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Entry
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- #614165 - PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 5; PPGL5
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- OMIM
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<p>
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<span class="h4">#614165</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/614165"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS168000"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</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="#molecularGenetics">Molecular Genetics</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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<li role="presentation">
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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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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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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/9075" 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/hereditary-paraganglioma-pheochromocytoma" 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=614165[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 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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</a>
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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:0050773" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/614165" 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://wormbase.org/resources/disease/DOID:0050773" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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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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<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> 0050773<br />
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">ICD+</a>
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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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614165
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</span>
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</span>
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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/PARAGANGLIOMA SYNDROME 5; PPGL5
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</h3>
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</div>
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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PARAGANGLIOMAS 5; PGL5
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</h4>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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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 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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<tbody>
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<span class="mim-font">
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<a href="/geneMap/5/9?start=-3&limit=10&highlight=9">
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5p15.33
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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/paraganglioma syndrome 5
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<td>
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<span class="mim-font">
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<a href="/entry/614165"> 614165 </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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<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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<td>
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<span class="mim-font">
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SDHA
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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/600857"> 600857 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/614165" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS168000" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/614165" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/614165" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<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>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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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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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<strong> NEOPLASIA </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
|
<span class="mim-font">
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|
|
- Paraganglioma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72787006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72787006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/127027008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">127027008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253029009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253029009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302833002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302833002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/803009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">803009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030421</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002668</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002668</a>]</span><br />
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</span>
|
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</div>
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</div>
|
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Variable locations<br />
|
|
|
|
</span>
|
|
</div>
|
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|
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</div>
|
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|
|
</div>
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the succinate dehydrogenase complex, subunit A, flavoprotein gene (SDHA, <a href="/entry/600857#0005">600857.0005</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Pheochromocytoma/paraganglioma syndrome
|
|
- <a href="/phenotypicSeries/PS168000">PS168000</a>
|
|
- 7 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/209?start=-3&limit=10&highlight=209"> 1p36.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/115310"> Pheochromocytoma/paraganglioma syndrome 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/115310"> 115310 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/185470"> SDHB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/185470"> 185470 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1349?start=-3&limit=10&highlight=1349"> 1q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605373"> Pheochromocytoma/paraganglioma syndrome 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605373"> 605373 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602413"> SDHC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602413"> 602413 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/9?start=-3&limit=10&highlight=9"> 5p15.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614165"> Pheochromocytoma/paraganglioma syndrome 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614165"> 614165 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600857"> SDHA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600857"> 600857 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/456?start=-3&limit=10&highlight=456"> 11q12.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601650"> Pheochromocytoma/paraganglioma syndrome 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601650"> 601650 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613019"> SDHAF2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613019"> 613019 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/930?start=-3&limit=10&highlight=930"> 11q23.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168000"> Pheochromocytoma/paraganglioma syndrome 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168000"> 168000 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602690"> SDHD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602690"> 602690 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/392?start=-3&limit=10&highlight=392"> 14q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618475"> Pheochromocytoma/paraganglioma syndrome 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618475"> 618475 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/126063"> DLST </a>
|
|
</span>
|
|
</td>
|
|
<td>
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<a href="/entry/618464"> Pheochromocytoma/paraganglioma syndrome 6 </a>
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<p>A number sign (#) is used with this entry because of evidence that pheochromocytoma/paraganglioma syndrome-5 (PPGL5) is caused by heterozygous mutation in the SDHA gene (<a href="/entry/600857">600857</a>) on chromosome 5p15.</p>
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<p>Pheochromocytoma/paraganglioma syndrome-5 (PPGL5) is an autosomal dominant disorder characterized by the development of neuroendocrine tumors, usually in adulthood. Paragangliomas are tumors derived from paraganglia located throughout the body. Nonchromaffin types primarily serve as chemoreceptors and are located in the head and neck region (i.e., carotid body, jugular, vagal, and tympanic regions), whereas chromaffin types have endocrine activity, conventionally referred to as 'pheochromocytomas,' and are usually located below the head and neck (i.e., adrenal medulla and pre- and paravertebral thoracoabdominal regions). PPGL can manifest as nonchromaffin head and neck tumors only, adrenal and/or extraadrenal pheochromocytomas only, or a combination of the 2 types of tumors (<a href="#1" class="mim-tip-reference" title="Baysal, B. E. <strong>Hereditary paraganglioma targets diverse paraganglia.</strong> J. Med. Genet. 39: 617-622, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12205103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12205103</a>] [<a href="https://doi.org/10.1136/jmg.39.9.617" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12205103">Baysal, 2002</a>; <a href="#4" class="mim-tip-reference" title="Neumann, H. P. H., Pawlu, C., Peczkowska, M., Bausch, B., McWhinney, S. R., Muresan, M., Buchta, M., Franke, G., Klisch, J., Bley, T. A., Hoegerle, S., Boedeker, C. C., Opocher, G., Schipper, J., Januszewicz, A., Eng. C. <strong>Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.</strong> JAMA 292: 943-951, 2004. Note: Erratum: JAMA 292: 1686 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15328326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15328326</a>] [<a href="https://doi.org/10.1001/jama.292.8.943" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15328326">Neumann et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15328326+12205103" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of pheochromocytoma/paraganglioma syndrome, see PPGL1 (<a href="/entry/168000">168000</a>).</p>
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<p><a href="#2" class="mim-tip-reference" title="Burnichon, N,, Briere, J.-J., Libe, R., Vescovo, L., Riviere, J., Tissier, F., Jouanno, E., Jeunemaitre, X., Benit, P., Tzagoloff, A., Rustin, P., Bertherat, J., Favier, J., Gimenez-Roqueplo, A.-P. <strong>SDHA is a tumor suppressor gene causing paraganglioma.</strong> Hum. Molec. Genet. 19: 3011-3020, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20484225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20484225</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20484225[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/10.1093/hmg/ddq206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20484225">Burnichon et al. (2010)</a> reported a 32-year-old woman who developed a catecholamine-secreting extraadrenal paraganglioma. Clinical features included hypertension and hyperadrenergic symptoms, such as dizziness, tachycardia, and sweating. She had high concentrations of urinary normetanephrine, norepinephrine, and chromogranin A. The symptoms resolved after surgical resection of the tumor. There was no family history of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20484225" 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="Korpershoek, E., Favier, J., Gaal, J., Burnichon, N., van Gessel, B., Oudijk, L., Badoual, C., Gadessaud, N., Venisse, A., Bayley, J.-P., van Dooren, M. F., de Herder, W. W., Tissier, F., Plouin, P.-F., van Nederveen, F. H., Dinjens, W. N. M., Gimenez-Roqueplo, A.-P., de Krijger, R. R. <strong>SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas.</strong> J. Clin. Endocr. Metab. 96: E1472-E1476, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21752896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21752896</a>] [<a href="https://doi.org/10.1210/jc.2011-1043" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21752896">Korpershoek et al. (2011)</a> reported 6 additional unrelated patients with PGL5. All tumors occurred sporadically and in different locations: abdomen, bladder, thorax, vagal parasympathetic, carotid body parasympathetic, and pheochromocytoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21752896" 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 a woman with an extraadrenal paraganglioma, <a href="#2" class="mim-tip-reference" title="Burnichon, N,, Briere, J.-J., Libe, R., Vescovo, L., Riviere, J., Tissier, F., Jouanno, E., Jeunemaitre, X., Benit, P., Tzagoloff, A., Rustin, P., Bertherat, J., Favier, J., Gimenez-Roqueplo, A.-P. <strong>SDHA is a tumor suppressor gene causing paraganglioma.</strong> Hum. Molec. Genet. 19: 3011-3020, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20484225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20484225</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20484225[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/10.1093/hmg/ddq206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20484225">Burnichon et al. (2010)</a> identified a heterozygous germline mutation in the SDHA gene (R589W; <a href="/entry/600857#0005">600857.0005</a>). Tumor tissue showed loss of heterozygosity (LOH) at the SDHA locus. In vitro functional expression studies in the yeast homolog showed that the mutation resulted in a loss of SDH activity and rendered the mutant SDHA protein more susceptible to proteolysis. Studies of tumor tissue from the patient showed lack of SDHA and SDHB (<a href="/entry/185470">185470</a>) expression. Transcriptome analysis of the patient's tumor showed a similar pattern as that of other SDH-subunit mutated paraganglioma tumors, including stabilization of HIF1A (<a href="/entry/603348">603348</a>), consistent with activation of a pseudohypoxic pathway and angiogenesis. The findings indicated that SDHA, like other SDH subunits, can act as a tumor suppressor gene. Analysis of a large series of paragangliomas and pheochromocytomas found LOH at the SDHA locus in only 9 (4.5%) of 202 tumors, suggesting that it is an infrequent event. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20484225" 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="Korpershoek, E., Favier, J., Gaal, J., Burnichon, N., van Gessel, B., Oudijk, L., Badoual, C., Gadessaud, N., Venisse, A., Bayley, J.-P., van Dooren, M. F., de Herder, W. W., Tissier, F., Plouin, P.-F., van Nederveen, F. H., Dinjens, W. N. M., Gimenez-Roqueplo, A.-P., de Krijger, R. R. <strong>SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas.</strong> J. Clin. Endocr. Metab. 96: E1472-E1476, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21752896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21752896</a>] [<a href="https://doi.org/10.1210/jc.2011-1043" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21752896">Korpershoek et al. (2011)</a> found that 7 of 316 pheochromocytomas and paragangliomas, including the previously described SDHA-mutated paraganglioma described by <a href="#2" class="mim-tip-reference" title="Burnichon, N,, Briere, J.-J., Libe, R., Vescovo, L., Riviere, J., Tissier, F., Jouanno, E., Jeunemaitre, X., Benit, P., Tzagoloff, A., Rustin, P., Bertherat, J., Favier, J., Gimenez-Roqueplo, A.-P. <strong>SDHA is a tumor suppressor gene causing paraganglioma.</strong> Hum. Molec. Genet. 19: 3011-3020, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20484225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20484225</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20484225[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/10.1093/hmg/ddq206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20484225">Burnichon et al. (2010)</a>, were negative for SDHA immunostaining. All patients were found to carry a heterozygous mutation in the SDHA gene (<a href="/entry/600857#0005">600857.0005</a>; <a href="/entry/600857#0008">600857.0008</a>-<a href="/entry/600857#0009">600857.0009</a>), and all tumor tissue showed loss of heterozygosity for the wildtype SDHA allele. None of the patients had a family history of the disorder. All tumors were also negative for SDHB immunostaining, suggesting that impaired complex II formation results in SDHB degradation. The findings established SDHA as a tumor-suppressor gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20484225+21752896" 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 20-year-old woman with a renal paraganglioma, <a href="#5" class="mim-tip-reference" title="Welander, J., Garvin, S., Bohnmark, R., Isaksson, L., Wiseman, R. W., Soderkvist, P., Gimm, O. <strong>Germline SDHA mutation detected by next-generation sequencing in a young index patient with large paraganglioma.</strong> J. Clin. Endocr. Metab. 98: E1379-E1380, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23750034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23750034</a>] [<a href="https://doi.org/10.1210/jc.2013-1963" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23750034">Welander et al. (2013)</a> identified a heterozygous truncating mutation in the SDHA gene (R75X; <a href="/entry/600857#0010">600857.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23750034" 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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Burnichon, N,, Briere, J.-J., Libe, R., Vescovo, L., Riviere, J., Tissier, F., Jouanno, E., Jeunemaitre, X., Benit, P., Tzagoloff, A., Rustin, P., Bertherat, J., Favier, J., Gimenez-Roqueplo, A.-P.
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Hum. Molec. Genet. 19: 3011-3020, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20484225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20484225</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20484225[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=20484225" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Korpershoek, E., Favier, J., Gaal, J., Burnichon, N., van Gessel, B., Oudijk, L., Badoual, C., Gadessaud, N., Venisse, A., Bayley, J.-P., van Dooren, M. F., de Herder, W. W., Tissier, F., Plouin, P.-F., van Nederveen, F. H., Dinjens, W. N. M., Gimenez-Roqueplo, A.-P., de Krijger, R. R.
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<strong>SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas.</strong>
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J. Clin. Endocr. Metab. 96: E1472-E1476, 2011. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21752896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21752896</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21752896" 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.2011-1043" target="_blank">Full Text</a>]
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Neumann, H. P. H., Pawlu, C., Peczkowska, M., Bausch, B., McWhinney, S. R., Muresan, M., Buchta, M., Franke, G., Klisch, J., Bley, T. A., Hoegerle, S., Boedeker, C. C., Opocher, G., Schipper, J., Januszewicz, A., Eng. C.
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<strong>Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.</strong>
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JAMA 292: 943-951, 2004. Note: Erratum: JAMA 292: 1686 only, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15328326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15328326</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15328326" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/jama.292.8.943" target="_blank">Full Text</a>]
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Welander, J., Garvin, S., Bohnmark, R., Isaksson, L., Wiseman, R. W., Soderkvist, P., Gimm, O.
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<strong>Germline SDHA mutation detected by next-generation sequencing in a young index patient with large paraganglioma.</strong>
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J. Clin. Endocr. Metab. 98: E1379-E1380, 2013. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23750034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23750034</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23750034" 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.2013-1963" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 9/21/2015
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Cassandra L. Kniffin : 8/14/2011
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carol : 10/17/2023
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ckniffin : 10/11/2023<br>carol : 09/24/2015<br>ckniffin : 9/21/2015<br>carol : 8/16/2011<br>wwang : 8/16/2011<br>ckniffin : 8/15/2011
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<strong>#</strong> 614165
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PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 5; PPGL5
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<em>Alternative titles; symbols</em>
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PARAGANGLIOMAS 5; PGL5
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<strong>ORPHA:</strong> 29072;
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<strong>DO:</strong> 0050773;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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5p15.33
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Pheochromocytoma/paraganglioma syndrome 5
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614165
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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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SDHA
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<span class="mim-font">
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600857
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that pheochromocytoma/paraganglioma syndrome-5 (PPGL5) is caused by heterozygous mutation in the SDHA gene (600857) on chromosome 5p15.</p>
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<strong>Description</strong>
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<p>Pheochromocytoma/paraganglioma syndrome-5 (PPGL5) is an autosomal dominant disorder characterized by the development of neuroendocrine tumors, usually in adulthood. Paragangliomas are tumors derived from paraganglia located throughout the body. Nonchromaffin types primarily serve as chemoreceptors and are located in the head and neck region (i.e., carotid body, jugular, vagal, and tympanic regions), whereas chromaffin types have endocrine activity, conventionally referred to as 'pheochromocytomas,' and are usually located below the head and neck (i.e., adrenal medulla and pre- and paravertebral thoracoabdominal regions). PPGL can manifest as nonchromaffin head and neck tumors only, adrenal and/or extraadrenal pheochromocytomas only, or a combination of the 2 types of tumors (Baysal, 2002; Neumann et al., 2004). </p><p>For a discussion of genetic heterogeneity of pheochromocytoma/paraganglioma syndrome, see PPGL1 (168000).</p>
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<strong>Clinical Features</strong>
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<p>Burnichon et al. (2010) reported a 32-year-old woman who developed a catecholamine-secreting extraadrenal paraganglioma. Clinical features included hypertension and hyperadrenergic symptoms, such as dizziness, tachycardia, and sweating. She had high concentrations of urinary normetanephrine, norepinephrine, and chromogranin A. The symptoms resolved after surgical resection of the tumor. There was no family history of the disorder. </p><p>Korpershoek et al. (2011) reported 6 additional unrelated patients with PGL5. All tumors occurred sporadically and in different locations: abdomen, bladder, thorax, vagal parasympathetic, carotid body parasympathetic, and pheochromocytoma. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>In a woman with an extraadrenal paraganglioma, Burnichon et al. (2010) identified a heterozygous germline mutation in the SDHA gene (R589W; 600857.0005). Tumor tissue showed loss of heterozygosity (LOH) at the SDHA locus. In vitro functional expression studies in the yeast homolog showed that the mutation resulted in a loss of SDH activity and rendered the mutant SDHA protein more susceptible to proteolysis. Studies of tumor tissue from the patient showed lack of SDHA and SDHB (185470) expression. Transcriptome analysis of the patient's tumor showed a similar pattern as that of other SDH-subunit mutated paraganglioma tumors, including stabilization of HIF1A (603348), consistent with activation of a pseudohypoxic pathway and angiogenesis. The findings indicated that SDHA, like other SDH subunits, can act as a tumor suppressor gene. Analysis of a large series of paragangliomas and pheochromocytomas found LOH at the SDHA locus in only 9 (4.5%) of 202 tumors, suggesting that it is an infrequent event. </p><p>Korpershoek et al. (2011) found that 7 of 316 pheochromocytomas and paragangliomas, including the previously described SDHA-mutated paraganglioma described by Burnichon et al. (2010), were negative for SDHA immunostaining. All patients were found to carry a heterozygous mutation in the SDHA gene (600857.0005; 600857.0008-600857.0009), and all tumor tissue showed loss of heterozygosity for the wildtype SDHA allele. None of the patients had a family history of the disorder. All tumors were also negative for SDHB immunostaining, suggesting that impaired complex II formation results in SDHB degradation. The findings established SDHA as a tumor-suppressor gene. </p><p>In a 20-year-old woman with a renal paraganglioma, Welander et al. (2013) identified a heterozygous truncating mutation in the SDHA gene (R75X; 600857.0010). </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</h4>
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Baysal, B. E.
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<strong>Hereditary paraganglioma targets diverse paraganglia.</strong>
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J. Med. Genet. 39: 617-622, 2002.
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[PubMed: 12205103]
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[Full Text: https://doi.org/10.1136/jmg.39.9.617]
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Burnichon, N,, Briere, J.-J., Libe, R., Vescovo, L., Riviere, J., Tissier, F., Jouanno, E., Jeunemaitre, X., Benit, P., Tzagoloff, A., Rustin, P., Bertherat, J., Favier, J., Gimenez-Roqueplo, A.-P.
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<strong>SDHA is a tumor suppressor gene causing paraganglioma.</strong>
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Hum. Molec. Genet. 19: 3011-3020, 2010.
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[PubMed: 20484225]
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[Full Text: https://doi.org/10.1093/hmg/ddq206]
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Korpershoek, E., Favier, J., Gaal, J., Burnichon, N., van Gessel, B., Oudijk, L., Badoual, C., Gadessaud, N., Venisse, A., Bayley, J.-P., van Dooren, M. F., de Herder, W. W., Tissier, F., Plouin, P.-F., van Nederveen, F. H., Dinjens, W. N. M., Gimenez-Roqueplo, A.-P., de Krijger, R. R.
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<strong>SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas.</strong>
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J. Clin. Endocr. Metab. 96: E1472-E1476, 2011. Note: Electronic Article.
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[PubMed: 21752896]
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[Full Text: https://doi.org/10.1210/jc.2011-1043]
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Neumann, H. P. H., Pawlu, C., Peczkowska, M., Bausch, B., McWhinney, S. R., Muresan, M., Buchta, M., Franke, G., Klisch, J., Bley, T. A., Hoegerle, S., Boedeker, C. C., Opocher, G., Schipper, J., Januszewicz, A., Eng. C.
|
|
<strong>Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.</strong>
|
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JAMA 292: 943-951, 2004. Note: Erratum: JAMA 292: 1686 only, 2004.
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[PubMed: 15328326]
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[Full Text: https://doi.org/10.1001/jama.292.8.943]
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Welander, J., Garvin, S., Bohnmark, R., Isaksson, L., Wiseman, R. W., Soderkvist, P., Gimm, O.
|
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<strong>Germline SDHA mutation detected by next-generation sequencing in a young index patient with large paraganglioma.</strong>
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J. Clin. Endocr. Metab. 98: E1379-E1380, 2013. Note: Electronic Article.
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[PubMed: 23750034]
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[Full Text: https://doi.org/10.1210/jc.2013-1963]
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Cassandra L. Kniffin - updated : 9/21/2015
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Cassandra L. Kniffin : 8/14/2011
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carol : 10/17/2023<br>ckniffin : 10/11/2023<br>carol : 09/24/2015<br>ckniffin : 9/21/2015<br>carol : 8/16/2011<br>wwang : 8/16/2011<br>ckniffin : 8/15/2011
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