromocytoma: measurement of fractionated plasma metanephrines compared with the combination of 24-hour urinary metanephrines and catecholamines.</strong> J. Clin. Endocr. Metab. 88: 553-558, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12574179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12574179</a>] [<a href="https://doi.org/10.1210/jc.2002-021251" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12574179">Sawka et al. (2003)</a> compared the diagnostic efficacy of fractionated plasma metanephrine measurements to measurements of 24-hour urinary total metanephrines and catecholamines in outpatients tested for pheochromocytoma at Mayo Clinic Rochester. The sensitivity of fractionated plasma metanephrines was 97% compared with a sensitivity of 90% for urinary total metanephrines and catecholamines (p = 0.63). The specificity of fractionated plasma metanephrines was 85% compared with 98% for urinary measurements. An adrenal pheochromocytoma was missed by urinary testing in 2 patients with familial syndromes and 1 asymptomatic patient with an incidentally discovered adrenal mass. An extraadrenal paraganglioma was missed by plasma testing in 1 patient. The authors concluded that measurements of 24-hour urinary total metanephrines and catecholamines yield fewer false-positive results, an attribute preferred for testing low-risk patients, but that fractionated plasma metanephrine measurements may be preferred in high-risk patients with familial endocrine syndromes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12574179" 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>Tests of plasma fractionated metanephrines levels, on which the initial diagnosis of pheochromocytoma relies, have a high false positive rate due to the disease's rarity. After a study to evaluate 3 approaches to distinguish between true-positive and false-positive tests, <a href="#1" class="mim-tip-reference" title="Algeciras-Schimnich, A., Preissner, C. M., Young, W. F., Jr., Singh, R. J., Grebe, S. K. G. <strong>Plasma chromogranin A or urine fractionated metanephrines follow-up testing improves the diagnostic accuracy of plasma fractionated metanephrines for pheochromocytoma.</strong> J. Clin. Endocr. Metab. 93: 91-95, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17940110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17940110</a>] [<a href="https://doi.org/10.1210/jc.2007-1354" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17940110">Algeciras-Schimnich et al. (2008)</a> recommended that unless plasma fractionated metanephrines levels are elevated more than 4-fold above the upper limit of normal, patients with a positive plasma fractionated metanephrines test should be evaluated with urine fractionated metanephrines and serum/plasma CGA assays before being subjected to imaging or invasive diagnostic tests. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17940110" 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>
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<p><a href="#36" class="mim-tip-reference" title="Neumann, H. P. H., Reincke, M., Eng, C. <strong>Case 13-2001: genetic testing in pheochromocytoma. (Letter)</strong> New. Eng. J. Med. 345: 547 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11519521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11519521</a>]" pmid="11519521">Neumann et al. (2001)</a> stated that germline mutations in the VHL gene and in the SDHD gene together account for 15 to 20% of all nonfamilial presentations of pheochromocytoma. <a href="#34" class="mim-tip-reference" title="Neumann, H. P. H., Bausch, B., McWhinney, S. R., Bender, B. U., Gimm, O., Franke, G., Schipper, J., Klisch, J., Altehoefer, C., Zerres, K., Januszewicz, A., Eng, C. <strong>Germ-line mutations in nonsyndromic pheochromocytoma.</strong> New Eng. J. Med. 346: 1459-1466, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12000816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12000816</a>] [<a href="https://doi.org/10.1056/NEJMoa020152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12000816">Neumann et al. (2002)</a> identified germline mutations in 66 (24%) of 271 patients who presented with nonsyndromic pheochromocytoma and without a family history of disease. Eleven patients (4%) had 7 different germline mutations in the SDHD gene (see, e.g., <a href="/entry/602690#0002">602690.0002</a>; <a href="/entry/602690#0004">602690.0004</a>; <a href="/entry/602690#0025">602690.0025</a>; <a href="/entry/602690#0026">602690.0026</a>). Twelve patients (4%) had 9 different germline mutations in the SDHB gene (see, e.g., <a href="/entry/185470#0004">185470.0004</a>-<a href="/entry/185470#0006">185470.0006</a>; <a href="/entry/185470#0008">185470.0008</a>; <a href="/entry/185470#0009">185470.0009</a>). Thirteen patients (5%) had 7 different germline mutations in the RET gene (see, e.g., <a href="/entry/164761#0003">164761.0003</a>-<a href="/entry/164761#0006">164761.0006</a>; <a href="/entry/164761#0011">164761.0011</a>; <a href="/entry/164761#0012">164761.0012</a>; <a href="/entry/164761#0034">164761.0034</a>). Thirty patients (11%) had 22 different mutations in the VHL gene (see, e.g., <a href="/entry/608537#0003">608537.0003</a>; <a href="/entry/608537#0014">608537.0014</a>; <a href="/entry/608537#0026">608537.0026</a>). Clinically, the presence of a germline mutation was associated with younger age, multifocal tumors, and extraadrenal tumors. However, among the 66 patients who were positive for mutations, only 21 had multifocal pheochromocytoma. In 23 (35%), the tumor presented after the age of 30 years, and in 17 (8%) after the age of 40. <a href="#34" class="mim-tip-reference" title="Neumann, H. P. H., Bausch, B., McWhinney, S. R., Bender, B. U., Gimm, O., Franke, G., Schipper, J., Klisch, J., Altehoefer, C., Zerres, K., Januszewicz, A., Eng, C. <strong>Germ-line mutations in nonsyndromic pheochromocytoma.</strong> New Eng. J. Med. 346: 1459-1466, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12000816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12000816</a>] [<a href="https://doi.org/10.1056/NEJMoa020152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12000816">Neumann et al. (2002)</a> concluded that since almost one-fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations, routine analysis for mutations in the 4 genes studied is indicated to identify pheochromocytoma-associated syndromes that would otherwise be missed. Sixty-one (92%) of the 66 patients had no associated signs and symptoms of a syndrome at the time of presentation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11519521+12000816" 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>Mutation in the VHL Gene</em></strong></p><p>
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In affected members of 2 unrelated kindreds with pheochromocytoma with no clinical evidence of VHL disease, <a href="#11" class="mim-tip-reference" title="Crossey, P. A., Eng, C., Ginalska-Malinowska, M., Lennard, T. W. J., Wheeler, D. C., Ponder, B. A. J., Maher, E. R. <strong>Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.</strong> J. Med. Genet. 32: 885-886, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8592333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8592333</a>] [<a href="https://doi.org/10.1136/jmg.32.11.885" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8592333">Crossey et al. (1995)</a> identified 2 missense mutations in the VHL gene (V84L; <a href="/entry/608537#0025">608537.0025</a> and R238W; <a href="/entry/608537#0003">608537.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8592333" 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 4 of 48 sporadic pheochromocytomas, <a href="#17" class="mim-tip-reference" title="Eng, C., Crossey, P. A., Mulligan, L. M., Healey, C. S., Houghton, C., Prowse, A., Chew, S. L., Dahia, P. L. M., O'Riordan, J. L. H., Toledo, S. P. A., Smith, D. P., Maher, E. R., Ponder, B. A. J. <strong>Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas.</strong> J. Med. Genet. 32: 934-937, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8825918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8825918</a>] [<a href="https://doi.org/10.1136/jmg.32.12.934" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8825918">Eng et al. (1995)</a> identified mutations in the VHL gene. Two mutations were somatic and 2 were germline. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8825918" 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="#52" class="mim-tip-reference" title="Woodward, E. R., Eng, C., McMahon, R., Voutilainen, R., Affara, N. A., Ponder, B. A. J., Maher, E. R. <strong>Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.</strong> Hum. Molec. Genet. 6: 1051-1056, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215674</a>] [<a href="https://doi.org/10.1093/hmg/6.7.1051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9215674">Woodward et al. (1997)</a> identified germline missense mutations in the VHL gene in 3 of 8 kindreds with familial pheochromocytoma. A germline VHL mutation was also characterized in 1 of 2 patients with bilateral pheochromocytoma. No mutations were identified in the VHL or RET genes in 6 patients with multiple extraadrenal pheochromocytoma or adrenal pheochromocytoma with a family history of neuroectodermal tumors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9215674" 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="Brauch, H., Hoeppner, W., Jahnig, H., Wohl, T., Engelhardt, D., Spelsberg, F., Ritter, M. M. <strong>Sporadic pheochromocytomas are rarely associated with germline mutations in the VHL tumor suppressor gene or the RET protooncogene.</strong> J. Clin. Endocr. Metab. 82: 4101-4104, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9398721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9398721</a>] [<a href="https://doi.org/10.1210/jcem.82.12.4454" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9398721">Brauch et al. (1997)</a> found VHL mutations in 2 (3%) of 62 German patients with pheochromocytoma without a history of hereditary disease; No mutations were detected in the RET gene. <a href="#2" class="mim-tip-reference" title="Bar, M., Friedman, E., Jakobovitz, O., Leibowitz, G., Lerer, I., Abeliovich, D., Gross, D. J. <strong>Sporadic phaeochromocytomas are rarely associated with germline mutations in the von Hippel-Lindau and RET genes.</strong> Clin. Endocr. 47: 707-712, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9497878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9497878</a>] [<a href="https://doi.org/10.1046/j.1365-2265.1997.3251150.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9497878">Bar et al. (1997)</a> found that 1 of 27 sporadic patients with pheochromocytoma had a VHL germline mutation; none had a RET mutation. Both groups concluded that sporadic pheochromocytomas are rarely associated with germline mutations in either of these genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9497878+9398721" 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="#49" class="mim-tip-reference" title="van der Harst, E., de Krijger, R. R., Dinjens, W. N. M., Weeks, L. E., Bonjer, H. J., Bruining, H. A., Lamberts, S. W. J., Koper, J. W. <strong>Germline mutations in the VHL gene in patients presenting with phaeochromocytomas.</strong> Int. J. Cancer. 77: 337-340, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9663592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9663592</a>] [<a href="https://doi.org/10.1002/(sici)1097-0215(19980729)77:3<337::aid-ijc5>3.0.co;2-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9663592">Van der Harst et al. (1998)</a> identified a mutation in the VHL gene (R64P; <a href="/entry/608537#0015">608537.0015</a>) in an uncle and his nephew with pheochromocytoma. Mutations in the VHL gene were identified in 4 other unrelated patients with pheochromocytomas (see, e.g., L63P, <a href="/entry/608537#0016">608537.0016</a>). In total, 6 (8.8%) of 68 patients with pheochromocytomas had germline mutations in the VHL gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9663592" 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>Using comparative genomic hybridization, <a href="#24" class="mim-tip-reference" title="Hering, A., Guratowska, M., Bucsky, P., Claussen, U., Decker, J., Ernst, G., Hoeppner, W., Michel, S., Neumann, H., Parlowsky, T., Loncarevic, I. <strong>Characteristic genomic imbalances in pediatric pheochromocytoma.</strong> Genes Chromosomes Cancer 45: 602-607, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16518846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16518846</a>] [<a href="https://doi.org/10.1002/gcc.20323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16518846">Hering et al. (2006)</a> found that 10 (72%) of 14 pediatric pheochromocytoma tumors had a combinatorial loss of chromatin from chromosome 3p and 11p, resulting from either a total loss of chromosomes 3 and 11 (6 patients) or confined deletions of the 3p and 11p arms (4 patients). All of these patients had mutations in the VHL gene. The findings suggested that mutations in the VHL gene select for combinatorial deletions of 3p and 11p. Of the 4 remaining patients, 2 had familial syndromes (NF1 and PGL1, respectively) and 2 had unknown etiology. <a href="#24" class="mim-tip-reference" title="Hering, A., Guratowska, M., Bucsky, P., Claussen, U., Decker, J., Ernst, G., Hoeppner, W., Michel, S., Neumann, H., Parlowsky, T., Loncarevic, I. <strong>Characteristic genomic imbalances in pediatric pheochromocytoma.</strong> Genes Chromosomes Cancer 45: 602-607, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16518846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16518846</a>] [<a href="https://doi.org/10.1002/gcc.20323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16518846">Hering et al. (2006)</a> concluded that true sporadic pheochromocytoma is rare in childhood and that affected children should be screened for a predisposing gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16518846" 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>Mutation in the RET Gene</em></strong></p><p>
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In 5 of 48 apparently sporadic pheochromocytomas, <a href="#17" class="mim-tip-reference" title="Eng, C., Crossey, P. A., Mulligan, L. M., Healey, C. S., Houghton, C., Prowse, A., Chew, S. L., Dahia, P. L. M., O'Riordan, J. L. H., Toledo, S. P. A., Smith, D. P., Maher, E. R., Ponder, B. A. J. <strong>Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas.</strong> J. Med. Genet. 32: 934-937, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8825918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8825918</a>] [<a href="https://doi.org/10.1136/jmg.32.12.934" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8825918">Eng et al. (1995)</a> identified mutations in the RET gene. Of these, 1 was a germline mutation (C634G; <a href="/entry/164761#0003">164761.0003</a>) and another was a somatic mutation (M918T; <a href="/entry/164761#0013">164761.0013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8825918" 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>Mutation in the SDHD Gene</em></strong></p><p>
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In tumor tissue from a patient with sporadic pheochromocytoma, <a href="#22" class="mim-tip-reference" title="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>]" pmid="11156372">Gimm et al. (2000)</a> identified a mutation in the SDHD gene (P81L; <a href="/entry/602690#0003">602690.0003</a>). Flanking markers also showed loss of heterozygosity. <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><strong><em>Mutation in the TMEM127 Gene</em></strong></p><p>
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<a href="#42" class="mim-tip-reference" title="Qin, Y., Yao, L, King, E. E., Buddavarapu, K., Lenci, R. E., Chocron, E. S., Lechleiter, J. D., Sass, M., Aronin, N., Schiavi, F., Boaretto, F., Opocher, G., Toledo, R. A., Toledo, S. P. A., Stiles, C., Aguiar, R. C. T., Dahia, P. L. M. <strong>Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. (Letter)</strong> Nature Genet. 42: 229-233, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20154675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20154675</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20154675[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.533" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20154675">Qin et al. (2010)</a> identified 7 different heterozygous mutations in the TMEM127 gene (see, e.g., <a href="/entry/613403#0001">613403.0001</a>-<a href="/entry/613403#0004">613403.0004</a>) in 7 unrelated probands with pheochromocytoma. Six of the mutations were truncating mutations, consistent with a loss of function. All tumors examined showed loss of heterozygosity at the TMEM127 locus, suggesting a classic mechanism of the 2-hit model of tumor suppressor inactivation. Four of the probands had a family history of pheochromocytoma. The average age of onset was 45.3 years, all tumors arose from the adrenal medulla, and they were bilateral in about half of cases. Overall, mutations were found in about 30% of familial cases and 3% of sporadic cases. Microarray-based expression profiling showed that the transcription signature of TMEM127-mutant tumors was increased in kinase receptor signals, similar to pheochromocytomas due to NF1 (<a href="/entry/162200">162200</a>) and RET (<a href="/entry/164761">164761</a>) mutations. This was in contrast to the expression profiles of pheochromocytomas with mutations in the VHL (<a href="/entry/608537">608537</a>), SDHB (<a href="/entry/185470">185470</a>) or SDHD (<a href="/entry/602690">602690</a>) genes, which were uniquely enriched in transcripts involved in response to hypoxia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20154675" 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>Mutation in the MAX Gene</em></strong></p><p>
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Using exome sequencing in 3 unrelated families with bilateral pheochromocytoma, <a href="#9" class="mim-tip-reference" title="Comino-Mendez, I., Gracia-Aznarez, F. J., Schiavi, F., Landa, I., Leandro-Garcia, L. J., Leton, R., Honrado, E., Ramos-Medina, R., Caronia, D., Pita, G., Gomez-Grana, A., de Cubas, A. A., and 17 others. <strong>Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.</strong> Nature Genet. 43: 663-667, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21685915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21685915</a>] [<a href="https://doi.org/10.1038/ng.861" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21685915">Comino-Mendez et al. (2011)</a> identified 3 different heterozygous germline mutations in the MAX gene (<a href="/entry/154950#0001">154950.0001</a>-<a href="/entry/154950#0003">154950.0003</a>) that segregated with the disease. A follow-up study of 59 patients with pheochromocytoma identified 5 additional mutations (see, e.g., <a href="/entry/154950#0004">154950.0004</a>-<a href="/entry/154950#0005">154950.0005</a>). Studies of tumor tissue showed a lack of full-length MAX protein and loss of heterozygosity (LOH) of the MAX allele, which resulted from paternal uniparental disomy (UPD) and loss of the maternal allele. This LOH constituted the somatic second-hit of the Knudson hypothesis. The paternal origin of the mutated allele detected in 6 families suggested preferential paternal transmission of the disease (p = 0.031). In addition, 2 children who inherited the mutation from their mother and 2 obligate carriers from another family did not develop tumors, further supporting this theory. Eight of 12 cases had bilateral tumors, and 3 of 8 probands had metastases at diagnosis. Overall, the findings indicated that MAX acts as a classic tumor suppressor gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21685915" 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>Somatic Mutations</em></strong></p><p>
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Using genomewide copy number analysis to study several genes known to be associated with pheochromocytomas, <a href="#51" class="mim-tip-reference" title="Welander, J., Larsson, C., Backdahl, M., Hareni, N., Sivler, T., Brauckhoff, M., Soderkvist, P., Gimm, O. <strong>Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas.</strong> Hum. Molec. Genet. 21: 5406-5416, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23010473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23010473</a>] [<a href="https://doi.org/10.1093/hmg/dds402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23010473">Welander et al. (2012)</a> found that 35 (83%) of 42 samples had an altered copy number of at least 1 of the genes involved in familial pheochromocytoma. Eleven (26%) of the tumors had loss of 1 copy of NF1, and sequencing showed that 10 of the 11 carried a somatic truncating mutation in the NF1 gene. Loss of NF1 was associated with low mRNA expression in the tumors. Most tumors displayed loss of the normal allele, but in 2 cases there was no sign of loss of heterozygosity, although mRNA expression was clearly reduced. Frequent copy number variation in sporadic tumors was also observed for the VHL, SDHD, SDHAF2, and KIF1B genes. The findings suggested that the NF1 gene constitutes a common target of somatic mutations in sporadic pheochromocytomas. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23010473" 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>By direct sequencing of the NF1 gene, <a href="#5" class="mim-tip-reference" title="Burnichon, N., Buffet, A., Parfait, B., Letouze, E., Laurendeau, I., Loriot, C., Pasmant, E., Abermil, N., Valeyrie-Allanore, L., Bertherat, J., Amar, L., Vidaud, D., Favier, J., Gimenez-Roqueplo, A.-P. <strong>Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.</strong> Hum. Molec. Genet. 21: 5397-5405, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22962301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22962301</a>] [<a href="https://doi.org/10.1093/hmg/dds374" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22962301">Burnichon et al. (2012)</a> identified a somatic inactivating NF1 mutation in 25 (41%) of 61 pheochromocytomas, which was associated with loss of the wildtype allele in 21 (84%) of the 25 cases. Gene expression signature of NF1-related tumors highlighted the downregulation of NF1 and the major overexpression of SOX9 (<a href="/entry/608160">608160</a>). Among a second set of 11 tumors, 2 sporadic tumors carried somatic mutations in NF1 as well as in another susceptibility gene. These findings suggested that NF1 loss of function is a frequent event in the tumorigenesis of sporadic pheochromocytoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22962301" 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>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between pheochromocytoma and variation in the SDHAF2 gene, see <a href="/entry/613019#0002">613019.0002</a>.</p><p>In 1 of 28 sporadic pheochromocytomas, <a href="#52" class="mim-tip-reference" title="Woodward, E. R., Eng, C., McMahon, R., Voutilainen, R., Affara, N. A., Ponder, B. A. J., Maher, E. R. <strong>Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.</strong> Hum. Molec. Genet. 6: 1051-1056, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215674</a>] [<a href="https://doi.org/10.1093/hmg/6.7.1051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9215674">Woodward et al. (1997)</a> identified a mutation in the GDNF gene (R93W; <a href="/entry/600837#0001">600837.0001</a>), which is a natural ligand for RET. The mutation was present in both germline and tumor tissue. The authors suggested that the mutation could function as a susceptibility mutation for PCC of low penetrance. However, <a href="#13" class="mim-tip-reference" title="Dahia, P. L., Toledo, S. P., Mulligan, L. M., Maher, E. R., Grossman, A. B., Eng, C. <strong>Mutation analysis of glial cell line-derived neurotrophic factor (GDNF), a ligand for the RET/GDNF receptor alpha complex, in sporadic phaeochromocytomas.</strong> Cancer Res. 57: 310-313, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9000574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9000574</a>]" pmid="9000574">Dahia et al. (1997)</a> identified no pathogenic mutations in GDNF in 22 sporadic PCC tissues by semiquantitative PCR. Thus, GDNF allelic variants may influence the susceptibility of a patient to PCC but only small cohorts of PCC have been studied (<a href="#41" class="mim-tip-reference" title="Pillai, S., Gopalan, V., Smith, R. A., Lam, A. K. <strong>Updates on the genetics and the clinical impacts on phaeochromocytoma and paraganglioma in the new era.</strong> Crit. Rev. Oncol. Hemat. 100: 190-208, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26839173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26839173</a>] [<a href="https://doi.org/10.1016/j.critrevonc.2016.01.022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26839173">Pillai et al., 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=26839173+9000574+9215674" 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>
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<p>The first description of pheochromocytoma is attributed to Felix Frankel (<a href="#31" class="mim-tip-reference" title="Manger, W. M. <strong>An overview of pheochromocytoma: history, current concepts, vagaries, and diagnostic challenges.</strong> Ann. N.Y. Acad. Sci. 1073: 1-20, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17102067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17102067</a>] [<a href="https://doi.org/10.1196/annals.1353.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17102067">Manger, 2006</a>). The 1886 publication described an 18-year-old woman named Minna Roll, a resident of Wittenweier (near the country town of Lahr) in Germany, who had died in 1884 (<a href="#21" class="mim-tip-reference" title="Frankel, F. <strong>Ein Fall von doppelseitigem, vollig latent verlaufenen Nebennierentumor und gleichzeitiger Nephritis mit Veranderungen am Circulationsapparat und Retinitis.</strong> Arch. Path. Anat. Physiol. Klin. Med. 103: 244-263, 1886."None>Frankel, 1886</a>). She was treated and died at the University Hospital of Freiburg. At autopsy, bilateral adrenal tumors were found. The patient had paroxysms of palpitations, dizziness, headache, and reduction of visual acuity. Signs of hypertension included classic features of stage IV hypertensive retinopathy on retinal examination. Frankel and his colleagues in pathology reported what they called bilateral adrenal sarcoma and angiosarcoma. Remarkably, Frankel considered that abnormal quantities of a substance normally present in the blood might be released in an unregulated manner to the circulation, resulting in 'irritation' of the blood vessels and parenchyma of other organs. Thus, he postulated the endocrine nature and function of the adrenal medulla. Living relatives of Minna Roll were identified in the Black Forest region. Three of them were found to have pheochromocytoma plus medullary thyroid carcinoma, 3 others had pheochromocytoma, and 1 had isolated medullary thyroid carcinoma. In a grandnephew of the proband, a cys634-to-trp missense mutation of the RET gene (<a href="/entry/164761#0053">164761.0053</a>) was found. In the gross autopsy, a 'goiter' was described in the proband's thyroid, which was not histologically pursued. Given the medullary thyroid carcinoma and pheochromocytoma in this family and the RET mutation, the patient clearly had multiple endocrine neoplasia type 2 (<a href="/entry/171400">171400</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17102067" 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="Fairchild, R. S., Kyner, J. L., Hermreck, A., Schimke, R. N. <strong>Neuroblastoma, pheochromocytoma, and renal cell carcinoma: occurrence in a single patient.</strong> JAMA 242: 2210-2211, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/490809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">490809</a>]" pmid="490809">Fairchild et al. (1979)</a> described a 29-year-old woman who had neuroblastoma (<a href="/entry/256700">256700</a>) during infancy, developed an extraadrenal pheochromocytoma at age 16 years, with subsequent hepatic recurrence, and was found to have multifocal renal cell carcinoma (<a href="/entry/144700">144700</a>). Although renal cell carcinoma and pheochromocytoma are combined in the von Hippel-Lindau syndrome, there was no other evidence for VHL in this patient. <a href="#44" class="mim-tip-reference" title="Schimke, R. N., Collins, D. L., Stolle, C. A. <strong>Paraganglioma, neuroblastoma, and a SDHB mutation: resolution of a 30-year-old mystery.</strong> Am. J. Med. Genet. 152A: 1531-1535, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20503330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20503330</a>] [<a href="https://doi.org/10.1002/ajmg.a.33384" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20503330">Schimke et al. (2010)</a> reported 2 sibs of the patient reported by <a href="#19" class="mim-tip-reference" title="Fairchild, R. S., Kyner, J. L., Hermreck, A., Schimke, R. N. <strong>Neuroblastoma, pheochromocytoma, and renal cell carcinoma: occurrence in a single patient.</strong> JAMA 242: 2210-2211, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/490809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">490809</a>]" pmid="490809">Fairchild et al. (1979)</a> who developed paraspinal paragangliomas in adulthood, and a cousin of these sibs who died of metastatic renal cell carcinoma and had a history of a benign paraaortic PGL. Genetic analysis identified a heterozygous mutation in the SDHB gene (V140F; <a href="/entry/185470#0016">185470.0016</a>), consistent with paragangliomas-4 (PGL4; <a href="/entry/115310">115310</a>). There were 2 unaffected family members, suggesting decreased penetrance or a 'leaky' mutation. <a href="#44" class="mim-tip-reference" title="Schimke, R. N., Collins, D. L., Stolle, C. A. <strong>Paraganglioma, neuroblastoma, and a SDHB mutation: resolution of a 30-year-old mystery.</strong> Am. J. Med. Genet. 152A: 1531-1535, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20503330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20503330</a>] [<a href="https://doi.org/10.1002/ajmg.a.33384" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20503330">Schimke et al. (2010)</a> noted the importance of family history in elucidating the etiology of this inherited disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20503330+490809" 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 family in which pheochromocytomas were reported to be caused by a variant in the KIF1B gene (see <a href="/entry/605995#0005">605995.0005</a>) by <a href="#45" class="mim-tip-reference" title="Schlisio, S., Kenchappa, R. S., Vredeveld, L. C. W., George, R. E., Stewart, R., Greulich, H., Shahriari, K., Nguyen, N. V., Pigny, P., Dahia, P. L., Pomeroy, S. L., Maris, J. M., Look, A. T., Meyerson, M., Peeper, D. S., Carter, B. D., Kaelin, W. G., Jr. <strong>The kinesin KIF1B-beta (sic) acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor.</strong> Genes Dev. 22: 884-893, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18334619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18334619</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18334619[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1101/gad.1648608" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18334619">Schlisio et al. (2008)</a>, a follow-up study of the family by <a href="#7" class="mim-tip-reference" title="Cardot Bauters, C., Leteurtre, E., Carnaille, B., Do Cao, C., Espiard, S., Penven, M., Destailleur, E., Szuster, I., Lovecchio, T., Leclerc, J., Frenois, F., Esquivel, E., Dahia, P. L. M., Ait-Yahya, E., Crepin, M., Pigny, P. <strong>Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B.</strong> Endocr. Connect. 9: 1042-1050, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33112832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33112832</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33112832[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1530/EC-20-0460" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33112832">Cardot Bauters et al. (2020)</a> concluded that the pheochromocytomas were caused by a variant in the MAX gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=33112832+18334619" 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>
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<a href="#Carman1960" class="mim-tip-reference" title="Carman, C. T., Brashear, R. E. <strong>Pheochromocytoma as an inherited abnormality: report of the tenth affected kindred and review of the literature.</strong> New Eng. J. Med. 263: 419-423, 1960.">Carman and Brashear (1960)</a>; <a href="#Cook1960" class="mim-tip-reference" title="Cook, J. E., Urich, R. W., Sample, H. G., Jr., Fawcett, N. W. <strong>Peculiar familial and malignant pheochromocytomas of the organs of Zuckerkandl.</strong> Ann. Intern. Med. 52: 126-133, 1960.">Cook et al. (1960)</a>; <a href="#Dunn1976" class="mim-tip-reference" title="Dunn, F. G., De Carvalho, J. G. R., Kem, D. C., Higgins, J. R., Frohlich, E. D. <strong>Pheochromocytoma crisis induced by saralasin: relation of angiotensin analogue to catecholamine release.</strong> New Eng. J. Med. 295: 605-607, 1976.">Dunn et al. (1976)</a>; <a href="#Ho1978" class="mim-tip-reference" title="Ho, A. D., Feurle, G., Gless, K.-H., Brandeis, W. E. <strong>Normotensive familial phaeochromocytoma with predominant noradrenaline secretion.</strong> Brit. Med. J. 1: 81-82, 1978.">Ho et al. (1978)</a>; <a href="#Hradec1961" class="mim-tip-reference" title="Hradec, E., Maratka, Z., Paleckrova, M. <strong>Le pheochromocytome avec caractere familial.</strong> J. Chir. (Paris) 81: 479-486, 1961.">Hradec et al. (1961)</a>; <a href="#Melicow1977" class="mim-tip-reference" title="Melicow, M. M. <strong>One hundred cases of pheochromocytoma (107 tumors) at the Columbia-Presbyterian Medical Center, 1926-1976: a clinicopathological analysis.</strong> Cancer 40: 1987-2004, 1977.">Melicow (1977)</a>; <a href="#Neumann2007" class="mim-tip-reference" title="Neumann, H. P. H., Vortmeyer, A., Schmidt, D., Werner, M., Erlic, Z., Cascon, A., Bausch, B., Januszewicz, A., Eng, C. <strong>Evidence of MEN-2 in the original description of classic pheochromocytoma.</strong> New Eng. J. Med. 357: 1311-1315, 2007.">Neumann et
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al. (2007)</a>; <a href="#Pearse1969" class="mim-tip-reference" title="Pearse, A. G. E. <strong>The cytochemistry and ultrastructure of polypeptide hormone-producing cells of the APUD series and the embryologic, physiologic, and pathologic implications of the concept.</strong> J. Histochem. Cytochem. 17: 303-313, 1969.">Pearse (1969)</a>; <a href="#Strunge1972" class="mim-tip-reference" title="Strunge, P., Ingstrup, H. M., Lochte, J. J., Zimmermann-Nielsen, C. <strong>Bilateral phaeochromocytoma in two brothers.</strong> Acta Paediat. Scand. 61: 729-732, 1972.">Strunge et al. (1972)</a>; <a href="#Von1962" class="mim-tip-reference" title="Von Doepp, C. E. <strong>Das Phaeochromocytom als dominant vererbbare dysgenetische Geschwulst.</strong> Virchows Arch. Path. Anat. Physiol. Klin. Med 335: 231-239, 1962.">Von Doepp (1962)</a>
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</span>
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|
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<ol>
|
|
|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Algeciras-Schimnich2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Algeciras-Schimnich, A., Preissner, C. M., Young, W. F., Jr., Singh, R. J., Grebe, S. K. G.
|
|
<strong>Plasma chromogranin A or urine fractionated metanephrines follow-up testing improves the diagnostic accuracy of plasma fractionated metanephrines for pheochromocytoma.</strong>
|
|
J. Clin. Endocr. Metab. 93: 91-95, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17940110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17940110</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17940110" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
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|
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[<a href="https://doi.org/10.1210/jc.2007-1354" target="_blank">Full Text</a>]
|
|
|
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</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Bar1997" class="mim-anchor"></a>
|
|
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|
|
<p class="mim-text-font">
|
|
Bar, M., Friedman, E., Jakobovitz, O., Leibowitz, G., Lerer, I., Abeliovich, D., Gross, D. J.
|
|
<strong>Sporadic phaeochromocytomas are rarely associated with germline mutations in the von Hippel-Lindau and RET genes.</strong>
|
|
Clin. Endocr. 47: 707-712, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9497878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9497878</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9497878" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
|
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|
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[<a href="https://doi.org/10.1046/j.1365-2265.1997.3251150.x" target="_blank">Full Text</a>]
|
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</p>
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
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|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bolande, R. P.
|
|
<strong>The neurocristopathies: a unifying concept of disease arising in neural crest maldevelopment.</strong>
|
|
Hum. Path. 5: 409-429, 1974.
|
|
|
|
|
|
|
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|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
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|
|
<a id="4" class="mim-anchor"></a>
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<a id="Brauch1997" class="mim-anchor"></a>
|
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|
|
<p class="mim-text-font">
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Brauch, H., Hoeppner, W., Jahnig, H., Wohl, T., Engelhardt, D., Spelsberg, F., Ritter, M. M.
|
|
<strong>Sporadic pheochromocytomas are rarely associated with germline mutations in the VHL tumor suppressor gene or the RET protooncogene.</strong>
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|
J. Clin. Endocr. Metab. 82: 4101-4104, 1997.
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|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9398721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9398721</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9398721" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1210/jcem.82.12.4454" target="_blank">Full Text</a>]
|
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|
</p>
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
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|
|
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|
|
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|
|
Burnichon, N., Buffet, A., Parfait, B., Letouze, E., Laurendeau, I., Loriot, C., Pasmant, E., Abermil, N., Valeyrie-Allanore, L., Bertherat, J., Amar, L., Vidaud, D., Favier, J., Gimenez-Roqueplo, A.-P.
|
|
<strong>Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.</strong>
|
|
Hum. Molec. Genet. 21: 5397-5405, 2012.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22962301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22962301</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22962301" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/dds374" target="_blank">Full Text</a>]
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|
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Calkins, E., Howard, J. E.
|
|
<strong>Bilateral familial pheochromocytoma with paroxysmal hypertension: successful surgical removal of tumors in 2 cases, with discussion of certain diagnostic and physiological considerations.</strong>
|
|
J. Clin. Endocr. 7: 475-492, 1947.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20260947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20260947</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20260947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1210/jcem-7-7-475" target="_blank">Full Text</a>]
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Cardot Bauters, C., Leteurtre, E., Carnaille, B., Do Cao, C., Espiard, S., Penven, M., Destailleur, E., Szuster, I., Lovecchio, T., Leclerc, J., Frenois, F., Esquivel, E., Dahia, P. L. M., Ait-Yahya, E., Crepin, M., Pigny, P.
|
|
<strong>Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B.</strong>
|
|
Endocr. Connect. 9: 1042-1050, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33112832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33112832</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33112832[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=33112832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1530/EC-20-0460" target="_blank">Full Text</a>]
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<a id="Carman1960" class="mim-anchor"></a>
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Carman, C. T., Brashear, R. E.
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<strong>Pheochromocytoma as an inherited abnormality: report of the tenth affected kindred and review of the literature.</strong>
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New Eng. J. Med. 263: 419-423, 1960.
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Comino-Mendez, I., Gracia-Aznarez, F. J., Schiavi, F., Landa, I., Leandro-Garcia, L. J., Leton, R., Honrado, E., Ramos-Medina, R., Caronia, D., Pita, G., Gomez-Grana, A., de Cubas, A. A., and 17 others.
|
|
<strong>Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.</strong>
|
|
Nature Genet. 43: 663-667, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21685915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21685915</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21685915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.861" target="_blank">Full Text</a>]
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Cook, J. E., Urich, R. W., Sample, H. G., Jr., Fawcett, N. W.
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<strong>Peculiar familial and malignant pheochromocytomas of the organs of Zuckerkandl.</strong>
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Ann. Intern. Med. 52: 126-133, 1960.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13811705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13811705</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13811705" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.7326/0003-4819-52-1-126" target="_blank">Full Text</a>]
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Crossey, P. A., Eng, C., Ginalska-Malinowska, M., Lennard, T. W. J., Wheeler, D. C., Ponder, B. A. J., Maher, E. R.
|
|
<strong>Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.</strong>
|
|
J. Med. Genet. 32: 885-886, 1995.
|
|
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8592333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8592333</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8592333" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.32.11.885" target="_blank">Full Text</a>]
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Dahia, P. L. M., Hao, K., Rogus, J., Colin, C., Pujana, M. A. G., Ross, K., Magoffin, D., Aronin, N., Cascon, A., Hayashida, C. Y., Li, C., Toledo, S. P. A., Stiles, C. D.
|
|
<strong>Novel pheochromocytoma susceptibility loci identified by integrative genomics.</strong>
|
|
Cancer Res. 65: 9651-9658, 2005.
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16266984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16266984</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16266984" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1158/0008-5472.CAN-05-1427" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Dahia1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dahia, P. L., Toledo, S. P., Mulligan, L. M., Maher, E. R., Grossman, A. B., Eng, C.
|
|
<strong>Mutation analysis of glial cell line-derived neurotrophic factor (GDNF), a ligand for the RET/GDNF receptor alpha complex, in sporadic phaeochromocytomas.</strong>
|
|
Cancer Res. 57: 310-313, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9000574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9000574</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9000574" 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="14" class="mim-anchor"></a>
|
|
<a id="Dluhy2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dluhy, R. G.
|
|
<strong>Pheochromocytoma--death of an axiom.</strong>
|
|
New Eng. J. Med. 346: 1486-1488, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12000821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12000821</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12000821" 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/NEJM200205093461911" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Dunn1976" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dunn, F. G., De Carvalho, J. G. R., Kem, D. C., Higgins, J. R., Frohlich, E. D.
|
|
<strong>Pheochromocytoma crisis induced by saralasin: relation of angiotensin analogue to catecholamine release.</strong>
|
|
New Eng. J. Med. 295: 605-607, 1976.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/820996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">820996</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=820996" 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/NEJM197609092951107" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Eisenhofer1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Eisenhofer, G., Lenders, J. W. M., Linehan, W. M., Walther, M. M., Goldstein, D. S., Keiser, H. R.
|
|
<strong>Plasma normetanephrine and metanephrine for detecting pheochromocytoma in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.</strong>
|
|
New Eng. J. Med. 340: 1872-1879, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369850/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369850</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369850" 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/NEJM199906173402404" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Eng1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Eng, C., Crossey, P. A., Mulligan, L. M., Healey, C. S., Houghton, C., Prowse, A., Chew, S. L., Dahia, P. L. M., O'Riordan, J. L. H., Toledo, S. P. A., Smith, D. P., Maher, E. R., Ponder, B. A. J.
|
|
<strong>Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas.</strong>
|
|
J. Med. Genet. 32: 934-937, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8825918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8825918</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8825918" 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.32.12.934" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Engelman1968" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Engelman, K., Horwitz, D., Ambrose, I. M., Sjoerdsma, A.
|
|
<strong>Further evaluation of the tyramine test for pheochromocytoma.</strong>
|
|
New Eng. J. Med. 278: 705-709, 1968.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5638691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5638691</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5638691" 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/NEJM196803282781304" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Fairchild1979" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fairchild, R. S., Kyner, J. L., Hermreck, A., Schimke, R. N.
|
|
<strong>Neuroblastoma, pheochromocytoma, and renal cell carcinoma: occurrence in a single patient.</strong>
|
|
JAMA 242: 2210-2211, 1979.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/490809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">490809</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=490809" 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="Fearon1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fearon, E. R., Vogelstein, B.
|
|
<strong>A genetic model for colorectal tumorigenesis.</strong>
|
|
Cell 61: 759-767, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2188735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2188735</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2188735" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0092-8674(90)90186-i" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Frankel1886" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Frankel, F.
|
|
<strong>Ein Fall von doppelseitigem, vollig latent verlaufenen Nebennierentumor und gleichzeitiger Nephritis mit Veranderungen am Circulationsapparat und Retinitis.</strong>
|
|
Arch. Path. Anat. Physiol. Klin. Med. 103: 244-263, 1886.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" 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="23" class="mim-anchor"></a>
|
|
<a id="Hadorn1963" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hadorn, W.
|
|
<strong>Maligne Hypernephroide und paraganglionaere Mischgeschwuelste der Nebenniere bei drei Geschwistern.</strong>
|
|
Helv. Med. Acta 30: 291-296, 1963.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5879103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5879103</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5879103" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Hering2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hering, A., Guratowska, M., Bucsky, P., Claussen, U., Decker, J., Ernst, G., Hoeppner, W., Michel, S., Neumann, H., Parlowsky, T., Loncarevic, I.
|
|
<strong>Characteristic genomic imbalances in pediatric pheochromocytoma.</strong>
|
|
Genes Chromosomes Cancer 45: 602-607, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16518846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16518846</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16518846" 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.20323" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Ho1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ho, A. D., Feurle, G., Gless, K.-H., Brandeis, W. E.
|
|
<strong>Normotensive familial phaeochromocytoma with predominant noradrenaline secretion.</strong>
|
|
Brit. Med. J. 1: 81-82, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/620210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">620210</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=620210" 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/bmj.1.6105.81-a" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Hradec1961" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hradec, E., Maratka, Z., Paleckrova, M.
|
|
<strong>Le pheochromocytome avec caractere familial.</strong>
|
|
J. Chir. (Paris) 81: 479-486, 1961.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13716312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13716312</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13716312" 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="27" class="mim-anchor"></a>
|
|
<a id="Kaufman1979" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kaufman, J. J., Franklin, S.
|
|
<strong>Familial pheochromocytoma: a report of 2 cases in a kindred.</strong>
|
|
J. Urol. 121: 801-804, 1979.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/458955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">458955</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=458955" 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/s0022-5347(17)56999-2" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Khosla1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Khosla, S., Patel, V. M., Hay, I. D., Schaid, D. J., Grant, C. S., van Heerden, J. A., Thibodeau, S. N.
|
|
<strong>Loss of heterozygosity suggests multiple genetic alterations in pheochromocytomas and medullary thyroid carcinomas.</strong>
|
|
J. Clin. Invest. 87: 1691-1699, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2022740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2022740</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2022740" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI115186" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Knudson1972" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Knudson, A. G., Jr., Strong, L. C.
|
|
<strong>Mutation and cancer: neuroblastoma and pheochromocytoma.</strong>
|
|
Am. J. Hum. Genet. 24: 514-532, 1972.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4340974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4340974</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4340974" 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="30" class="mim-anchor"></a>
|
|
<a id="Maher2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Maher, E. R., Eng, C.
|
|
<strong>The pressure rises: update on the genetics of phaeochromocytoma.</strong>
|
|
Hum. Molec. Genet. 11: 2347-2354, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12351569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12351569</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12351569" 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/11.20.2347" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Manger2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Manger, W. M.
|
|
<strong>An overview of pheochromocytoma: history, current concepts, vagaries, and diagnostic challenges.</strong>
|
|
Ann. N.Y. Acad. Sci. 1073: 1-20, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17102067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17102067</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17102067" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1196/annals.1353.001" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Melicow1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Melicow, M. M.
|
|
<strong>One hundred cases of pheochromocytoma (107 tumors) at the Columbia-Presbyterian Medical Center, 1926-1976: a clinicopathological analysis.</strong>
|
|
Cancer 40: 1987-2004, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/922654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">922654</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=922654" 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(197711)40:5<1987::aid-cncr2820400502>3.0.co;2-r" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Moley1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Moley, J. F., Brother, M. B., Fong, C. T., White, P. S., Baylin, S. B., Nelkin, B., Wells, S. A., Brodeur, G. M.
|
|
<strong>Consistent association of 1p loss of heterozygosity with pheochromocytomas from patients with multiple endocrine neoplasia type 2 syndromes.</strong>
|
|
Cancer Res. 52: 770-774, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1346584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1346584</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1346584" 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="34" class="mim-anchor"></a>
|
|
<a id="Neumann2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Neumann, H. P. H., Bausch, B., McWhinney, S. R., Bender, B. U., Gimm, O., Franke, G., Schipper, J., Klisch, J., Altehoefer, C., Zerres, K., Januszewicz, A., Eng, C.
|
|
<strong>Germ-line mutations in nonsyndromic pheochromocytoma.</strong>
|
|
New Eng. J. Med. 346: 1459-1466, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12000816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12000816</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12000816" 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/NEJMoa020152" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Neumann1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Neumann, H. P. H., Berger, D. P., Sigmund, G., Blum, U., Schmidt, D., Parmer, R. J., Volk, B., Kirste, G.
|
|
<strong>Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease.</strong>
|
|
New Eng. J. Med. 329: 1531-1538, 1993. Note: Erratum: New Eng. J. Med. 331: 1535 only, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8105382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8105382</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8105382" 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/NEJM199311183292103" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="Neumann2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Neumann, H. P. H., Reincke, M., Eng, C.
|
|
<strong>Case 13-2001: genetic testing in pheochromocytoma. (Letter)</strong>
|
|
New. Eng. J. Med. 345: 547 only, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11519521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11519521</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11519521" 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="37" class="mim-anchor"></a>
|
|
<a id="Neumann2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Neumann, H. P. H., Vortmeyer, A., Schmidt, D., Werner, M., Erlic, Z., Cascon, A., Bausch, B., Januszewicz, A., Eng, C.
|
|
<strong>Evidence of MEN-2 in the original description of classic pheochromocytoma.</strong>
|
|
New Eng. J. Med. 357: 1311-1315, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17898100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17898100</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17898100" 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/NEJMoa071407" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="38" class="mim-anchor"></a>
|
|
<a id="Ohno1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ohno, F., Yamano, T., Kataoka, K.
|
|
<strong>A case of congenital aniridia and familial pheochromocytoma--with special reference to aniridia-Wilms' tumor syndrome.</strong>
|
|
Jpn. J. Hum. Genet. 27: 335-340, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6306309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6306309</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6306309" 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/BF01900445" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="39" class="mim-anchor"></a>
|
|
<a id="Pacak2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pacak, K., Goldstein, D. S., Doppman, J. L., Shulkin, B. L., Udelsman, R., Eisenhofer, G.
|
|
<strong>A 'pheo' lurks: novel approaches for locating occult pheochromocytoma.</strong>
|
|
J. Clin. Endocr. Metab. 86: 3641-3646, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11502790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11502790</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11502790" 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/jcem.86.8.7714" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="40" class="mim-anchor"></a>
|
|
<a id="Pearse1969" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pearse, A. G. E.
|
|
<strong>The cytochemistry and ultrastructure of polypeptide hormone-producing cells of the APUD series and the embryologic, physiologic, and pathologic implications of the concept.</strong>
|
|
J. Histochem. Cytochem. 17: 303-313, 1969.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4143745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4143745</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4143745" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1177/17.5.303" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="41" class="mim-anchor"></a>
|
|
<a id="Pillai2016" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pillai, S., Gopalan, V., Smith, R. A., Lam, A. K.
|
|
<strong>Updates on the genetics and the clinical impacts on phaeochromocytoma and paraganglioma in the new era.</strong>
|
|
Crit. Rev. Oncol. Hemat. 100: 190-208, 2016.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26839173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26839173</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26839173" 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/j.critrevonc.2016.01.022" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="42" class="mim-anchor"></a>
|
|
<a id="Qin2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Qin, Y., Yao, L, King, E. E., Buddavarapu, K., Lenci, R. E., Chocron, E. S., Lechleiter, J. D., Sass, M., Aronin, N., Schiavi, F., Boaretto, F., Opocher, G., Toledo, R. A., Toledo, S. P. A., Stiles, C., Aguiar, R. C. T., Dahia, P. L. M.
|
|
<strong>Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. (Letter)</strong>
|
|
Nature Genet. 42: 229-233, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20154675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20154675</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20154675[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=20154675" 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/ng.533" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="43" class="mim-anchor"></a>
|
|
<a id="Sawka2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sawka, A. M., Jaeschke, R., Singh, R. J., Young, W. F., Jr.
|
|
<strong>A comparison of biochemical tests for pheochromocytoma: measurement of fractionated plasma metanephrines compared with the combination of 24-hour urinary metanephrines and catecholamines.</strong>
|
|
J. Clin. Endocr. Metab. 88: 553-558, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12574179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12574179</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12574179" 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.2002-021251" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="44" class="mim-anchor"></a>
|
|
<a id="Schimke2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schimke, R. N., Collins, D. L., Stolle, C. A.
|
|
<strong>Paraganglioma, neuroblastoma, and a SDHB mutation: resolution of a 30-year-old mystery.</strong>
|
|
Am. J. Med. Genet. 152A: 1531-1535, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20503330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20503330</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20503330" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.a.33384" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="45" class="mim-anchor"></a>
|
|
<a id="Schlisio2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schlisio, S., Kenchappa, R. S., Vredeveld, L. C. W., George, R. E., Stewart, R., Greulich, H., Shahriari, K., Nguyen, N. V., Pigny, P., Dahia, P. L., Pomeroy, S. L., Maris, J. M., Look, A. T., Meyerson, M., Peeper, D. S., Carter, B. D., Kaelin, W. G., Jr.
|
|
<strong>The kinesin KIF1B-beta (sic) acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor.</strong>
|
|
Genes Dev. 22: 884-893, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18334619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18334619</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18334619[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=18334619" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1101/gad.1648608" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="46" class="mim-anchor"></a>
|
|
<a id="Strunge1972" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Strunge, P., Ingstrup, H. M., Lochte, J. J., Zimmermann-Nielsen, C.
|
|
<strong>Bilateral phaeochromocytoma in two brothers.</strong>
|
|
Acta Paediat. Scand. 61: 729-732, 1972.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4404154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4404154</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4404154" 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.1651-2227.1972.tb15977.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="47" class="mim-anchor"></a>
|
|
<a id="Swinton1972" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Swinton, N. W., Clerkin, E. P., Flint, L. D.
|
|
<strong>Hypercalcemia and familial pheochromocytoma: correction after adrenalectomy.</strong>
|
|
Ann. Intern. Med. 76: 455-457, 1972.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5015920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5015920</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5015920" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.7326/0003-4819-76-3-455" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="48" class="mim-anchor"></a>
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<a id="Toledo2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Toledo, S. P. A., Lourenco, D. M., Jr., Sekiya, T., Lucon, A. M., Baena, M. E. S., Castro, C. C., Bortolotto, L. A., Zerbini, M. C. N., Siqueira, S. A. C., Toledo, R. A., Dahia, P. L. M.
|
|
<strong>Penetrance and clinical features of pheochromocytoma in a six-generation family carrying a germline TMEM127 mutation.</strong>
|
|
J. Clin. Endocr. Metab. 100: E308-E318, 2015. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25389632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25389632</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25389632" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1210/jc.2014-2473" target="_blank">Full Text</a>]
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<li>
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<a id="49" class="mim-anchor"></a>
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<a id="van der Harst1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van der Harst, E., de Krijger, R. R., Dinjens, W. N. M., Weeks, L. E., Bonjer, H. J., Bruining, H. A., Lamberts, S. W. J., Koper, J. W.
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|
<strong>Germline mutations in the VHL gene in patients presenting with phaeochromocytomas.</strong>
|
|
Int. J. Cancer. 77: 337-340, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9663592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9663592</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9663592" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(sici)1097-0215(19980729)77:3<337::aid-ijc5>3.0.co;2-p" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="50" class="mim-anchor"></a>
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<a id="Von Doepp1962" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Von Doepp, C. E.
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<strong>Das Phaeochromocytom als dominant vererbbare dysgenetische Geschwulst.</strong>
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Virchows Arch. Path. Anat. Physiol. Klin. Med 335: 231-239, 1962.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13886916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13886916</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13886916" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<li>
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<a id="51" class="mim-anchor"></a>
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<a id="Welander2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Welander, J., Larsson, C., Backdahl, M., Hareni, N., Sivler, T., Brauckhoff, M., Soderkvist, P., Gimm, O.
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<strong>Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas.</strong>
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Hum. Molec. Genet. 21: 5406-5416, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23010473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23010473</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23010473" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/dds402" target="_blank">Full Text</a>]
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<li>
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<a id="52" class="mim-anchor"></a>
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<a id="Woodward1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Woodward, E. R., Eng, C., McMahon, R., Voutilainen, R., Affara, N. A., Ponder, B. A. J., Maher, E. R.
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<strong>Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.</strong>
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Hum. Molec. Genet. 6: 1051-1056, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215674</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9215674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/6.7.1051" target="_blank">Full Text</a>]
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</ol>
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<br />
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini - updated : 08/13/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<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">
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<span class="mim-text-font">
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Ada Hamosh - updated : 01/16/2020<br>Cassandra L. Kniffin - updated : 11/14/2013<br>Cassandra L. Kniffin - updated : 8/8/2011<br>Cassandra L. Kniffin - updated : 11/30/2010<br>Cassandra L. Kniffin - updated : 5/14/2010<br>John A. Phillips, III - updated : 5/11/2009<br>Victor A. McKusick - updated : 10/16/2007<br>Cassandra L. Kniffin - updated : 9/5/2006<br>Cassandra L. Kniffin - reorganized : 1/12/2006<br>Cassandra L. Kniffin - updated : 1/6/2006<br>Victor A. McKusick - updated : 12/19/2005<br>George E. Tiller - updated : 12/2/2003<br>John A. Phillips, III - updated : 10/3/2003<br>Michael B. Petersen - updated : 6/23/2003<br>Victor A. McKusick - updated : 6/5/2002<br>John A. Phillips, III - updated : 2/19/2002<br>Victor A. McKusick - updated : 10/9/2001<br>Victor A. McKusick - updated : 9/28/2001<br>Victor A. McKusick - updated : 9/4/2001<br>Victor A. McKusick - updated : 7/13/1999<br>Victor A. McKusick - updated : 8/24/1998<br>Victor A. McKusick - updated : 2/20/1998<br>Victor A. McKusick - updated : 8/15/1997
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</span>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 01/21/2025
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<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">
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<span class="mim-text-font">
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carol : 10/17/2023<br>carol : 05/01/2023<br>carol : 04/28/2023<br>carol : 03/02/2022<br>carol : 03/01/2022<br>carol : 08/13/2021<br>alopez : 01/16/2020<br>carol : 08/07/2019<br>alopez : 08/06/2019<br>joanna : 07/26/2016<br>carol : 06/24/2016<br>carol : 7/14/2014<br>ckniffin : 7/14/2014<br>carol : 11/25/2013<br>mcolton : 11/25/2013<br>ckniffin : 11/14/2013<br>carol : 4/22/2013<br>wwang : 8/15/2011<br>ckniffin : 8/8/2011<br>wwang : 5/23/2011<br>wwang : 12/1/2010<br>ckniffin : 11/30/2010<br>terry : 10/14/2010<br>carol : 10/14/2010<br>terry : 10/14/2010<br>wwang : 5/21/2010<br>ckniffin : 5/14/2010<br>ckniffin : 11/17/2009<br>terry : 6/3/2009<br>alopez : 5/11/2009<br>wwang : 7/8/2008<br>carol : 11/8/2007<br>alopez : 10/26/2007<br>terry : 10/16/2007<br>wwang : 10/2/2006<br>ckniffin : 9/5/2006<br>wwang : 8/18/2006<br>carol : 1/12/2006<br>ckniffin : 1/11/2006<br>ckniffin : 1/6/2006<br>terry : 12/19/2005<br>ckniffin : 3/23/2004<br>mgross : 12/2/2003<br>alopez : 10/3/2003<br>cwells : 6/23/2003<br>alopez : 6/12/2002<br>terry : 6/5/2002<br>alopez : 2/19/2002<br>carol : 10/9/2001<br>carol : 10/9/2001<br>mcapotos : 10/9/2001<br>mcapotos : 10/9/2001<br>mcapotos : 9/28/2001<br>terry : 9/4/2001<br>jlewis : 7/20/1999<br>jlewis : 7/15/1999<br>terry : 7/13/1999<br>carol : 8/25/1998<br>terry : 8/24/1998<br>alopez : 2/26/1998<br>alopez : 2/20/1998<br>terry : 2/20/1998<br>mark : 8/19/1997<br>jenny : 8/19/1997<br>terry : 8/15/1997<br>joanna : 6/23/1997<br>mark : 2/26/1997<br>jamie : 1/21/1997<br>terry : 1/15/1997<br>terry : 10/10/1996<br>mark : 2/6/1996<br>terry : 2/6/1996<br>mark : 1/30/1996<br>terry : 1/24/1996<br>mark : 1/20/1996<br>mark : 1/19/1996<br>mimadm : 1/14/1995<br>terry : 7/15/1994<br>carol : 12/9/1993<br>carol : 11/15/1993<br>carol : 4/14/1993<br>carol : 11/20/1992
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 171300
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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PHEOCHROMOCYTOMA
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</h3>
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</div>
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<div>
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<br />
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
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</span>
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</h4>
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</div>
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<div>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 29072;
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<strong>DO:</strong> 0050771;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
|
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Phenotype <br /> MIM number
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</th>
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<th>
|
|
Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
|
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Gene/Locus
|
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</th>
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<th>
|
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Gene/Locus <br /> MIM number
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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|
2q11.2
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
{Pheochromocytoma, susceptibility to}
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
171300
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Autosomal dominant
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
TMEM127
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
613403
|
|
</span>
|
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</td>
|
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
|
3p25.3
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Pheochromocytoma
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
171300
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
VHL
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
608537
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
10q11.21
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Pheochromocytoma
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
171300
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
RET
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
|
|
164761
|
|
</span>
|
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</td>
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
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14q23.3
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<span class="mim-font">
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{Pheochromocytoma, susceptibility to}
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<span class="mim-font">
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171300
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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<span class="mim-font">
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MAX
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<span class="mim-font">
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154950
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because susceptibility to the development of isolated pheochromocytoma can be caused by heterozygous germline mutation in several genes, including the TMEM127 gene (613403) on chromosome 2q11 and the MAX gene (154950) on chromosome 14q23.</p><p>Pheochromocytomas most commonly occur as part of several syndromes, and mutations in the genes that cause these syndromes have been identified in patients who manifest only pheochromocytoma. These include von Hippel-Lindau syndrome (VHL; 193300), caused by mutation in the VHL gene (608537), and multiple endocrine neoplasia types IIA (MEN2A; 171400) and IIB (MEN2B; 162300), which are caused by mutations in the RET gene (164761). Pheochromocytomas have less commonly been observed in neurofibromatosis I (NF1; 162200), which is caused by mutation in the gene encoding neurofibromin-1 (613113).</p><p>For a discussion of heterogeneity of pheochromocytoma/paraganglioma syndrome, see PPGL1 (168000).</p><p>In addition, somatic mutation in several of the genes involved in familial disease, including NF1, VHL, RET, and MAX, have been identified in tumor tissue from patients with sporadic pheochromocytoma (Welander et al., 2012; Burnichon et al., 2012). </p><p>For associations pending confirmation, see MOLECULAR GENETICS.</p>
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<strong>Description</strong>
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<p>Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002). </p><p>Bolande (1974) introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.</p><p>Knudson and Strong (1972) applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in 180200) and concluded that it fits. </p><p>Maher and Eng (2002) reviewed the clinical entities and genes associated with pheochromocytoma. </p>
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<strong>Clinical Features</strong>
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<p>Familial pheochromocytoma was first reported by Calkins and Howard (1947). </p><p>Hadorn (1963) reported a German family in which 3 sibs had adrenal tumors consistent with pheochromocytomas. A brother and sister suffered from tachycardia, sweating, hypertension, and albuminuria. The sister had advanced hypertensive retinopathy and the brother had congestive heart failure. At autopsy, the sister showed cerebral hemorrhage and bilateral adrenocortical tumors. A surviving sib developed similar symptoms. The Regitine test was strongly positive, the urine contained large amounts of norepinephrine, and pneumoperitoneum demonstrated an enlarged right adrenal which contained adrenal and paraganglion tissue. </p><p>Engelman et al. (1968) noted that familial pheochromocytoma is usually bilateral and the patients are likely to show resistance to the vasopressor effects of tyramine. </p><p>Swinton et al. (1972) reported a family in which 4 members, including a father and son, had pheochromocytomas. They pointed out that associated hypercalcemia may be due to secretion of a calcitonin-like substance; hypercalcemia could be corrected by adrenalectomy. </p><p>Kaufman and Franklin (1979) reported a family with 7 documented and other possible cases of pheochromocytoma. </p><p>Ohno et al. (1982) observed pheochromocytoma in 2 sisters whose father also had pheochromocytoma. One of the sisters had aniridia and her pheochromocytoma was malignant. </p><p>Toledo et al. (2015) followed 11 individuals with pheochromocytoma from a 6-generation family. The median age at diagnosis was 43 years. Two patients were asymptomatic, and 9 had symptoms starting on average at age 29 (range 10-55 years). Tumors were multicentric in 5 and bilateral in 5 patients. Over half had at least 1 adrenomedullary nodule less than 10 mm. No paragangliomas, distant metastases, or other manifestations were reported. </p>
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<strong>Mapping</strong>
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<p>In 34 sporadic and 7 familial instances of pheochromocytoma, Khosla et al. (1991) found evidence of loss of heterozygosity (LOH) at multiple sites: 1p in 42%, 3p in 16%, 17p in 24%, and 22q in 31%. They also noted a correlation between LOH on 1p and urinary excretion of metanephrine by these patients (p = 0.02). LOH on 1p, 3p, and 17p also appeared to be associated with increased tumor volume. They suggested that tumor formation and/or progression in pheochromocytoma might involve multiple genes, analogous with the model proposed for colon carcinoma (Fearon and Vogelstein, 1990). The findings of Moley et al. (1992) suggested that LOH on 1p is particularly frequent in pheochromocytoma, being found by them in all 9 pheochromocytomas in MEN2A and MEN2B, in 2 of 7 sporadic pheochromocytomas, and in 1 of 2 pheochromocytomas in von Hippel-Lindau patients. </p><p><strong><em>Linkage to Chromosome 2q11</em></strong></p><p>
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Dahia et al. (2005) reported a family of Brazilian-Portuguese descent in which 6 sibs had pheochromocytoma. Multipoint parametric linkage analysis revealed identical lod scores of 2.97 for chromosome 2cen and 16p13 loci. A 2-locus parametric linkage analysis produced a maximum lod score of 5.16 under a double-recessive multiplicative model, suggesting that both loci are required to develop the disease. Allele-specific LOH was detected only at the chromosome 2 locus in all tumors from this family, consistent with a tumor suppressing gene. High density LOH mapping with SNP-based array identified a total of 18 of 62 unrelated pheochromocytomas with LOH within the chromosome 2 region, which further narrowed down the locus to less than 2 cM. Dahia et al. (2005) interpreted their results as consistent with double-recessive digenic inheritance being responsible for the disease phenotype in this family. Qin et al. (2010) provided follow-up of the family reported by Dahia et al. (2005), and reported another affected individual. Reanalysis indicated that transmission pattern was consistent with autosomal dominant inheritance with reduced penetrance. The identification of more affected families allowed refinement of linkage to a 19.62-Mb region on chromosome 2q11. </p>
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<strong>Diagnosis</strong>
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<p>Among a total of 130 patients with 185 pheochromocytomas, Neumann et al. (1993) determined that 43 had von Hippel-Lindau disease, 24 had MEN2, and 63 had sporadic tumors. The patients with familial pheochromocytoma were younger, had multifocal localization much more often, and had cancer more frequently; however, the frequency of extraadrenal tumors was lower in the familial cases. Pheochromocytoma was the only clinical manifestation of their syndrome in 38% of carriers of von Hippel-Lindau disease and 24% of carriers of MEN2. Neumann et al. (1993) concluded that all patients with pheochromocytoma should be screened for MEN2 and von Hippel-Lindau disease, and that all patients in families with MEN2 or von Hippel-Lindau disease should be screened for pheochromocytoma, even if they are asymptomatic. </p><p>Eisenhofer et al. (1999) found that measurements of plasma normetanephrine and metanephrine were useful in screening for pheochromocytoma in patients with a familial disposition to these tumors. Both a high sensitivity (97%) and a high specificity (96%) were found. (Normetanephrine and metanephrine are the respective O-methylated metabolites of norepinephrine and epinephrine.) </p><p>Pacak et al. (2001) reported 2 novel approaches for localization of pheochromocytoma in a patient in whom conventional imaging modalities failed to show the tumor. First, they showed that measurements of plasma free metanephrines coupled with vena caval sampling were useful for localizing occult pheochromocytoma. Second, they showed that positron emission tomographic scanning using the imaging agent 6-[18F]fluorodopamine as a substrate for the norepinephrine transporter offered a highly effective method for tumor localization. The authors concluded that these novel approaches may be of value in difficult cases, in which biochemical and clinical evidence of pheochromocytoma is compelling, yet conventional imaging modalities fail to locate the tumor. </p><p>Sawka et al. (2003) compared the diagnostic efficacy of fractionated plasma metanephrine measurements to measurements of 24-hour urinary total metanephrines and catecholamines in outpatients tested for pheochromocytoma at Mayo Clinic Rochester. The sensitivity of fractionated plasma metanephrines was 97% compared with a sensitivity of 90% for urinary total metanephrines and catecholamines (p = 0.63). The specificity of fractionated plasma metanephrines was 85% compared with 98% for urinary measurements. An adrenal pheochromocytoma was missed by urinary testing in 2 patients with familial syndromes and 1 asymptomatic patient with an incidentally discovered adrenal mass. An extraadrenal paraganglioma was missed by plasma testing in 1 patient. The authors concluded that measurements of 24-hour urinary total metanephrines and catecholamines yield fewer false-positive results, an attribute preferred for testing low-risk patients, but that fractionated plasma metanephrine measurements may be preferred in high-risk patients with familial endocrine syndromes. </p><p>Tests of plasma fractionated metanephrines levels, on which the initial diagnosis of pheochromocytoma relies, have a high false positive rate due to the disease's rarity. After a study to evaluate 3 approaches to distinguish between true-positive and false-positive tests, Algeciras-Schimnich et al. (2008) recommended that unless plasma fractionated metanephrines levels are elevated more than 4-fold above the upper limit of normal, patients with a positive plasma fractionated metanephrines test should be evaluated with urine fractionated metanephrines and serum/plasma CGA assays before being subjected to imaging or invasive diagnostic tests. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>Neumann et al. (2001) stated that germline mutations in the VHL gene and in the SDHD gene together account for 15 to 20% of all nonfamilial presentations of pheochromocytoma. Neumann et al. (2002) identified germline mutations in 66 (24%) of 271 patients who presented with nonsyndromic pheochromocytoma and without a family history of disease. Eleven patients (4%) had 7 different germline mutations in the SDHD gene (see, e.g., 602690.0002; 602690.0004; 602690.0025; 602690.0026). Twelve patients (4%) had 9 different germline mutations in the SDHB gene (see, e.g., 185470.0004-185470.0006; 185470.0008; 185470.0009). Thirteen patients (5%) had 7 different germline mutations in the RET gene (see, e.g., 164761.0003-164761.0006; 164761.0011; 164761.0012; 164761.0034). Thirty patients (11%) had 22 different mutations in the VHL gene (see, e.g., 608537.0003; 608537.0014; 608537.0026). Clinically, the presence of a germline mutation was associated with younger age, multifocal tumors, and extraadrenal tumors. However, among the 66 patients who were positive for mutations, only 21 had multifocal pheochromocytoma. In 23 (35%), the tumor presented after the age of 30 years, and in 17 (8%) after the age of 40. Neumann et al. (2002) concluded that since almost one-fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations, routine analysis for mutations in the 4 genes studied is indicated to identify pheochromocytoma-associated syndromes that would otherwise be missed. Sixty-one (92%) of the 66 patients had no associated signs and symptoms of a syndrome at the time of presentation. </p><p><strong><em>Mutation in the VHL Gene</em></strong></p><p>
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In affected members of 2 unrelated kindreds with pheochromocytoma with no clinical evidence of VHL disease, Crossey et al. (1995) identified 2 missense mutations in the VHL gene (V84L; 608537.0025 and R238W; 608537.0003). </p><p>In 4 of 48 sporadic pheochromocytomas, Eng et al. (1995) identified mutations in the VHL gene. Two mutations were somatic and 2 were germline. </p><p>Woodward et al. (1997) identified germline missense mutations in the VHL gene in 3 of 8 kindreds with familial pheochromocytoma. A germline VHL mutation was also characterized in 1 of 2 patients with bilateral pheochromocytoma. No mutations were identified in the VHL or RET genes in 6 patients with multiple extraadrenal pheochromocytoma or adrenal pheochromocytoma with a family history of neuroectodermal tumors. </p><p>Brauch et al. (1997) found VHL mutations in 2 (3%) of 62 German patients with pheochromocytoma without a history of hereditary disease; No mutations were detected in the RET gene. Bar et al. (1997) found that 1 of 27 sporadic patients with pheochromocytoma had a VHL germline mutation; none had a RET mutation. Both groups concluded that sporadic pheochromocytomas are rarely associated with germline mutations in either of these genes. </p><p>Van der Harst et al. (1998) identified a mutation in the VHL gene (R64P; 608537.0015) in an uncle and his nephew with pheochromocytoma. Mutations in the VHL gene were identified in 4 other unrelated patients with pheochromocytomas (see, e.g., L63P, 608537.0016). In total, 6 (8.8%) of 68 patients with pheochromocytomas had germline mutations in the VHL gene. </p><p>Using comparative genomic hybridization, Hering et al. (2006) found that 10 (72%) of 14 pediatric pheochromocytoma tumors had a combinatorial loss of chromatin from chromosome 3p and 11p, resulting from either a total loss of chromosomes 3 and 11 (6 patients) or confined deletions of the 3p and 11p arms (4 patients). All of these patients had mutations in the VHL gene. The findings suggested that mutations in the VHL gene select for combinatorial deletions of 3p and 11p. Of the 4 remaining patients, 2 had familial syndromes (NF1 and PGL1, respectively) and 2 had unknown etiology. Hering et al. (2006) concluded that true sporadic pheochromocytoma is rare in childhood and that affected children should be screened for a predisposing gene. </p><p><strong><em>Mutation in the RET Gene</em></strong></p><p>
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In 5 of 48 apparently sporadic pheochromocytomas, Eng et al. (1995) identified mutations in the RET gene. Of these, 1 was a germline mutation (C634G; 164761.0003) and another was a somatic mutation (M918T; 164761.0013). </p><p><strong><em>Mutation in the SDHD Gene</em></strong></p><p>
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In tumor tissue from a patient with sporadic pheochromocytoma, Gimm et al. (2000) identified a mutation in the SDHD gene (P81L; 602690.0003). Flanking markers also showed loss of heterozygosity. </p><p><strong><em>Mutation in the TMEM127 Gene</em></strong></p><p>
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Qin et al. (2010) identified 7 different heterozygous mutations in the TMEM127 gene (see, e.g., 613403.0001-613403.0004) in 7 unrelated probands with pheochromocytoma. Six of the mutations were truncating mutations, consistent with a loss of function. All tumors examined showed loss of heterozygosity at the TMEM127 locus, suggesting a classic mechanism of the 2-hit model of tumor suppressor inactivation. Four of the probands had a family history of pheochromocytoma. The average age of onset was 45.3 years, all tumors arose from the adrenal medulla, and they were bilateral in about half of cases. Overall, mutations were found in about 30% of familial cases and 3% of sporadic cases. Microarray-based expression profiling showed that the transcription signature of TMEM127-mutant tumors was increased in kinase receptor signals, similar to pheochromocytomas due to NF1 (162200) and RET (164761) mutations. This was in contrast to the expression profiles of pheochromocytomas with mutations in the VHL (608537), SDHB (185470) or SDHD (602690) genes, which were uniquely enriched in transcripts involved in response to hypoxia. </p><p><strong><em>Mutation in the MAX Gene</em></strong></p><p>
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Using exome sequencing in 3 unrelated families with bilateral pheochromocytoma, Comino-Mendez et al. (2011) identified 3 different heterozygous germline mutations in the MAX gene (154950.0001-154950.0003) that segregated with the disease. A follow-up study of 59 patients with pheochromocytoma identified 5 additional mutations (see, e.g., 154950.0004-154950.0005). Studies of tumor tissue showed a lack of full-length MAX protein and loss of heterozygosity (LOH) of the MAX allele, which resulted from paternal uniparental disomy (UPD) and loss of the maternal allele. This LOH constituted the somatic second-hit of the Knudson hypothesis. The paternal origin of the mutated allele detected in 6 families suggested preferential paternal transmission of the disease (p = 0.031). In addition, 2 children who inherited the mutation from their mother and 2 obligate carriers from another family did not develop tumors, further supporting this theory. Eight of 12 cases had bilateral tumors, and 3 of 8 probands had metastases at diagnosis. Overall, the findings indicated that MAX acts as a classic tumor suppressor gene. </p><p><strong><em>Somatic Mutations</em></strong></p><p>
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Using genomewide copy number analysis to study several genes known to be associated with pheochromocytomas, Welander et al. (2012) found that 35 (83%) of 42 samples had an altered copy number of at least 1 of the genes involved in familial pheochromocytoma. Eleven (26%) of the tumors had loss of 1 copy of NF1, and sequencing showed that 10 of the 11 carried a somatic truncating mutation in the NF1 gene. Loss of NF1 was associated with low mRNA expression in the tumors. Most tumors displayed loss of the normal allele, but in 2 cases there was no sign of loss of heterozygosity, although mRNA expression was clearly reduced. Frequent copy number variation in sporadic tumors was also observed for the VHL, SDHD, SDHAF2, and KIF1B genes. The findings suggested that the NF1 gene constitutes a common target of somatic mutations in sporadic pheochromocytomas. </p><p>By direct sequencing of the NF1 gene, Burnichon et al. (2012) identified a somatic inactivating NF1 mutation in 25 (41%) of 61 pheochromocytomas, which was associated with loss of the wildtype allele in 21 (84%) of the 25 cases. Gene expression signature of NF1-related tumors highlighted the downregulation of NF1 and the major overexpression of SOX9 (608160). Among a second set of 11 tumors, 2 sporadic tumors carried somatic mutations in NF1 as well as in another susceptibility gene. These findings suggested that NF1 loss of function is a frequent event in the tumorigenesis of sporadic pheochromocytoma. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between pheochromocytoma and variation in the SDHAF2 gene, see 613019.0002.</p><p>In 1 of 28 sporadic pheochromocytomas, Woodward et al. (1997) identified a mutation in the GDNF gene (R93W; 600837.0001), which is a natural ligand for RET. The mutation was present in both germline and tumor tissue. The authors suggested that the mutation could function as a susceptibility mutation for PCC of low penetrance. However, Dahia et al. (1997) identified no pathogenic mutations in GDNF in 22 sporadic PCC tissues by semiquantitative PCR. Thus, GDNF allelic variants may influence the susceptibility of a patient to PCC but only small cohorts of PCC have been studied (Pillai et al., 2016). </p>
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<strong>History</strong>
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<p>The first description of pheochromocytoma is attributed to Felix Frankel (Manger, 2006). The 1886 publication described an 18-year-old woman named Minna Roll, a resident of Wittenweier (near the country town of Lahr) in Germany, who had died in 1884 (Frankel, 1886). She was treated and died at the University Hospital of Freiburg. At autopsy, bilateral adrenal tumors were found. The patient had paroxysms of palpitations, dizziness, headache, and reduction of visual acuity. Signs of hypertension included classic features of stage IV hypertensive retinopathy on retinal examination. Frankel and his colleagues in pathology reported what they called bilateral adrenal sarcoma and angiosarcoma. Remarkably, Frankel considered that abnormal quantities of a substance normally present in the blood might be released in an unregulated manner to the circulation, resulting in 'irritation' of the blood vessels and parenchyma of other organs. Thus, he postulated the endocrine nature and function of the adrenal medulla. Living relatives of Minna Roll were identified in the Black Forest region. Three of them were found to have pheochromocytoma plus medullary thyroid carcinoma, 3 others had pheochromocytoma, and 1 had isolated medullary thyroid carcinoma. In a grandnephew of the proband, a cys634-to-trp missense mutation of the RET gene (164761.0053) was found. In the gross autopsy, a 'goiter' was described in the proband's thyroid, which was not histologically pursued. Given the medullary thyroid carcinoma and pheochromocytoma in this family and the RET mutation, the patient clearly had multiple endocrine neoplasia type 2 (171400). </p><p>Fairchild et al. (1979) described a 29-year-old woman who had neuroblastoma (256700) during infancy, developed an extraadrenal pheochromocytoma at age 16 years, with subsequent hepatic recurrence, and was found to have multifocal renal cell carcinoma (144700). Although renal cell carcinoma and pheochromocytoma are combined in the von Hippel-Lindau syndrome, there was no other evidence for VHL in this patient. Schimke et al. (2010) reported 2 sibs of the patient reported by Fairchild et al. (1979) who developed paraspinal paragangliomas in adulthood, and a cousin of these sibs who died of metastatic renal cell carcinoma and had a history of a benign paraaortic PGL. Genetic analysis identified a heterozygous mutation in the SDHB gene (V140F; 185470.0016), consistent with paragangliomas-4 (PGL4; 115310). There were 2 unaffected family members, suggesting decreased penetrance or a 'leaky' mutation. Schimke et al. (2010) noted the importance of family history in elucidating the etiology of this inherited disorder. </p><p>In a family in which pheochromocytomas were reported to be caused by a variant in the KIF1B gene (see 605995.0005) by Schlisio et al. (2008), a follow-up study of the family by Cardot Bauters et al. (2020) concluded that the pheochromocytomas were caused by a variant in the MAX gene. </p>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Carman and Brashear (1960); Cook et al. (1960); Dunn et al. (1976);
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Ho et al. (1978); Hradec et al. (1961); Melicow (1977); Neumann et
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al. (2007); Pearse (1969); Strunge et al. (1972); Von Doepp (1962)
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<strong>REFERENCES</strong>
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<p class="mim-text-font">
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Algeciras-Schimnich, A., Preissner, C. M., Young, W. F., Jr., Singh, R. J., Grebe, S. K. G.
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<strong>Plasma chromogranin A or urine fractionated metanephrines follow-up testing improves the diagnostic accuracy of plasma fractionated metanephrines for pheochromocytoma.</strong>
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J. Clin. Endocr. Metab. 93: 91-95, 2008.
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[PubMed: 17940110]
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[Full Text: https://doi.org/10.1210/jc.2007-1354]
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Bar, M., Friedman, E., Jakobovitz, O., Leibowitz, G., Lerer, I., Abeliovich, D., Gross, D. J.
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<strong>Sporadic phaeochromocytomas are rarely associated with germline mutations in the von Hippel-Lindau and RET genes.</strong>
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Clin. Endocr. 47: 707-712, 1997.
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[PubMed: 9497878]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1046/j.1365-2265.1997.3251150.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bolande, R. P.
|
|
<strong>The neurocristopathies: a unifying concept of disease arising in neural crest maldevelopment.</strong>
|
|
Hum. Path. 5: 409-429, 1974.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Brauch, H., Hoeppner, W., Jahnig, H., Wohl, T., Engelhardt, D., Spelsberg, F., Ritter, M. M.
|
|
<strong>Sporadic pheochromocytomas are rarely associated with germline mutations in the VHL tumor suppressor gene or the RET protooncogene.</strong>
|
|
J. Clin. Endocr. Metab. 82: 4101-4104, 1997.
|
|
|
|
|
|
[PubMed: 9398721]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jcem.82.12.4454]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Burnichon, N., Buffet, A., Parfait, B., Letouze, E., Laurendeau, I., Loriot, C., Pasmant, E., Abermil, N., Valeyrie-Allanore, L., Bertherat, J., Amar, L., Vidaud, D., Favier, J., Gimenez-Roqueplo, A.-P.
|
|
<strong>Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.</strong>
|
|
Hum. Molec. Genet. 21: 5397-5405, 2012.
|
|
|
|
|
|
[PubMed: 22962301]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/dds374]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Calkins, E., Howard, J. E.
|
|
<strong>Bilateral familial pheochromocytoma with paroxysmal hypertension: successful surgical removal of tumors in 2 cases, with discussion of certain diagnostic and physiological considerations.</strong>
|
|
J. Clin. Endocr. 7: 475-492, 1947.
|
|
|
|
|
|
[PubMed: 20260947]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jcem-7-7-475]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cardot Bauters, C., Leteurtre, E., Carnaille, B., Do Cao, C., Espiard, S., Penven, M., Destailleur, E., Szuster, I., Lovecchio, T., Leclerc, J., Frenois, F., Esquivel, E., Dahia, P. L. M., Ait-Yahya, E., Crepin, M., Pigny, P.
|
|
<strong>Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B.</strong>
|
|
Endocr. Connect. 9: 1042-1050, 2020.
|
|
|
|
|
|
[PubMed: 33112832]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1530/EC-20-0460]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Carman, C. T., Brashear, R. E.
|
|
<strong>Pheochromocytoma as an inherited abnormality: report of the tenth affected kindred and review of the literature.</strong>
|
|
New Eng. J. Med. 263: 419-423, 1960.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Comino-Mendez, I., Gracia-Aznarez, F. J., Schiavi, F., Landa, I., Leandro-Garcia, L. J., Leton, R., Honrado, E., Ramos-Medina, R., Caronia, D., Pita, G., Gomez-Grana, A., de Cubas, A. A., and 17 others.
|
|
<strong>Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.</strong>
|
|
Nature Genet. 43: 663-667, 2011.
|
|
|
|
|
|
[PubMed: 21685915]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng.861]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cook, J. E., Urich, R. W., Sample, H. G., Jr., Fawcett, N. W.
|
|
<strong>Peculiar familial and malignant pheochromocytomas of the organs of Zuckerkandl.</strong>
|
|
Ann. Intern. Med. 52: 126-133, 1960.
|
|
|
|
|
|
[PubMed: 13811705]
|
|
|
|
|
|
[Full Text: https://doi.org/10.7326/0003-4819-52-1-126]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Crossey, P. A., Eng, C., Ginalska-Malinowska, M., Lennard, T. W. J., Wheeler, D. C., Ponder, B. A. J., Maher, E. R.
|
|
<strong>Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.</strong>
|
|
J. Med. Genet. 32: 885-886, 1995.
|
|
|
|
|
|
[PubMed: 8592333]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.32.11.885]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dahia, P. L. M., Hao, K., Rogus, J., Colin, C., Pujana, M. A. G., Ross, K., Magoffin, D., Aronin, N., Cascon, A., Hayashida, C. Y., Li, C., Toledo, S. P. A., Stiles, C. D.
|
|
<strong>Novel pheochromocytoma susceptibility loci identified by integrative genomics.</strong>
|
|
Cancer Res. 65: 9651-9658, 2005.
|
|
|
|
|
|
[PubMed: 16266984]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1158/0008-5472.CAN-05-1427]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dahia, P. L., Toledo, S. P., Mulligan, L. M., Maher, E. R., Grossman, A. B., Eng, C.
|
|
<strong>Mutation analysis of glial cell line-derived neurotrophic factor (GDNF), a ligand for the RET/GDNF receptor alpha complex, in sporadic phaeochromocytomas.</strong>
|
|
Cancer Res. 57: 310-313, 1997.
|
|
|
|
|
|
[PubMed: 9000574]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dluhy, R. G.
|
|
<strong>Pheochromocytoma--death of an axiom.</strong>
|
|
New Eng. J. Med. 346: 1486-1488, 2002.
|
|
|
|
|
|
[PubMed: 12000821]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM200205093461911]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dunn, F. G., De Carvalho, J. G. R., Kem, D. C., Higgins, J. R., Frohlich, E. D.
|
|
<strong>Pheochromocytoma crisis induced by saralasin: relation of angiotensin analogue to catecholamine release.</strong>
|
|
New Eng. J. Med. 295: 605-607, 1976.
|
|
|
|
|
|
[PubMed: 820996]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM197609092951107]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Eisenhofer, G., Lenders, J. W. M., Linehan, W. M., Walther, M. M., Goldstein, D. S., Keiser, H. R.
|
|
<strong>Plasma normetanephrine and metanephrine for detecting pheochromocytoma in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.</strong>
|
|
New Eng. J. Med. 340: 1872-1879, 1999.
|
|
|
|
|
|
[PubMed: 10369850]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM199906173402404]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Eng, C., Crossey, P. A., Mulligan, L. M., Healey, C. S., Houghton, C., Prowse, A., Chew, S. L., Dahia, P. L. M., O'Riordan, J. L. H., Toledo, S. P. A., Smith, D. P., Maher, E. R., Ponder, B. A. J.
|
|
<strong>Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas.</strong>
|
|
J. Med. Genet. 32: 934-937, 1995.
|
|
|
|
|
|
[PubMed: 8825918]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.32.12.934]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Engelman, K., Horwitz, D., Ambrose, I. M., Sjoerdsma, A.
|
|
<strong>Further evaluation of the tyramine test for pheochromocytoma.</strong>
|
|
New Eng. J. Med. 278: 705-709, 1968.
|
|
|
|
|
|
[PubMed: 5638691]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM196803282781304]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fairchild, R. S., Kyner, J. L., Hermreck, A., Schimke, R. N.
|
|
<strong>Neuroblastoma, pheochromocytoma, and renal cell carcinoma: occurrence in a single patient.</strong>
|
|
JAMA 242: 2210-2211, 1979.
|
|
|
|
|
|
[PubMed: 490809]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fearon, E. R., Vogelstein, B.
|
|
<strong>A genetic model for colorectal tumorigenesis.</strong>
|
|
Cell 61: 759-767, 1990.
|
|
|
|
|
|
[PubMed: 2188735]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0092-8674(90)90186-i]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Frankel, F.
|
|
<strong>Ein Fall von doppelseitigem, vollig latent verlaufenen Nebennierentumor und gleichzeitiger Nephritis mit Veranderungen am Circulationsapparat und Retinitis.</strong>
|
|
Arch. Path. Anat. Physiol. Klin. Med. 103: 244-263, 1886.
|
|
|
|
</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">
|
|
Hadorn, W.
|
|
<strong>Maligne Hypernephroide und paraganglionaere Mischgeschwuelste der Nebenniere bei drei Geschwistern.</strong>
|
|
Helv. Med. Acta 30: 291-296, 1963.
|
|
|
|
|
|
[PubMed: 5879103]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hering, A., Guratowska, M., Bucsky, P., Claussen, U., Decker, J., Ernst, G., Hoeppner, W., Michel, S., Neumann, H., Parlowsky, T., Loncarevic, I.
|
|
<strong>Characteristic genomic imbalances in pediatric pheochromocytoma.</strong>
|
|
Genes Chromosomes Cancer 45: 602-607, 2006.
|
|
|
|
|
|
[PubMed: 16518846]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/gcc.20323]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ho, A. D., Feurle, G., Gless, K.-H., Brandeis, W. E.
|
|
<strong>Normotensive familial phaeochromocytoma with predominant noradrenaline secretion.</strong>
|
|
Brit. Med. J. 1: 81-82, 1978.
|
|
|
|
|
|
[PubMed: 620210]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/bmj.1.6105.81-a]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hradec, E., Maratka, Z., Paleckrova, M.
|
|
<strong>Le pheochromocytome avec caractere familial.</strong>
|
|
J. Chir. (Paris) 81: 479-486, 1961.
|
|
|
|
|
|
[PubMed: 13716312]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kaufman, J. J., Franklin, S.
|
|
<strong>Familial pheochromocytoma: a report of 2 cases in a kindred.</strong>
|
|
J. Urol. 121: 801-804, 1979.
|
|
|
|
|
|
[PubMed: 458955]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-5347(17)56999-2]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Khosla, S., Patel, V. M., Hay, I. D., Schaid, D. J., Grant, C. S., van Heerden, J. A., Thibodeau, S. N.
|
|
<strong>Loss of heterozygosity suggests multiple genetic alterations in pheochromocytomas and medullary thyroid carcinomas.</strong>
|
|
J. Clin. Invest. 87: 1691-1699, 1991.
|
|
|
|
|
|
[PubMed: 2022740]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI115186]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Knudson, A. G., Jr., Strong, L. C.
|
|
<strong>Mutation and cancer: neuroblastoma and pheochromocytoma.</strong>
|
|
Am. J. Hum. Genet. 24: 514-532, 1972.
|
|
|
|
|
|
[PubMed: 4340974]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Maher, E. R., Eng, C.
|
|
<strong>The pressure rises: update on the genetics of phaeochromocytoma.</strong>
|
|
Hum. Molec. Genet. 11: 2347-2354, 2002.
|
|
|
|
|
|
[PubMed: 12351569]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/11.20.2347]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Manger, W. M.
|
|
<strong>An overview of pheochromocytoma: history, current concepts, vagaries, and diagnostic challenges.</strong>
|
|
Ann. N.Y. Acad. Sci. 1073: 1-20, 2006.
|
|
|
|
|
|
[PubMed: 17102067]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1196/annals.1353.001]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Melicow, M. M.
|
|
<strong>One hundred cases of pheochromocytoma (107 tumors) at the Columbia-Presbyterian Medical Center, 1926-1976: a clinicopathological analysis.</strong>
|
|
Cancer 40: 1987-2004, 1977.
|
|
|
|
|
|
[PubMed: 922654]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/1097-0142(197711)40:5<1987::aid-cncr2820400502>3.0.co;2-r]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Moley, J. F., Brother, M. B., Fong, C. T., White, P. S., Baylin, S. B., Nelkin, B., Wells, S. A., Brodeur, G. M.
|
|
<strong>Consistent association of 1p loss of heterozygosity with pheochromocytomas from patients with multiple endocrine neoplasia type 2 syndromes.</strong>
|
|
Cancer Res. 52: 770-774, 1992.
|
|
|
|
|
|
[PubMed: 1346584]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Neumann, H. P. H., Bausch, B., McWhinney, S. R., Bender, B. U., Gimm, O., Franke, G., Schipper, J., Klisch, J., Altehoefer, C., Zerres, K., Januszewicz, A., Eng, C.
|
|
<strong>Germ-line mutations in nonsyndromic pheochromocytoma.</strong>
|
|
New Eng. J. Med. 346: 1459-1466, 2002.
|
|
|
|
|
|
[PubMed: 12000816]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMoa020152]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Neumann, H. P. H., Berger, D. P., Sigmund, G., Blum, U., Schmidt, D., Parmer, R. J., Volk, B., Kirste, G.
|
|
<strong>Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease.</strong>
|
|
New Eng. J. Med. 329: 1531-1538, 1993. Note: Erratum: New Eng. J. Med. 331: 1535 only, 1994.
|
|
|
|
|
|
[PubMed: 8105382]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM199311183292103]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Neumann, H. P. H., Reincke, M., Eng, C.
|
|
<strong>Case 13-2001: genetic testing in pheochromocytoma. (Letter)</strong>
|
|
New. Eng. J. Med. 345: 547 only, 2001.
|
|
|
|
|
|
[PubMed: 11519521]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Neumann, H. P. H., Vortmeyer, A., Schmidt, D., Werner, M., Erlic, Z., Cascon, A., Bausch, B., Januszewicz, A., Eng, C.
|
|
<strong>Evidence of MEN-2 in the original description of classic pheochromocytoma.</strong>
|
|
New Eng. J. Med. 357: 1311-1315, 2007.
|
|
|
|
|
|
[PubMed: 17898100]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMoa071407]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ohno, F., Yamano, T., Kataoka, K.
|
|
<strong>A case of congenital aniridia and familial pheochromocytoma--with special reference to aniridia-Wilms' tumor syndrome.</strong>
|
|
Jpn. J. Hum. Genet. 27: 335-340, 1982.
|
|
|
|
|
|
[PubMed: 6306309]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF01900445]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pacak, K., Goldstein, D. S., Doppman, J. L., Shulkin, B. L., Udelsman, R., Eisenhofer, G.
|
|
<strong>A 'pheo' lurks: novel approaches for locating occult pheochromocytoma.</strong>
|
|
J. Clin. Endocr. Metab. 86: 3641-3646, 2001.
|
|
|
|
|
|
[PubMed: 11502790]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jcem.86.8.7714]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pearse, A. G. E.
|
|
<strong>The cytochemistry and ultrastructure of polypeptide hormone-producing cells of the APUD series and the embryologic, physiologic, and pathologic implications of the concept.</strong>
|
|
J. Histochem. Cytochem. 17: 303-313, 1969.
|
|
|
|
|
|
[PubMed: 4143745]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1177/17.5.303]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pillai, S., Gopalan, V., Smith, R. A., Lam, A. K.
|
|
<strong>Updates on the genetics and the clinical impacts on phaeochromocytoma and paraganglioma in the new era.</strong>
|
|
Crit. Rev. Oncol. Hemat. 100: 190-208, 2016.
|
|
|
|
|
|
[PubMed: 26839173]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.critrevonc.2016.01.022]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Qin, Y., Yao, L, King, E. E., Buddavarapu, K., Lenci, R. E., Chocron, E. S., Lechleiter, J. D., Sass, M., Aronin, N., Schiavi, F., Boaretto, F., Opocher, G., Toledo, R. A., Toledo, S. P. A., Stiles, C., Aguiar, R. C. T., Dahia, P. L. M.
|
|
<strong>Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. (Letter)</strong>
|
|
Nature Genet. 42: 229-233, 2010.
|
|
|
|
|
|
[PubMed: 20154675]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng.533]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sawka, A. M., Jaeschke, R., Singh, R. J., Young, W. F., Jr.
|
|
<strong>A comparison of biochemical tests for pheochromocytoma: measurement of fractionated plasma metanephrines compared with the combination of 24-hour urinary metanephrines and catecholamines.</strong>
|
|
J. Clin. Endocr. Metab. 88: 553-558, 2003.
|
|
|
|
|
|
[PubMed: 12574179]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jc.2002-021251]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schimke, R. N., Collins, D. L., Stolle, C. A.
|
|
<strong>Paraganglioma, neuroblastoma, and a SDHB mutation: resolution of a 30-year-old mystery.</strong>
|
|
Am. J. Med. Genet. 152A: 1531-1535, 2010.
|
|
|
|
|
|
[PubMed: 20503330]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.33384]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schlisio, S., Kenchappa, R. S., Vredeveld, L. C. W., George, R. E., Stewart, R., Greulich, H., Shahriari, K., Nguyen, N. V., Pigny, P., Dahia, P. L., Pomeroy, S. L., Maris, J. M., Look, A. T., Meyerson, M., Peeper, D. S., Carter, B. D., Kaelin, W. G., Jr.
|
|
<strong>The kinesin KIF1B-beta (sic) acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor.</strong>
|
|
Genes Dev. 22: 884-893, 2008.
|
|
|
|
|
|
[PubMed: 18334619]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1101/gad.1648608]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Strunge, P., Ingstrup, H. M., Lochte, J. J., Zimmermann-Nielsen, C.
|
|
<strong>Bilateral phaeochromocytoma in two brothers.</strong>
|
|
Acta Paediat. Scand. 61: 729-732, 1972.
|
|
|
|
|
|
[PubMed: 4404154]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1651-2227.1972.tb15977.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Swinton, N. W., Clerkin, E. P., Flint, L. D.
|
|
<strong>Hypercalcemia and familial pheochromocytoma: correction after adrenalectomy.</strong>
|
|
Ann. Intern. Med. 76: 455-457, 1972.
|
|
|
|
|
|
[PubMed: 5015920]
|
|
|
|
|
|
[Full Text: https://doi.org/10.7326/0003-4819-76-3-455]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Toledo, S. P. A., Lourenco, D. M., Jr., Sekiya, T., Lucon, A. M., Baena, M. E. S., Castro, C. C., Bortolotto, L. A., Zerbini, M. C. N., Siqueira, S. A. C., Toledo, R. A., Dahia, P. L. M.
|
|
<strong>Penetrance and clinical features of pheochromocytoma in a six-generation family carrying a germline TMEM127 mutation.</strong>
|
|
J. Clin. Endocr. Metab. 100: E308-E318, 2015. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 25389632]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jc.2014-2473]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
van der Harst, E., de Krijger, R. R., Dinjens, W. N. M., Weeks, L. E., Bonjer, H. J., Bruining, H. A., Lamberts, S. W. J., Koper, J. W.
|
|
<strong>Germline mutations in the VHL gene in patients presenting with phaeochromocytomas.</strong>
|
|
Int. J. Cancer. 77: 337-340, 1998.
|
|
|
|
|
|
[PubMed: 9663592]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(sici)1097-0215(19980729)77:3<337::aid-ijc5>3.0.co;2-p]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Von Doepp, C. E.
|
|
<strong>Das Phaeochromocytom als dominant vererbbare dysgenetische Geschwulst.</strong>
|
|
Virchows Arch. Path. Anat. Physiol. Klin. Med 335: 231-239, 1962.
|
|
|
|
|
|
[PubMed: 13886916]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Welander, J., Larsson, C., Backdahl, M., Hareni, N., Sivler, T., Brauckhoff, M., Soderkvist, P., Gimm, O.
|
|
<strong>Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas.</strong>
|
|
Hum. Molec. Genet. 21: 5406-5416, 2012.
|
|
|
|
|
|
[PubMed: 23010473]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/dds402]
|
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|
|
|
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</p>
|
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</li>
|
|
|
|
<li>
|
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<p class="mim-text-font">
|
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Woodward, E. R., Eng, C., McMahon, R., Voutilainen, R., Affara, N. A., Ponder, B. A. J., Maher, E. R.
|
|
<strong>Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.</strong>
|
|
Hum. Molec. Genet. 6: 1051-1056, 1997.
|
|
|
|
|
|
[PubMed: 9215674]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/6.7.1051]
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