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Entry
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- #160980 - CARNEY COMPLEX, TYPE 1; CNC1
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- OMIM
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<p>
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<span class="h4">#160980</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/160980"><strong>Clinical Synopsis</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="#inheritance">Inheritance</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#nomenclature">Nomenclature</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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<li role="presentation">
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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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<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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<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 style="display: table-cell;">Clinical Resources</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=CARNEY COMPLEX, TYPE" 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=2389&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/NBK1286/" 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/7902" 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/carney-complex" 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=160980[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=1359" 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><a href="https://www.possumcore.com/nuxeo/nxdoc/default/01698d41-3d78-435e-92a9-584524ad3a5c/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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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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<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:0050471" 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/160980" 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/OMIA000247/" 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:0050471" 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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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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 id="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:160980" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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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>SNOMEDCT:</strong> 733491005<br />
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<strong>ORPHA:</strong> 1359<br />
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<strong>DO:</strong> 0050471<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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160980
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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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CARNEY COMPLEX, TYPE 1; CNC1
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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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<h4>
|
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<span class="mim-font">
|
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CARNEY MYXOMA-ENDOCRINE COMPLEX<br />
|
|
CARNEY SYNDROME; CAR<br />
|
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MYXOMA, SPOTTY PIGMENTATION, AND ENDOCRINE OVERACTIVITY<br />
|
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NAME SYNDROME<br />
|
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LAMB SYNDROME
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/881?start=-3&limit=10&highlight=881">
|
|
17q24.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Carney complex, type 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160980"> 160980 </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">
|
|
PRKAR1A
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188830"> 188830 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/160980" 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/160980" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/160980" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Conjunctival and scleral pigmentation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834419&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834419</a>]</span><br /> -
|
|
Eyelid myxoma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834420&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834420</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Atrial myxoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/233854003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">233854003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151241&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151241</a>]</span><br /> -
|
|
Ventricular myxoma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1710629&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1710629</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>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Profuse pigmented skin lesions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834424&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834424</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005587" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005587</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005587" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005587</a>]</span><br /> -
|
|
Nevi <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51697005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51697005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027960</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003764" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003764</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003764" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003764</a>]</span><br /> -
|
|
Ephelides <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/699225003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">699225003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/403536009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">403536009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L81.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L81.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016689&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016689</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001480" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001480</a>]</span><br /> -
|
|
Centrofacial/mucosal lentigines <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834425&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834425</a>]</span><br /> -
|
|
Blue nevi <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63166000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63166000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254806009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254806009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0206736&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0206736</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100814" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100814</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hair </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hirsutism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399939002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399939002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L68.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L68.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/704.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001007</a>]</span><br /> -
|
|
Red Hair <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/297997007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">297997007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239803&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239803</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002297</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002297</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
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<span class="mim-font">
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- Pigmented micronodular adrenal dysplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969545&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969545</a>]</span><br /> -
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Cushing disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/190502001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">190502001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E24.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E24.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221406&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221406</a>]</span><br /> -
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Acromegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74107003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74107003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001206&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001206</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033794" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033794</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033794" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033794</a>]</span><br /> -
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Thyroid follicular hyperplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969546&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969546</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008225" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008225</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008225" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008225</a>]</span><br />
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<strong> NEOPLASIA </strong>
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- Myxoid subcutaneous tumors <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834421</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006769" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006769</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006769" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006769</a>]</span><br /> -
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Primary adrenocortical nodular hyperplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834422&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834422</a>]</span><br /> -
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Testicular Sertoli cell tumor, calcified <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969547&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969547</a>]</span><br /> -
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Pituitary adenoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254956000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254956000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0032000&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0032000</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002893" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002893</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002893" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002893</a>]</span><br /> -
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Mammary ductal fibroadenoma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834423&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834423</a>]</span><br /> -
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Schwannoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/985004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">985004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/189948006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">189948006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027809&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027809</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100008</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100008</a>]</span><br /> -
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Psammomatous melanotic schwannomas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969548&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969548</a>]</span><br /> -
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Thyroid carcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/448216007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">448216007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3163939&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3163939</a>, <a href="https://bioportal.bioontology.org/search?q=C0549473&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0549473</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002890" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002890</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002890" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002890</a>]</span><br /> -
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Pheochromocytoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85583005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85583005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302835009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302835009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0031511&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0031511</a>, <a href="https://bioportal.bioontology.org/search?q=C4551683&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551683</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002666" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002666</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0006748" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006748</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002666" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002666</a>]</span><br />
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</span>
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<strong> MISCELLANEOUS </strong>
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<div style="margin-left: 2em;">
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- Genetic heterogeneity (see CNC2, <a href="/entry/605244">605244</a>) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br />
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</span>
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</div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Caused by mutation in the cAMP-dependent protein kinase, regulatory, type I, alpha gene (PRKAR1A, <a href="/entry/188830#0001">188830.0001</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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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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<p>A number sign (#) is used with this entry because Carney complex type 1 (CNC1) is caused by heterozygous mutation in the protein kinase A regulatory subunit-1-alpha gene (PRKAR1A; <a href="/entry/188830">188830</a>) on chromosome 17q24.</p>
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<strong>Description</strong>
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<p>Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; <a href="/entry/131100">131100</a> and MEN2; <a href="/entry/171400">171400</a>). Carney complex shows some similarities to McCune-Albright syndrome (MAS; <a href="/entry/174800">174800</a>), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS; <a href="/entry/175200">175200</a>). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas (<a href="#17" class="mim-tip-reference" title="Kirschner, L. S., Carney, J. A., Pack, S. D., Taymans, S. E., Giatzakis, C., Cho, Y. S., Cho-Chung, Y. S., Stratakis, C. A. <strong>Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.</strong> Nature Genet. 26: 89-92, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973256</a>] [<a href="https://doi.org/10.1038/79238" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973256">Kirschner et al., 2000</a>; <a href="#34" class="mim-tip-reference" title="Stratakis, C. A., Kirschner, L. S., Carney, J. A. <strong>Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation.</strong> J. Clin. Endocr. Metab. 86: 4041-4046, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11549623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11549623</a>] [<a href="https://doi.org/10.1210/jcem.86.9.7903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11549623">Stratakis et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10973256+11549623" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Carney Complex</em></strong></p><p>
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Carney complex type 2 (CNC2; <a href="/entry/605244">605244</a>) has been mapped to chromosome 2p16, indicating genetic heterogeneity.</p><p>See also isolated primary pigmented nodular adrenocortical disease (PPNAD1; <a href="/entry/610489">610489</a>) and isolated cardiac myxoma (<a href="/entry/255960">255960</a>), both of which are manifestations of the Carney complex that can be seen in isolation.</p><p>A family with features of the Carney complex and distal arthrogryposis (<a href="/entry/608837">608837</a>) associated with a mutation in the MYH8 gene (<a href="/entry/160741">160741</a>) has also been reported.</p>
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<p><a href="#25" class="mim-tip-reference" title="Rees, J. R., Ross, F. G. M., Keen, G. <strong>Lentiginosis and left atrial myxoma.</strong> Brit. Heart J. 35: 874-876, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4729862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4729862</a>] [<a href="https://doi.org/10.1136/hrt.35.8.874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4729862">Rees et al. (1973)</a> reported a young man with red hair and fair skin who had multiple lentigines and a left atrial myxoma. Autosomal dominant inheritance was suggested. Follow-up of this patient by <a href="#1" class="mim-tip-reference" title="Atherton, D. J., Pitcher, D. W., Wells, R. S., MacDonald, D. M. <strong>A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxoma: the NAME syndrome.</strong> Brit. J. Derm. 103: 421-429, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7437308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7437308</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1980.tb07266.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7437308">Atherton et al. (1980)</a> referred to a palatal tumor with characteristics of myxoid neurofibroma. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4729862+7437308" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Atherton, D. J., Pitcher, D. W., Wells, R. S., MacDonald, D. M. <strong>A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxoma: the NAME syndrome.</strong> Brit. J. Derm. 103: 421-429, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7437308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7437308</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1980.tb07266.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7437308">Atherton et al. (1980)</a> reported a 10-year-old boy with cutaneous pigmented lesions, subcutaneous myxoid neurofibromata, and atrial myxoma. At birth, 3 pigmented lesions were noted on the neck, trunk, and thigh; a large number of pigmented lesions developed in the first few weeks of life. He developed several myxoid neurofibromata on the ear, chin, and anterior chest, as well as 2 cardiac atrial myxomas. The boy had blue eyes and hair of a distinctive rust-red color. Both parents had multiple freckles, although less so than the patient. <a href="#1" class="mim-tip-reference" title="Atherton, D. J., Pitcher, D. W., Wells, R. S., MacDonald, D. M. <strong>A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxoma: the NAME syndrome.</strong> Brit. J. Derm. 103: 421-429, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7437308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7437308</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1980.tb07266.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7437308">Atherton et al. (1980)</a> suggested the designation 'NAME syndrome' as an acronym for nevi, atrial myxoma, myxoid neurofibromata, and ephelides (freckles). <a href="#19" class="mim-tip-reference" title="Koopman, R. J. J., Happle, R. <strong>Autosomal dominant transmission of the NAME syndrome (nevi, atrial myxoma, mucinosis of the skin and endocrine overactivity).</strong> Hum. Genet. 86: 300-304, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1997386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1997386</a>] [<a href="https://doi.org/10.1007/BF00202415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1997386">Koopman and Happle (1991)</a> suggested that the acronym NAME could stand for nevi, atrial myxoma, mucinosis of the skin, and endocrine overactivity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1997386+7437308" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Proppe, K. H., Scully, R. E. <strong>Large-cell calcifying Sertoli cell tumor of the testis.</strong> Am. J. Clin. Path. 74: 607-619, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7446466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7446466</a>] [<a href="https://doi.org/10.1093/ajcp/74.5.607" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7446466">Proppe and Scully (1980)</a> reported familial occurrence of large-cell calcifying Sertoli cell tumor of the testes and cardiac myxoma. In a follow-up of a family reported by <a href="#24" class="mim-tip-reference" title="Proppe, K. H., Scully, R. E. <strong>Large-cell calcifying Sertoli cell tumor of the testis.</strong> Am. J. Clin. Path. 74: 607-619, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7446466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7446466</a>] [<a href="https://doi.org/10.1093/ajcp/74.5.607" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7446466">Proppe and Scully (1980)</a>, <a href="#8" class="mim-tip-reference" title="Carney, J. A., Headington, J. T., Su, W. P. D. <strong>Cutaneous myxomas: a major component of the complex of myxomas, spotty pigmentation, and endocrine overactivity.</strong> Arch. Derm. 122: 790-798, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3729510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3729510</a>] [<a href="https://doi.org/10.1001/archderm.122.7.790" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3729510">Carney et al. (1986)</a> noted that 2 affected brothers also had nodular adrenocortical hyperplasia. Their mother had skin pigmentation and left atrial myxoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3729510+7446466" 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="#28" class="mim-tip-reference" title="Schweizer-Cagianut, M., Froesch, E. R., Hedinger, C. <strong>Familial Cushing's syndrome with primary adrenocortical microadenomatosis (primary adrenocortical nodular dysplasia).</strong> Acta Endocr. 94: 529-535, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6254301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6254301</a>] [<a href="https://doi.org/10.1530/acta.0.0940529" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6254301">Schweizer-Cagianut et al. (1980)</a> reported a brother and sister with Cushing syndrome associated with primary adrenocortical micronodular dysplasia. The brother also had fibromas of the skin, suggesting the diagnosis of neurofibromatosis type 1 (NF1; <a href="/entry/162200">162200</a>), but cafe-au-lait spots were absent. The sister had a documented intracranial bleed, fibromas of the eyelid, and microcalcification of the breasts. Functional tests suggested an intrinsic defect in the adrenals and no hypothalamic-pituitary dysfunction. In a follow-up report of the same family, <a href="#29" class="mim-tip-reference" title="Schweizer-Cagianut, M., Salomon, F., Hedinger, C. E. <strong>Primary adrenocortical nodular dysplasia with Cushing's syndrome and cardiac myxomas: a peculiar familial disease.</strong> Virchows Arch. A Path. Anat. Histol. 397: 183-192, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7179736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7179736</a>] [<a href="https://doi.org/10.1007/BF00442388" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7179736">Schweizer-Cagianut et al. (1982)</a> noted that an older brother had died at age 5 years of atrial myxoma; he had a hemangioma of the right groin. On autopsy at age 36 years, the affected sister was found to have a cardiac myxoma. The fibroma of her eyelid was reinterpreted as a myxoma; both breasts contained multiple small benign fibroadenomas with an unusual myxomatous and vascularized stroma, and she was noted to have had finely freckled pigmentation around the mouth and lips. <a href="#29" class="mim-tip-reference" title="Schweizer-Cagianut, M., Salomon, F., Hedinger, C. E. <strong>Primary adrenocortical nodular dysplasia with Cushing's syndrome and cardiac myxomas: a peculiar familial disease.</strong> Virchows Arch. A Path. Anat. Histol. 397: 183-192, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7179736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7179736</a>] [<a href="https://doi.org/10.1007/BF00442388" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7179736">Schweizer-Cagianut et al. (1982)</a> concluded that the family had a syndrome comprising adrenocortical nodular dysplasia, Cushing syndrome, and myxomatous tumors. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6254301+7179736" 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="Barlow, J. F., Abu-Gazeleh, S., Tam, G. E., Wirtz, P. S., Ofstein, L. C., O'Brien, C. P., Woods, G. L., Drymalski, W. G. <strong>Myxoid tumor of the uterus and right atrial myxomas.</strong> S. Dakota J. Med. 36: 9-13, 1983."None>Barlow et al. (1983)</a> described 2 sisters with the combination of Cushing syndrome, cardiac myxomas, other myxoid tumors, and spotty facial and labial pigmentation.</p><p><a href="#7" class="mim-tip-reference" title="Carney, J. A., Gordon, H., Carpenter, P. C., Shenoy, B. V., Go, V. L. W. <strong>The complex of myxomas, spotty pigmentation, and endocrine overactivity.</strong> Medicine 64: 270-283, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4010501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4010501</a>] [<a href="https://doi.org/10.1097/00005792-198507000-00007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4010501">Carney et al. (1985)</a> presented evidence for the existence of a distinct familial syndrome consisting of spotty cutaneous pigmentation, myxomas of the heart and elsewhere, and Cushing syndrome resulting from nodular adrenocortical dysplasia. In their family, a brother of the patient had pigmented spots of the face and lips, had multiple nodular and pedunculated myxomas of the skin, and at age 21 was found to have acromegaly caused by pituitary adenoma. Successful hypophysectomy was performed. A single pigmented macule was found in the mouth in only 2 of 40 patients, in contrast to the Peutz-Jeghers syndrome in which buccal spotting is a standard feature. Pigmented skin lesions were identified on the face, eyelids, ears, and vermilion borders of the lips, conjunctiva or sclera, vulva, back of hands and fingers, anal verge, and glans penis. Testicular tumors were identified in 9 of 17 male patients; they were bilateral in 7 patients and multicentric in each affected testis. The testicular tumors were large-cell calcifying Sertoli cell tumor, Leydig cell tumor, or adrenocortical rest tumor. Sexual precocity occurred with the first 2 types. Two patients had an unusual tumor referred to as a 'calcifying pigmented neuroectodermal tumor.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4010501" 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="#37" class="mim-tip-reference" title="Wilsher, M. L., Synek, B. J. L., Roche, A. H. G., Holdaway, I. M., Neutze, J. M., Nicholson, G. I. <strong>A familial syndrome of cardiac myxomas, myxoid neurofibromata, cutaneous pigmented lesions, and endocrine abnormalities.</strong> Aust. New Zeal. J. Med. 16: 393-396, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3465316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3465316</a>] [<a href="https://doi.org/10.1111/j.1445-5994.1986.tb01196.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3465316">Wilsher et al. (1986)</a> described an affected mother and her son and daughter. The mother had left and right atrial myxomata, and the daughter had a left ventricular myxoma, subcutaneous myxoid neurofibromata, and mammary fibroadenosis. Although the son had no evidence of cardiac myxoma, photos demonstrated that all 3 had melanin spots around the lips and over the bridge of the nose. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3465316" 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="#36" class="mim-tip-reference" title="Vidaillet, H. J., Jr., Seward, J. B., Fyke, F. E., III, Su, W. P. D., Tajik, A. J. <strong>'Syndrome myxoma': a subset of patients with cardiac myxoma associated with pigmented skin lesions and peripheral and endocrine neoplasms.</strong> Brit. Heart J. 57: 247-255, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3566983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3566983</a>] [<a href="https://doi.org/10.1136/hrt.57.3.247" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3566983">Vidaillet et al. (1987)</a> found 5 cases of what they termed 'syndrome myxoma' out of a total of 75 patients with cardiac myxoma seen at the Mayo Clinic between January 1954 and December 1985. They compared 49 cases of syndrome myxoma with cases of sporadic myxoma; the former showed a younger age, a higher frequency of familial occurrence, ventricular location of tumor (13% vs 0%), multiple tumors (50% vs 1%), and recurrent tumor (18% vs 0%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3566983" 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="Young, W. F., Jr., Carney, J. A., Musa, B. U., Wulffraat, N. M., Lens, J. W., Drexhage, H. A. <strong>Familial Cushing's syndrome due to primary pigmented nodular adrenocortical disease: reinvestigation 50 years later.</strong> New Eng. J. Med. 321: 1659-1664, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2586567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2586567</a>] [<a href="https://doi.org/10.1056/NEJM198912143212407" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2586567">Young et al. (1989)</a> provided a 50-year follow-up report of a woman seen at the Mayo Clinic at the age of 17 for Cushing syndrome associated with adrenal dysfunction. The adrenals were mottled brown in appearance and contained nodules composed of large adrenocortical cells with moderately intense brown cytoplasmic pigment. A photograph taken at that time showed spotty pigmentation involving the face and vermilion borders of the lips as well as the chest and shoulders. A fraternal twin of this woman had the same features of Cushing syndrome and spotty facial and labial pigmentation. He was found to have abnormal adrenal glands with 2- to 3-mm reddish brown bulging nodules and coarsely granular brown pigment. Both daughters of the proband had spotty facial pigmentation; 1 also had primary pigmented nodular adrenal cortical disease and a nasopharyngeal schwannoma. Several other members of the family had spotty facial pigmentation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2586567" 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="#15" class="mim-tip-reference" title="Handley, J., Carson, D., Sloan, J., Walsh, M., Thornton, C., Hadden, D., Bingham, E. A. <strong>Multiple lentigines, myxoid tumours and endocrine overactivity; four cases of Carney's complex.</strong> Brit. J. Derm. 126: 367-371, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1571257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1571257</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1992.tb00680.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1571257">Handley et al. (1992)</a> described the Carney syndrome in a mother and her son and daughter. All 3 had varying degrees of centrofacial/mucosal lentigines and cutaneous myxoid tumors. The mother had myxoid mammary fibroadenomatosis and a left atrial myxoma; her daughter developed a prolactin-secreting pituitary adenoma; the son had bilateral large-cell calcified Sertoli cell testicular tumors and an axillary psammomatous melanotic schwannoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1571257" 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 review of 53 patients with Carney complex from 12 families, <a href="#31" class="mim-tip-reference" title="Stratakis, C. A., Courcoutsakis, N. A., Abati, A., Filie, A., Doppman, J. L., Carney, J. A., Shawker, T. <strong>Thyroid gland abnormalities in patients with the syndrome of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas (Carney complex).</strong> J. Clin. Endocr. Metab. 82: 2037-2043, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215269</a>] [<a href="https://doi.org/10.1210/jcem.82.7.4079" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9215269">Stratakis et al. (1997)</a> identified 2 patients with thyroid carcinoma (1 papillary and 1 follicular; 3.8%) and 1 with a follicular adenoma. Detailed laboratory studies of the thyroid gland of 5 affected adults and 6 affected children showed normal results, but thyroid ultrasonography showed hypoechoic, cystic, solid, or mixed lesions in 3 of the 5 adults (60%) and 4 of the 6 children (67%). Thyroid gland abnormalities were documented in 5 sibs and 1 parent-child pair. <a href="#31" class="mim-tip-reference" title="Stratakis, C. A., Courcoutsakis, N. A., Abati, A., Filie, A., Doppman, J. L., Carney, J. A., Shawker, T. <strong>Thyroid gland abnormalities in patients with the syndrome of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas (Carney complex).</strong> J. Clin. Endocr. Metab. 82: 2037-2043, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215269</a>] [<a href="https://doi.org/10.1210/jcem.82.7.4079" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9215269">Stratakis et al. (1997)</a> concluded that thyroid gland pathology is common in patients with Carney complex, and includes a spectrum of abnormalities ranging from follicular hyperplasia and/or cystic changes to carcinoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9215269" 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="#22" class="mim-tip-reference" title="Nwokoro, N. A., Korytkowski, M. T., Rose, S., Gorin, M. B., Stadler, M. P., Witchel, S. F., Mulvihill, J. J. <strong>Spectrum of malignancy and premalignancy in Carney syndrome.</strong> Am. J. Med. Genet. 73: 369-377, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9415461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9415461</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19971231)73:4<369::aid-ajmg1>3.0.co;2-j" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9415461">Nwokoro et al. (1997)</a> reported an extensively affected family. The proband was a 34-year-old woman with multiple nevi, diffuse facial lentigines, and labial pigmentation present from an early age. Right ventricular myxomas were resected at the age of 30. She also had invasive follicular carcinoma of the thyroid gland, Barrett metaplasia of the esophagus, neoplastic colonic polyps, bipolar affective disorder, and atypical mesenchymal neoplasm of the uterine cervix distinct from the myxoid uterine leiomyoma usually seen in this syndrome. Diagnosis of Carney syndrome was established in her 9-year-old son, and there was a probable diagnosis in her 12-year-old daughter. Various endocrine manifestations occurred in at least 9 relatives in 3 generations. Pituitary microadenoma and calcifying testicular tumor were present in 1 relative each. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9415461" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Legius, E., Daenen, W., Vandenbergh, V., Verbeeck, G., Bex, M., Fryns, J. P. <strong>Syndrome of myxomas, spotty skin pigmentation, and endocrine overactivity (Carney complex).</strong> Genet. Counsel. 9: 287-290, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9894167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9894167</a>]" pmid="9894167">Legius et al. (1998)</a> reported a 41-year-old man with the Carney complex. Clinical features included a pigmented schwannoma on a lumbar nerve root with microscopically demonstrated psammoma bodies (melanocytic schwannoma), atrial myxoma resulting in a cerebellar ischemic stroke, and melanin spots on the vermilion border of the lips, eyelids, and back of the hands. He also had a left nonfunctional adrenal adenoma, macroorchidism, and reduced fertility. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9894167" 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="#14" class="mim-tip-reference" title="Goldstein, M. M., Casey, M., Carney, J. A., Basson, C. T. <strong>Molecular genetic diagnosis of the familial myxoma syndrome (Carney complex).</strong> Am. J. Med. Genet. 86: 62-65, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10440831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10440831</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990903)86:1<62::aid-ajmg12>3.0.co;2-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10440831">Goldstein et al. (1999)</a> reported a 40-year-old man who was a member of a family segregating for Carney complex, but was initially not thought to be affected. However, a review of pathologic studies and haplotype analysis based on genotyping studies with 17q2 microsatellites showed that he was affected. He presented with recurrent neurofibroma, a tumor that had not been considered a component of Carney complex. Subsequent review revealed findings consistent with cutaneous myxoma. Echocardiography displayed interatrial septal thickening. In addition, he was noted to have abnormal facial and eyelid hyperpigmented spots with involvement of the buccal mucosa. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10440831" 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="#9" class="mim-tip-reference" title="Carney, J. A., Hruska, H. S., Beauchamp, G. D., Gordon, H. <strong>Dominant inheritance of the complex of myxomas, spotty pigmentation, and endocrine overactivity.</strong> Mayo Clin. Proc. 61: 165-172, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3945116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3945116</a>] [<a href="https://doi.org/10.1016/s0025-6196(12)61843-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3945116">Carney et al. (1986)</a> suggested autosomal dominant inheritance. At least one manifestation of the syndrome occurred in 3 successive generations of an affected family. Both males and females were affected, and 5 of 11 children of affected persons had the disorder, although no male-to-male transmission had been reported until the report of <a href="#19" class="mim-tip-reference" title="Koopman, R. J. J., Happle, R. <strong>Autosomal dominant transmission of the NAME syndrome (nevi, atrial myxoma, mucinosis of the skin and endocrine overactivity).</strong> Hum. Genet. 86: 300-304, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1997386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1997386</a>] [<a href="https://doi.org/10.1007/BF00202415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1997386">Koopman and Happle (1991)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1997386+3945116" 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="#16" class="mim-tip-reference" title="Kennedy, R. H., Waller, R. R., Carney, J. A. <strong>Ocular pigmented spots and eyelid myxomas.</strong> Am. J. Ophthal. 104: 533-538, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3674187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3674187</a>] [<a href="https://doi.org/10.1016/s0002-9394(14)74112-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3674187">Kennedy et al. (1987)</a> emphasized the diagnostic usefulness of ophthalmologic abnormalities in Carney complex. Of 63 patients studied, eyelid myxomas were present in 16%, facial and eyelid lentigines in 70%, and pigmented lesions on the caruncle or conjunctival semilunar fold in 27%. Spotty pigmentation of the skin involved the vermilion border of the lips but only infrequently affected the buccal mucosa. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3674187" 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="Bandelin, P. B., Moreno, A. J., LeMar, H. J., Stratakis, C. A., Oliver, T. G. <strong>The use of positron emission tomography-computed tomography scan in the evaluation of a patient with Carney complex.</strong> J. Clin. Endocr. Metab. 93: 2946-2947, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18685116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18685116</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18685116[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/10.1210/jc.2008-0313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18685116">Bandelin et al. (2008)</a> reported a 32-year-old woman who presented with clinical hypercortisolism, including a 30-lb weight gain, central obesity, oligomenorrhea, hirsutism, and hypertension with hypokalemia. The patient reported easy bruisability, and her surgical history included bilateral breast fibrous adenomas within a myxoid stroma. An adrenal computed tomography (CT) revealed bilateral nodularity; a positron emission tomography (PET)-CT demonstrated F(18)-fluorodeoxyglucose uptake in both adrenals. <a href="#3" class="mim-tip-reference" title="Bandelin, P. B., Moreno, A. J., LeMar, H. J., Stratakis, C. A., Oliver, T. G. <strong>The use of positron emission tomography-computed tomography scan in the evaluation of a patient with Carney complex.</strong> J. Clin. Endocr. Metab. 93: 2946-2947, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18685116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18685116</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18685116[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/10.1210/jc.2008-0313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18685116">Bandelin et al. (2008)</a> stated that, to their knowledge, this was the first report of PET-CT imaging of the adrenal glands in primary pigmented nodular adrenocortical disease. They concluded that PET-CT imaging may be useful in the evaluation of patients with ACTH-independent hypercortisolism, and that, apparently, not all F18-fluorodeoxyglucose-avid adrenal glands contain malignancies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18685116" 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="#30" class="mim-tip-reference" title="Stratakis, C. A., Carney, J. A., Lin, J.-P., Papanicolaou, D. A., Karl, M., Kastner, D. L., Pras, E., Chrousos, G. P. <strong>Carney complex, a familial multiple neoplasia and lentiginosis syndrome: analysis of 11 kindreds and linkage to the short arm of chromosome 2.</strong> J. Clin. Invest. 97: 699-705, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8609225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8609225</a>] [<a href="https://doi.org/10.1172/JCI118467" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8609225">Stratakis et al. (1996)</a> first identified a locus for Carney complex on chromosome 2q, which is now designated CNC2. In a family with Carney complex, <a href="#5" class="mim-tip-reference" title="Basson, C. T., MacRae, C. A., Korf, B., Merliss, A. <strong>Genetic heterogeneity of familial atrial myxoma syndromes (Carney complex).</strong> Am. J. Cardiol. 79: 994-995, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9104925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9104925</a>] [<a href="https://doi.org/10.1016/s0002-9149(97)00033-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9104925">Basson et al. (1997)</a> excluded linkage to the CNC2 locus identified by <a href="#30" class="mim-tip-reference" title="Stratakis, C. A., Carney, J. A., Lin, J.-P., Papanicolaou, D. A., Karl, M., Kastner, D. L., Pras, E., Chrousos, G. P. <strong>Carney complex, a familial multiple neoplasia and lentiginosis syndrome: analysis of 11 kindreds and linkage to the short arm of chromosome 2.</strong> J. Clin. Invest. 97: 699-705, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8609225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8609225</a>] [<a href="https://doi.org/10.1172/JCI118467" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8609225">Stratakis et al. (1996)</a>, indicating genetic heterogeneity of this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8609225+9104925" 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 studies of 4 kindreds with Carney complex, <a href="#12" class="mim-tip-reference" title="Casey, M., Mah, C., Merliss, A. D., Kirschner, L. S., Taymans, S. E., Denio, A. E., Korf, B., Irvine, A. D., Hughes, A., Carney, J. A., Stratakis, C. A., Basson, C. T. <strong>Identification of a novel genetic locus for familial cardiac myxomas and Carney complex.</strong> Circulation 98: 2560-2566, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843463</a>] [<a href="https://doi.org/10.1161/01.cir.98.23.2560" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9843463">Casey et al. (1998)</a> found linkage to a 17-cM locus on chromosome 17q2 (maximal pairwise lod scores of 5.9, 1.5, 1.8, and 2.9 in each family, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9843463" 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 patients with Carney complex, <a href="#17" class="mim-tip-reference" title="Kirschner, L. S., Carney, J. A., Pack, S. D., Taymans, S. E., Giatzakis, C., Cho, Y. S., Cho-Chung, Y. S., Stratakis, C. A. <strong>Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.</strong> Nature Genet. 26: 89-92, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973256</a>] [<a href="https://doi.org/10.1038/79238" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973256">Kirschner et al. (2000)</a> identified mutations in the PRKAR1A gene (<a href="/entry/188830#0001">188830.0001</a>-<a href="/entry/188830#0003">188830.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973256" 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="Kirschner, L. S., Sandrini, F., Monbo, J., Lin, J.-P., Carney, J. A., Stratakis, C. A. <strong>Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the Carney complex.</strong> Hum. Molec. Genet. 9: 3037-3046, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11115848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11115848</a>] [<a href="https://doi.org/10.1093/hmg/9.20.3037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11115848">Kirschner et al. (2000)</a> identified 15 distinct PRKAR1A mutations in affected members of 22 (41%) of 54 kindreds with Carney complex. Six families showed linkage to CNC2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11115848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of 3 unrelated families, <a href="#13" class="mim-tip-reference" title="Casey, M., Vaughan, C. J., He, J., Hatcher, C. J., Winter, J. M., Weremowicz, S., Montgomery, K., Kucherlapati, R., Morton, C. C., Basson, C. T. <strong>Mutations in the protein kinase A R1-alpha regulatory subunit cause familial cardiac myxomas and Carney complex.</strong> J. Clin. Invest. 106: R31-R38, 2000. Note: Erratum: J. Clin. Invest. 107: 235 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10974026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10974026</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10974026[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/10.1172/JCI10841" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10974026">Casey et al. (2000)</a> identified PRKAR1A frameshift mutations resulting in haploinsufficiency of R1-alpha (<a href="/entry/188830#0005">188830.0005</a>-<a href="/entry/188830#0007">188830.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10974026" 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>Loss of Heterozygosity Studies</em></strong></p><p>
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<a href="#35" class="mim-tip-reference" title="Stratakis, C. A., Kirschner, L. S., Taymans, S. E., Tomlinson, I. P. M., Marsh, D. J., Torpy, D. J., Giatzakis, C., Eccles, D. M., Theaker, J., Houlston, R. S., Blouin, J.-L., Antonarakis, S. E., Basson, C. T., Eng, C., Carney, J. A. <strong>Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci.</strong> J. Clin. Endocr. Metab. 83: 2972-2976, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9709978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9709978</a>] [<a href="https://doi.org/10.1210/jcem.83.8.5042" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9709978">Stratakis et al. (1998)</a> noted that the lesions in patients with CNC are similar to those seen in Peutz-Jeghers syndrome and other lentiginosis syndromes. In tumors and cell lines from 2 CNC families excluded from the CNC2 locus, <a href="#35" class="mim-tip-reference" title="Stratakis, C. A., Kirschner, L. S., Taymans, S. E., Tomlinson, I. P. M., Marsh, D. J., Torpy, D. J., Giatzakis, C., Eccles, D. M., Theaker, J., Houlston, R. S., Blouin, J.-L., Antonarakis, S. E., Basson, C. T., Eng, C., Carney, J. A. <strong>Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci.</strong> J. Clin. Endocr. Metab. 83: 2972-2976, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9709978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9709978</a>] [<a href="https://doi.org/10.1210/jcem.83.8.5042" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9709978">Stratakis et al. (1998)</a> found no evidence for loss of heterozygosity (LOH) involving the Peutz-Jeghers syndrome locus on 19p13 (STK11; <a href="/entry/602216">602216</a>) or Cowden syndrome (<a href="/entry/158350">158350</a>) locus on 10q23 (PTEN; <a href="/entry/601728">601728</a>). Studies of 16 additional CNC patients also did not show LOH at these loci in tumors that were histologically identical to those seen in Peutz-Jeghers syndrome. The authors concluded that despite substantial clinical overlap among CNC, Peutz-Jeghers syndrome, and Cowden disease, LOH for the STK11 and PTEN loci is an infrequent event in CNC-related tumors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9709978" 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="Pack, S. D., Kirschner, L. S., Pak, E., Zhuang, Z., Carney, J. A., Stratakis, C. A. <strong>Genetic and histologic studies of somatomammotropic pituitary tumors in patients with the 'complex of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas' (Carney complex).</strong> J. Clin. Endocr. Metab. 85: 3860-3865, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11061550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11061550</a>] [<a href="https://doi.org/10.1210/jcem.85.10.6875" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11061550">Pack et al. (2000)</a> investigated the pituitary glands of 8 patients with CNC1 and acromegaly. Tumor DNA from 4 tumors was used for comparative genomic hybridization. All 8 tumors stained for both growth hormone (GH; <a href="/entry/139250">139250</a>) and prolactin (PRL; <a href="/entry/176760">176760</a>), and some for other hormones, as well as the guanine nucleotide-binding protein alpha-subunit (GNAS; <a href="/entry/139320">139320</a>), which is mutated in McCune-Albright syndrome. Evidence for somatomammotroph hyperplasia was present in proximity to adenoma tissue in 5 of 8 patients; in the remaining 3, only adenoma tissue was available for study. Comparative genomic hybridization showed multiple changes involving losses of chromosomal regions 6q, 7q, 11p, and 11q, and gains of 1pter-p32, 2q35-qter, 9q33-qter, 12q24-qter, 16, 17, 19p, 20p, 20q, 22p and 22q in the most aggressive tumor, an invasive macroadenoma; no chromosomal changes were seen in 3 microadenomas diagnosed prospectively. The authors concluded that, in at least some patients with CNC1, the pituitary gland is characterized by somatotroph hyperplasia, which precedes GH-producing tumor formation, in a pathway similar to that suggested for McCune-Albright syndrome-related pituitary tumors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11061550" 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>To evaluate the role of PKA isozymes on proliferation and cell cycle, <a href="#21" class="mim-tip-reference" title="Nesterova, M., Bossis, I., Wen, F., Horvath, A., Matyakhina, L., Stratakis, C. A. <strong>An immortalized human cell line bearing a PRKAR1A-inactivating mutation: effects of overexpression of the wild-type allele and other protein kinase A subunits.</strong> J. Clin. Endocr. Metab. 93: 565-571, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18056771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18056771</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18056771[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/10.1210/jc.2007-1902" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18056771">Nesterova et al. (2008)</a> studied the association of inactivating mutations of PRKAR1A with tumor formation. A cell line with RI-alpha (encoded by PRKAR1A) haploinsufficiency due to an inactivating PRKAR1A mutation was transfected with constructs encoding PKA subunits. Introduction of PKA subunits led to changes in proliferation and cell cycle: a decrease in aneuploidy and G2/M for the PRKAR1A-transfected cells, and an increase in S phase and aneuploidy for cells transfected with PRKAR2B (<a href="/entry/176912">176912</a>), a known PRKAR1A mutant (RI-alpha), and the PKA catalytic subunit (PRKACA; <a href="/entry/601639">601639</a>). There were alterations in cAMP levels, PK subunit expression, cyclins, and E2F factors; E2F1 (<a href="/entry/189971">189971</a>) was shown to possibly mediate PKA effects on cell cycle by small interfering RNA studies. cAMP levels and constitutive and stimulated cAMP signaling were altered in transfected cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18056771" 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="#7" class="mim-tip-reference" title="Carney, J. A., Gordon, H., Carpenter, P. C., Shenoy, B. V., Go, V. L. W. <strong>The complex of myxomas, spotty pigmentation, and endocrine overactivity.</strong> Medicine 64: 270-283, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4010501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4010501</a>] [<a href="https://doi.org/10.1097/00005792-198507000-00007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4010501">Carney et al. (1985)</a> suggested that the acronym NAME syndrome, as well as the acronym LAMB syndrome (lentigines, atrial myxoma, mucocutaneous myxoma, and blue nevi) reported by <a href="#26" class="mim-tip-reference" title="Rhodes, A. R., Silverman, R. A., Harrist, T. J., Perez-Atayde, A. R. <strong>Mucocutaneous lentigines, cardiomucocutaneous myxomas, and multiple blue nevi: the 'LAMB' syndrome.</strong> J. Am. Acad. Derm. 10: 72-82, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6693605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6693605</a>] [<a href="https://doi.org/10.1016/s0190-9622(84)80047-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6693605">Rhodes et al. (1984)</a>, could represent this pleiotropic syndrome of cutaneous, cardiac, and endocrine involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6693605+4010501" 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="#33" class="mim-tip-reference" title="Stratakis, C. A., Kirschner, L. S., Carney, J. A. <strong>Carney complex: diagnosis and management of the complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas. (Letter)</strong> Am. J. Med. Genet. 80: 183-185, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9805140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9805140</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19981102)80:2<183::aid-ajmg19>3.0.co;2-i" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9805140">Stratakis et al. (1998)</a> suggested that this disorder should be called Carney complex (CNC), as proposed by <a href="#2" class="mim-tip-reference" title="Bain, J. <strong>Carney's complex.</strong> Mayo Clin. Proc. 61: 508 only, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3713260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3713260</a>] [<a href="https://doi.org/10.1016/s0025-6196(12)61989-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3713260">Bain (1986)</a>. In part, this is to differentiate it from the triad of gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma described by <a href="#10" class="mim-tip-reference" title="Carney, J. A. <strong>The triad of gastric epithelioid leiomyosarcoma, pulmonary chondroma, and functioning extra-adrenal paraganglioma: a five-year review.</strong> Medicine 62: 159-169, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6843355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6843355</a>] [<a href="https://doi.org/10.1097/00005792-198305000-00003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6843355">Carney (1983)</a> and sometimes also called Carney syndrome; see <a href="/entry/604287">604287</a>. <a href="#6" class="mim-tip-reference" title="Basson, C. T. <strong>Personal Communication.</strong> New York, N.Y. 1/27/1999."None>Basson (1999)</a> indicated that he and other students of Carney complex have used the symbol CAR for the locus. This symbol has, however, been preempted for other usage. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3713260+9805140+6843355" 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="Salomon, F., Froesch, E. R., Hedinger, C. E. <strong>Familial Cushing's syndrome ('Carney complex'). (Letter)</strong> New Eng. J. Med. 322: 1470 only, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2330018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2330018</a>] [<a href="https://doi.org/10.1056/NEJM199005173222016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2330018">Salomon et al. (1990)</a> noted that <a href="#29" class="mim-tip-reference" title="Schweizer-Cagianut, M., Salomon, F., Hedinger, C. E. <strong>Primary adrenocortical nodular dysplasia with Cushing's syndrome and cardiac myxomas: a peculiar familial disease.</strong> Virchows Arch. A Path. Anat. Histol. 397: 183-192, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7179736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7179736</a>] [<a href="https://doi.org/10.1007/BF00442388" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7179736">Schweizer-Cagianut et al. (1982)</a> provided the first comprehensive description of Carney complex and suggested that it be called the 'Swiss syndrome' to reflect the country in which it was described. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7179736+2330018" 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="#11" class="mim-tip-reference" title="Carney, J. A. <strong>The search for Harvey Cushing's patient, Minnie G., and the cause of her hypercortisolism.</strong> Am. J. Surg. Path. 19: 100-108, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7802129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7802129</a>] [<a href="https://doi.org/10.1097/00000478-199501000-00012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7802129">Carney (1995)</a> described a fascinating search, which was eventually successful, for Harvey Cushing's case of Minnie G., who was reported in his 1912 monograph on the pituitary and its disorders. <a href="#11" class="mim-tip-reference" title="Carney, J. A. <strong>The search for Harvey Cushing's patient, Minnie G., and the cause of her hypercortisolism.</strong> Am. J. Surg. Path. 19: 100-108, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7802129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7802129</a>] [<a href="https://doi.org/10.1097/00000478-199501000-00012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7802129">Carney (1995)</a> postulated that this patient might have had 'his' syndrome. The patient, then 23 years old, had been referred to Cushing at The Johns Hopkins Hospital in 1910. Minnie, whose actual given name was Maita, died in 1958 at the age of 71 years. Having assembled the family pedigree, <a href="#11" class="mim-tip-reference" title="Carney, J. A. <strong>The search for Harvey Cushing's patient, Minnie G., and the cause of her hypercortisolism.</strong> Am. J. Surg. Path. 19: 100-108, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7802129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7802129</a>] [<a href="https://doi.org/10.1097/00000478-199501000-00012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7802129">Carney (1995)</a> could find no evidence of other affected members in the extended family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7802129" 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="#Stratakis1996" class="mim-tip-reference" title="Stratakis, C. A., Jenkins, R. B., Pras, E., Mitsiadis, C. S., Raff, S. B., Stalboerger, P. G., Tsigos, C., Carney, J. A., Chrousos, G. P. <strong>Cytogenetic and microsatellite alterations in tumors from patients with the syndrome of myxomas, spotty skin pigmentation, and endocrine overactivity (Carney complex).</strong> J. Clin. Endocr. Metab. 81: 3607-3614, 1996.">Stratakis et al. (1996)</a>
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Atherton, D. J., Pitcher, D. W., Wells, R. S., MacDonald, D. M.
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<strong>A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxoma: the NAME syndrome.</strong>
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Brit. J. Derm. 103: 421-429, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7437308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7437308</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7437308" 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/10.1111/j.1365-2133.1980.tb07266.x" target="_blank">Full Text</a>]
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Mayo Clin. Proc. 61: 508 only, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3713260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3713260</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3713260" 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/10.1016/s0025-6196(12)61989-2" target="_blank">Full Text</a>]
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Bandelin, P. B., Moreno, A. J., LeMar, H. J., Stratakis, C. A., Oliver, T. G.
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<strong>The use of positron emission tomography-computed tomography scan in the evaluation of a patient with Carney complex.</strong>
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[<a href="https://doi.org/10.1210/jc.2008-0313" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/00005792-198507000-00007" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archderm.122.7.790" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0025-6196(12)61843-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/00005792-198305000-00003" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/00000478-199501000-00012" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1161/01.cir.98.23.2560" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI10841" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19990903)86:1<62::aid-ajmg12>3.0.co;2-1" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1365-2133.1992.tb00680.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0002-9394(14)74112-1" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/79238" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/9.20.3037" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19971231)73:4<369::aid-ajmg1>3.0.co;2-j" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1210/jcem.85.10.6875" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3465316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3465316</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3465316" 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/10.1111/j.1445-5994.1986.tb01196.x" target="_blank">Full Text</a>]
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Young, W. F., Jr., Carney, J. A., Musa, B. U., Wulffraat, N. M., Lens, J. W., Drexhage, H. A.
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<strong>Familial Cushing's syndrome due to primary pigmented nodular adrenocortical disease: reinvestigation 50 years later.</strong>
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New Eng. J. Med. 321: 1659-1664, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2586567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2586567</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2586567" 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/10.1056/NEJM198912143212407" target="_blank">Full Text</a>]
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John A. Phillips, III - updated : 12/10/2010
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John A. Phillips, III - updated : 4/24/2009<br>Cassandra L. Kniffin - reorganized : 10/18/2006<br>Cassandra L. Kniffin - updated : 10/17/2006<br>John A. Phillips, III - updated : 3/20/2002<br>John A. Phillips, III - updated : 10/12/2001<br>George E. Tiller - updated : 3/5/2001<br>Victor A. McKusick - updated : 8/28/2000<br>Victor A. McKusick - updated : 10/26/1999<br>Victor A. McKusick - updated : 9/1/1999<br>Victor A. McKusick - updated : 3/11/1999<br>John A. Phillips, III - updated : 3/3/1999<br>Victor A. McKusick - updated : 2/24/1999<br>Victor A. McKusick - updated : 2/10/1999<br>Victor A. McKusick - updated : 1/25/1999<br>Victor A. McKusick - updated : 12/4/1998<br>Victor A. McKusick - updated : 1/13/1998<br>John A. Phillips, III - updated : 9/11/1997<br>Victor A. McKusick - updated : 6/25/1997<br>John A. Phillips, III - updated : 2/25/1997
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Victor A. McKusick : 6/2/1986
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carol : 04/29/2019
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carol : 06/27/2018<br>carol : 08/18/2016<br>carol : 06/23/2016<br>carol : 5/23/2016<br>terry : 9/14/2012<br>alopez : 12/10/2010<br>terry : 10/13/2010<br>alopez : 4/24/2009<br>carol : 10/18/2006<br>ckniffin : 10/17/2006<br>tkritzer : 8/13/2004<br>tkritzer : 8/13/2004<br>tkritzer : 8/12/2004<br>terry : 8/11/2004<br>carol : 10/18/2002<br>alopez : 3/20/2002<br>alopez : 10/12/2001<br>cwells : 3/6/2001<br>cwells : 3/5/2001<br>cwells : 3/2/2001<br>alopez : 8/30/2000<br>terry : 8/28/2000<br>carol : 11/8/1999<br>terry : 10/26/1999<br>jlewis : 9/23/1999<br>terry : 9/1/1999<br>carol : 5/19/1999<br>carol : 3/11/1999<br>terry : 3/11/1999<br>carol : 3/8/1999<br>mgross : 3/3/1999<br>carol : 2/25/1999<br>carol : 2/24/1999<br>terry : 2/24/1999<br>carol : 2/15/1999<br>mgross : 2/15/1999<br>terry : 2/10/1999<br>carol : 1/25/1999<br>terry : 1/25/1999<br>carol : 12/9/1998<br>dkim : 12/9/1998<br>terry : 12/4/1998<br>terry : 5/12/1998<br>mark : 1/16/1998<br>terry : 1/13/1998<br>terry : 11/11/1997<br>dholmes : 11/11/1997<br>dholmes : 11/11/1997<br>terry : 11/10/1997<br>dholmes : 10/30/1997<br>dholmes : 10/29/1997<br>dholmes : 9/26/1997<br>dholmes : 9/23/1997<br>jenny : 7/1/1997<br>terry : 6/25/1997<br>jenny : 2/25/1997<br>mark : 3/27/1996<br>terry : 3/20/1996<br>joanna : 1/17/1996<br>mark : 11/1/1995<br>carol : 2/7/1995<br>mimadm : 12/2/1994<br>davew : 7/14/1994<br>warfield : 4/21/1994<br>carol : 6/15/1992
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<strong>#</strong> 160980
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CARNEY COMPLEX, TYPE 1; CNC1
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CARNEY MYXOMA-ENDOCRINE COMPLEX<br />
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CARNEY SYNDROME; CAR<br />
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MYXOMA, SPOTTY PIGMENTATION, AND ENDOCRINE OVERACTIVITY<br />
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NAME SYNDROME<br />
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LAMB SYNDROME
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<strong>SNOMEDCT:</strong> 733491005;
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<strong>ORPHA:</strong> 1359;
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<strong>DO:</strong> 0050471;
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17q24.2
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Carney complex, type 1
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160980
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Autosomal dominant
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3
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PRKAR1A
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188830
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<p>A number sign (#) is used with this entry because Carney complex type 1 (CNC1) is caused by heterozygous mutation in the protein kinase A regulatory subunit-1-alpha gene (PRKAR1A; 188830) on chromosome 17q24.</p>
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<p>Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; 131100 and MEN2; 171400). Carney complex shows some similarities to McCune-Albright syndrome (MAS; 174800), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS; 175200). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas (Kirschner et al., 2000; Stratakis et al., 2001). </p><p><strong><em>Genetic Heterogeneity of Carney Complex</em></strong></p><p>
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Carney complex type 2 (CNC2; 605244) has been mapped to chromosome 2p16, indicating genetic heterogeneity.</p><p>See also isolated primary pigmented nodular adrenocortical disease (PPNAD1; 610489) and isolated cardiac myxoma (255960), both of which are manifestations of the Carney complex that can be seen in isolation.</p><p>A family with features of the Carney complex and distal arthrogryposis (608837) associated with a mutation in the MYH8 gene (160741) has also been reported.</p>
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<p>Rees et al. (1973) reported a young man with red hair and fair skin who had multiple lentigines and a left atrial myxoma. Autosomal dominant inheritance was suggested. Follow-up of this patient by Atherton et al. (1980) referred to a palatal tumor with characteristics of myxoid neurofibroma. </p><p>Atherton et al. (1980) reported a 10-year-old boy with cutaneous pigmented lesions, subcutaneous myxoid neurofibromata, and atrial myxoma. At birth, 3 pigmented lesions were noted on the neck, trunk, and thigh; a large number of pigmented lesions developed in the first few weeks of life. He developed several myxoid neurofibromata on the ear, chin, and anterior chest, as well as 2 cardiac atrial myxomas. The boy had blue eyes and hair of a distinctive rust-red color. Both parents had multiple freckles, although less so than the patient. Atherton et al. (1980) suggested the designation 'NAME syndrome' as an acronym for nevi, atrial myxoma, myxoid neurofibromata, and ephelides (freckles). Koopman and Happle (1991) suggested that the acronym NAME could stand for nevi, atrial myxoma, mucinosis of the skin, and endocrine overactivity. </p><p>Proppe and Scully (1980) reported familial occurrence of large-cell calcifying Sertoli cell tumor of the testes and cardiac myxoma. In a follow-up of a family reported by Proppe and Scully (1980), Carney et al. (1986) noted that 2 affected brothers also had nodular adrenocortical hyperplasia. Their mother had skin pigmentation and left atrial myxoma. </p><p>Schweizer-Cagianut et al. (1980) reported a brother and sister with Cushing syndrome associated with primary adrenocortical micronodular dysplasia. The brother also had fibromas of the skin, suggesting the diagnosis of neurofibromatosis type 1 (NF1; 162200), but cafe-au-lait spots were absent. The sister had a documented intracranial bleed, fibromas of the eyelid, and microcalcification of the breasts. Functional tests suggested an intrinsic defect in the adrenals and no hypothalamic-pituitary dysfunction. In a follow-up report of the same family, Schweizer-Cagianut et al. (1982) noted that an older brother had died at age 5 years of atrial myxoma; he had a hemangioma of the right groin. On autopsy at age 36 years, the affected sister was found to have a cardiac myxoma. The fibroma of her eyelid was reinterpreted as a myxoma; both breasts contained multiple small benign fibroadenomas with an unusual myxomatous and vascularized stroma, and she was noted to have had finely freckled pigmentation around the mouth and lips. Schweizer-Cagianut et al. (1982) concluded that the family had a syndrome comprising adrenocortical nodular dysplasia, Cushing syndrome, and myxomatous tumors. </p><p>Barlow et al. (1983) described 2 sisters with the combination of Cushing syndrome, cardiac myxomas, other myxoid tumors, and spotty facial and labial pigmentation.</p><p>Carney et al. (1985) presented evidence for the existence of a distinct familial syndrome consisting of spotty cutaneous pigmentation, myxomas of the heart and elsewhere, and Cushing syndrome resulting from nodular adrenocortical dysplasia. In their family, a brother of the patient had pigmented spots of the face and lips, had multiple nodular and pedunculated myxomas of the skin, and at age 21 was found to have acromegaly caused by pituitary adenoma. Successful hypophysectomy was performed. A single pigmented macule was found in the mouth in only 2 of 40 patients, in contrast to the Peutz-Jeghers syndrome in which buccal spotting is a standard feature. Pigmented skin lesions were identified on the face, eyelids, ears, and vermilion borders of the lips, conjunctiva or sclera, vulva, back of hands and fingers, anal verge, and glans penis. Testicular tumors were identified in 9 of 17 male patients; they were bilateral in 7 patients and multicentric in each affected testis. The testicular tumors were large-cell calcifying Sertoli cell tumor, Leydig cell tumor, or adrenocortical rest tumor. Sexual precocity occurred with the first 2 types. Two patients had an unusual tumor referred to as a 'calcifying pigmented neuroectodermal tumor.' </p><p>Wilsher et al. (1986) described an affected mother and her son and daughter. The mother had left and right atrial myxomata, and the daughter had a left ventricular myxoma, subcutaneous myxoid neurofibromata, and mammary fibroadenosis. Although the son had no evidence of cardiac myxoma, photos demonstrated that all 3 had melanin spots around the lips and over the bridge of the nose. </p><p>Vidaillet et al. (1987) found 5 cases of what they termed 'syndrome myxoma' out of a total of 75 patients with cardiac myxoma seen at the Mayo Clinic between January 1954 and December 1985. They compared 49 cases of syndrome myxoma with cases of sporadic myxoma; the former showed a younger age, a higher frequency of familial occurrence, ventricular location of tumor (13% vs 0%), multiple tumors (50% vs 1%), and recurrent tumor (18% vs 0%). </p><p>Young et al. (1989) provided a 50-year follow-up report of a woman seen at the Mayo Clinic at the age of 17 for Cushing syndrome associated with adrenal dysfunction. The adrenals were mottled brown in appearance and contained nodules composed of large adrenocortical cells with moderately intense brown cytoplasmic pigment. A photograph taken at that time showed spotty pigmentation involving the face and vermilion borders of the lips as well as the chest and shoulders. A fraternal twin of this woman had the same features of Cushing syndrome and spotty facial and labial pigmentation. He was found to have abnormal adrenal glands with 2- to 3-mm reddish brown bulging nodules and coarsely granular brown pigment. Both daughters of the proband had spotty facial pigmentation; 1 also had primary pigmented nodular adrenal cortical disease and a nasopharyngeal schwannoma. Several other members of the family had spotty facial pigmentation. </p><p>Handley et al. (1992) described the Carney syndrome in a mother and her son and daughter. All 3 had varying degrees of centrofacial/mucosal lentigines and cutaneous myxoid tumors. The mother had myxoid mammary fibroadenomatosis and a left atrial myxoma; her daughter developed a prolactin-secreting pituitary adenoma; the son had bilateral large-cell calcified Sertoli cell testicular tumors and an axillary psammomatous melanotic schwannoma. </p><p>In a review of 53 patients with Carney complex from 12 families, Stratakis et al. (1997) identified 2 patients with thyroid carcinoma (1 papillary and 1 follicular; 3.8%) and 1 with a follicular adenoma. Detailed laboratory studies of the thyroid gland of 5 affected adults and 6 affected children showed normal results, but thyroid ultrasonography showed hypoechoic, cystic, solid, or mixed lesions in 3 of the 5 adults (60%) and 4 of the 6 children (67%). Thyroid gland abnormalities were documented in 5 sibs and 1 parent-child pair. Stratakis et al. (1997) concluded that thyroid gland pathology is common in patients with Carney complex, and includes a spectrum of abnormalities ranging from follicular hyperplasia and/or cystic changes to carcinoma. </p><p>Nwokoro et al. (1997) reported an extensively affected family. The proband was a 34-year-old woman with multiple nevi, diffuse facial lentigines, and labial pigmentation present from an early age. Right ventricular myxomas were resected at the age of 30. She also had invasive follicular carcinoma of the thyroid gland, Barrett metaplasia of the esophagus, neoplastic colonic polyps, bipolar affective disorder, and atypical mesenchymal neoplasm of the uterine cervix distinct from the myxoid uterine leiomyoma usually seen in this syndrome. Diagnosis of Carney syndrome was established in her 9-year-old son, and there was a probable diagnosis in her 12-year-old daughter. Various endocrine manifestations occurred in at least 9 relatives in 3 generations. Pituitary microadenoma and calcifying testicular tumor were present in 1 relative each. </p><p>Legius et al. (1998) reported a 41-year-old man with the Carney complex. Clinical features included a pigmented schwannoma on a lumbar nerve root with microscopically demonstrated psammoma bodies (melanocytic schwannoma), atrial myxoma resulting in a cerebellar ischemic stroke, and melanin spots on the vermilion border of the lips, eyelids, and back of the hands. He also had a left nonfunctional adrenal adenoma, macroorchidism, and reduced fertility. </p><p>Goldstein et al. (1999) reported a 40-year-old man who was a member of a family segregating for Carney complex, but was initially not thought to be affected. However, a review of pathologic studies and haplotype analysis based on genotyping studies with 17q2 microsatellites showed that he was affected. He presented with recurrent neurofibroma, a tumor that had not been considered a component of Carney complex. Subsequent review revealed findings consistent with cutaneous myxoma. Echocardiography displayed interatrial septal thickening. In addition, he was noted to have abnormal facial and eyelid hyperpigmented spots with involvement of the buccal mucosa. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Carney et al. (1986) suggested autosomal dominant inheritance. At least one manifestation of the syndrome occurred in 3 successive generations of an affected family. Both males and females were affected, and 5 of 11 children of affected persons had the disorder, although no male-to-male transmission had been reported until the report of Koopman and Happle (1991). </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Diagnosis</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kennedy et al. (1987) emphasized the diagnostic usefulness of ophthalmologic abnormalities in Carney complex. Of 63 patients studied, eyelid myxomas were present in 16%, facial and eyelid lentigines in 70%, and pigmented lesions on the caruncle or conjunctival semilunar fold in 27%. Spotty pigmentation of the skin involved the vermilion border of the lips but only infrequently affected the buccal mucosa. </p><p>Bandelin et al. (2008) reported a 32-year-old woman who presented with clinical hypercortisolism, including a 30-lb weight gain, central obesity, oligomenorrhea, hirsutism, and hypertension with hypokalemia. The patient reported easy bruisability, and her surgical history included bilateral breast fibrous adenomas within a myxoid stroma. An adrenal computed tomography (CT) revealed bilateral nodularity; a positron emission tomography (PET)-CT demonstrated F(18)-fluorodeoxyglucose uptake in both adrenals. Bandelin et al. (2008) stated that, to their knowledge, this was the first report of PET-CT imaging of the adrenal glands in primary pigmented nodular adrenocortical disease. They concluded that PET-CT imaging may be useful in the evaluation of patients with ACTH-independent hypercortisolism, and that, apparently, not all F18-fluorodeoxyglucose-avid adrenal glands contain malignancies. </p>
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</span>
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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>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Stratakis et al. (1996) first identified a locus for Carney complex on chromosome 2q, which is now designated CNC2. In a family with Carney complex, Basson et al. (1997) excluded linkage to the CNC2 locus identified by Stratakis et al. (1996), indicating genetic heterogeneity of this disorder. </p><p>By studies of 4 kindreds with Carney complex, Casey et al. (1998) found linkage to a 17-cM locus on chromosome 17q2 (maximal pairwise lod scores of 5.9, 1.5, 1.8, and 2.9 in each family, respectively). </p>
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</span>
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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>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In patients with Carney complex, Kirschner et al. (2000) identified mutations in the PRKAR1A gene (188830.0001-188830.0003). </p><p>Kirschner et al. (2000) identified 15 distinct PRKAR1A mutations in affected members of 22 (41%) of 54 kindreds with Carney complex. Six families showed linkage to CNC2. </p><p>In affected members of 3 unrelated families, Casey et al. (2000) identified PRKAR1A frameshift mutations resulting in haploinsufficiency of R1-alpha (188830.0005-188830.0007). </p><p><strong><em>Loss of Heterozygosity Studies</em></strong></p><p>
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Stratakis et al. (1998) noted that the lesions in patients with CNC are similar to those seen in Peutz-Jeghers syndrome and other lentiginosis syndromes. In tumors and cell lines from 2 CNC families excluded from the CNC2 locus, Stratakis et al. (1998) found no evidence for loss of heterozygosity (LOH) involving the Peutz-Jeghers syndrome locus on 19p13 (STK11; 602216) or Cowden syndrome (158350) locus on 10q23 (PTEN; 601728). Studies of 16 additional CNC patients also did not show LOH at these loci in tumors that were histologically identical to those seen in Peutz-Jeghers syndrome. The authors concluded that despite substantial clinical overlap among CNC, Peutz-Jeghers syndrome, and Cowden disease, LOH for the STK11 and PTEN loci is an infrequent event in CNC-related tumors. </p><p>Pack et al. (2000) investigated the pituitary glands of 8 patients with CNC1 and acromegaly. Tumor DNA from 4 tumors was used for comparative genomic hybridization. All 8 tumors stained for both growth hormone (GH; 139250) and prolactin (PRL; 176760), and some for other hormones, as well as the guanine nucleotide-binding protein alpha-subunit (GNAS; 139320), which is mutated in McCune-Albright syndrome. Evidence for somatomammotroph hyperplasia was present in proximity to adenoma tissue in 5 of 8 patients; in the remaining 3, only adenoma tissue was available for study. Comparative genomic hybridization showed multiple changes involving losses of chromosomal regions 6q, 7q, 11p, and 11q, and gains of 1pter-p32, 2q35-qter, 9q33-qter, 12q24-qter, 16, 17, 19p, 20p, 20q, 22p and 22q in the most aggressive tumor, an invasive macroadenoma; no chromosomal changes were seen in 3 microadenomas diagnosed prospectively. The authors concluded that, in at least some patients with CNC1, the pituitary gland is characterized by somatotroph hyperplasia, which precedes GH-producing tumor formation, in a pathway similar to that suggested for McCune-Albright syndrome-related pituitary tumors. </p>
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</span>
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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>Pathogenesis</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>To evaluate the role of PKA isozymes on proliferation and cell cycle, Nesterova et al. (2008) studied the association of inactivating mutations of PRKAR1A with tumor formation. A cell line with RI-alpha (encoded by PRKAR1A) haploinsufficiency due to an inactivating PRKAR1A mutation was transfected with constructs encoding PKA subunits. Introduction of PKA subunits led to changes in proliferation and cell cycle: a decrease in aneuploidy and G2/M for the PRKAR1A-transfected cells, and an increase in S phase and aneuploidy for cells transfected with PRKAR2B (176912), a known PRKAR1A mutant (RI-alpha), and the PKA catalytic subunit (PRKACA; 601639). There were alterations in cAMP levels, PK subunit expression, cyclins, and E2F factors; E2F1 (189971) was shown to possibly mediate PKA effects on cell cycle by small interfering RNA studies. cAMP levels and constitutive and stimulated cAMP signaling were altered in transfected cells. </p>
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</span>
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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>Nomenclature</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Carney et al. (1985) suggested that the acronym NAME syndrome, as well as the acronym LAMB syndrome (lentigines, atrial myxoma, mucocutaneous myxoma, and blue nevi) reported by Rhodes et al. (1984), could represent this pleiotropic syndrome of cutaneous, cardiac, and endocrine involvement. </p><p>Stratakis et al. (1998) suggested that this disorder should be called Carney complex (CNC), as proposed by Bain (1986). In part, this is to differentiate it from the triad of gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma described by Carney (1983) and sometimes also called Carney syndrome; see 604287. Basson (1999) indicated that he and other students of Carney complex have used the symbol CAR for the locus. This symbol has, however, been preempted for other usage. </p><p>Salomon et al. (1990) noted that Schweizer-Cagianut et al. (1982) provided the first comprehensive description of Carney complex and suggested that it be called the 'Swiss syndrome' to reflect the country in which it was described. </p>
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</span>
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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>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Carney (1995) described a fascinating search, which was eventually successful, for Harvey Cushing's case of Minnie G., who was reported in his 1912 monograph on the pituitary and its disorders. Carney (1995) postulated that this patient might have had 'his' syndrome. The patient, then 23 years old, had been referred to Cushing at The Johns Hopkins Hospital in 1910. Minnie, whose actual given name was Maita, died in 1958 at the age of 71 years. Having assembled the family pedigree, Carney (1995) could find no evidence of other affected members in the extended family. </p>
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</span>
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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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<h4>
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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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Stratakis et al. (1996)
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</span>
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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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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Atherton, D. J., Pitcher, D. W., Wells, R. S., MacDonald, D. M.
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<strong>A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxoma: the NAME syndrome.</strong>
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Brit. J. Derm. 103: 421-429, 1980.
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[PubMed: 7437308]
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[Full Text: https://doi.org/10.1111/j.1365-2133.1980.tb07266.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bain, J.
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<strong>Carney's complex.</strong>
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Mayo Clin. Proc. 61: 508 only, 1986.
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[PubMed: 3713260]
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[Full Text: https://doi.org/10.1016/s0025-6196(12)61989-2]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bandelin, P. B., Moreno, A. J., LeMar, H. J., Stratakis, C. A., Oliver, T. G.
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<strong>The use of positron emission tomography-computed tomography scan in the evaluation of a patient with Carney complex.</strong>
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J. Clin. Endocr. Metab. 93: 2946-2947, 2008.
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[PubMed: 18685116]
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[Full Text: https://doi.org/10.1210/jc.2008-0313]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Barlow, J. F., Abu-Gazeleh, S., Tam, G. E., Wirtz, P. S., Ofstein, L. C., O'Brien, C. P., Woods, G. L., Drymalski, W. G.
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<strong>Myxoid tumor of the uterus and right atrial myxomas.</strong>
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S. Dakota J. Med. 36: 9-13, 1983.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Basson, C. T., MacRae, C. A., Korf, B., Merliss, A.
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<strong>Genetic heterogeneity of familial atrial myxoma syndromes (Carney complex).</strong>
|
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Am. J. Cardiol. 79: 994-995, 1997.
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[PubMed: 9104925]
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[Full Text: https://doi.org/10.1016/s0002-9149(97)00033-7]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Basson, C. T.
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<strong>Personal Communication.</strong>
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New York, N.Y. 1/27/1999.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Carney, J. A., Gordon, H., Carpenter, P. C., Shenoy, B. V., Go, V. L. W.
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<strong>The complex of myxomas, spotty pigmentation, and endocrine overactivity.</strong>
|
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Medicine 64: 270-283, 1985.
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[PubMed: 4010501]
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[Full Text: https://doi.org/10.1097/00005792-198507000-00007]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Carney, J. A., Headington, J. T., Su, W. P. D.
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<strong>Cutaneous myxomas: a major component of the complex of myxomas, spotty pigmentation, and endocrine overactivity.</strong>
|
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Arch. Derm. 122: 790-798, 1986.
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[PubMed: 3729510]
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[Full Text: https://doi.org/10.1001/archderm.122.7.790]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Carney, J. A., Hruska, H. S., Beauchamp, G. D., Gordon, H.
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<strong>Dominant inheritance of the complex of myxomas, spotty pigmentation, and endocrine overactivity.</strong>
|
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Mayo Clin. Proc. 61: 165-172, 1986.
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[PubMed: 3945116]
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[Full Text: https://doi.org/10.1016/s0025-6196(12)61843-6]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Carney, J. A.
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<strong>The triad of gastric epithelioid leiomyosarcoma, pulmonary chondroma, and functioning extra-adrenal paraganglioma: a five-year review.</strong>
|
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Medicine 62: 159-169, 1983.
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[PubMed: 6843355]
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[Full Text: https://doi.org/10.1097/00005792-198305000-00003]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Carney, J. A.
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<strong>The search for Harvey Cushing's patient, Minnie G., and the cause of her hypercortisolism.</strong>
|
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Am. J. Surg. Path. 19: 100-108, 1995.
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[PubMed: 7802129]
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[Full Text: https://doi.org/10.1097/00000478-199501000-00012]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Casey, M., Mah, C., Merliss, A. D., Kirschner, L. S., Taymans, S. E., Denio, A. E., Korf, B., Irvine, A. D., Hughes, A., Carney, J. A., Stratakis, C. A., Basson, C. T.
|
|
<strong>Identification of a novel genetic locus for familial cardiac myxomas and Carney complex.</strong>
|
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Circulation 98: 2560-2566, 1998.
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[PubMed: 9843463]
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[Full Text: https://doi.org/10.1161/01.cir.98.23.2560]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Casey, M., Vaughan, C. J., He, J., Hatcher, C. J., Winter, J. M., Weremowicz, S., Montgomery, K., Kucherlapati, R., Morton, C. C., Basson, C. T.
|
|
<strong>Mutations in the protein kinase A R1-alpha regulatory subunit cause familial cardiac myxomas and Carney complex.</strong>
|
|
J. Clin. Invest. 106: R31-R38, 2000. Note: Erratum: J. Clin. Invest. 107: 235 only, 2001.
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[PubMed: 10974026]
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[Full Text: https://doi.org/10.1172/JCI10841]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Goldstein, M. M., Casey, M., Carney, J. A., Basson, C. T.
|
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<strong>Molecular genetic diagnosis of the familial myxoma syndrome (Carney complex).</strong>
|
|
Am. J. Med. Genet. 86: 62-65, 1999.
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[PubMed: 10440831]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(19990903)86:1<62::aid-ajmg12>3.0.co;2-1]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Handley, J., Carson, D., Sloan, J., Walsh, M., Thornton, C., Hadden, D., Bingham, E. A.
|
|
<strong>Multiple lentigines, myxoid tumours and endocrine overactivity; four cases of Carney's complex.</strong>
|
|
Brit. J. Derm. 126: 367-371, 1992.
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[PubMed: 1571257]
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[Full Text: https://doi.org/10.1111/j.1365-2133.1992.tb00680.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kennedy, R. H., Waller, R. R., Carney, J. A.
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<strong>Ocular pigmented spots and eyelid myxomas.</strong>
|
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Am. J. Ophthal. 104: 533-538, 1987.
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[PubMed: 3674187]
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[Full Text: https://doi.org/10.1016/s0002-9394(14)74112-1]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kirschner, L. S., Carney, J. A., Pack, S. D., Taymans, S. E., Giatzakis, C., Cho, Y. S., Cho-Chung, Y. S., Stratakis, C. A.
|
|
<strong>Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.</strong>
|
|
Nature Genet. 26: 89-92, 2000.
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[PubMed: 10973256]
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[Full Text: https://doi.org/10.1038/79238]
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</p>
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</li>
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<li>
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<strong>Thyroid gland abnormalities in patients with the syndrome of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas (Carney complex).</strong>
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Stratakis, C. A., Jenkins, R. B., Pras, E., Mitsiadis, C. S., Raff, S. B., Stalboerger, P. G., Tsigos, C., Carney, J. A., Chrousos, G. P.
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<strong>Cytogenetic and microsatellite alterations in tumors from patients with the syndrome of myxomas, spotty skin pigmentation, and endocrine overactivity (Carney complex).</strong>
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<strong>A familial syndrome of cardiac myxomas, myxoid neurofibromata, cutaneous pigmented lesions, and endocrine abnormalities.</strong>
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Young, W. F., Jr., Carney, J. A., Musa, B. U., Wulffraat, N. M., Lens, J. W., Drexhage, H. A.
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<strong>Familial Cushing's syndrome due to primary pigmented nodular adrenocortical disease: reinvestigation 50 years later.</strong>
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John A. Phillips, III - updated : 12/10/2010<br>John A. Phillips, III - updated : 4/24/2009<br>Cassandra L. Kniffin - reorganized : 10/18/2006<br>Cassandra L. Kniffin - updated : 10/17/2006<br>John A. Phillips, III - updated : 3/20/2002<br>John A. Phillips, III - updated : 10/12/2001<br>George E. Tiller - updated : 3/5/2001<br>Victor A. McKusick - updated : 8/28/2000<br>Victor A. McKusick - updated : 10/26/1999<br>Victor A. McKusick - updated : 9/1/1999<br>Victor A. McKusick - updated : 3/11/1999<br>John A. Phillips, III - updated : 3/3/1999<br>Victor A. McKusick - updated : 2/24/1999<br>Victor A. McKusick - updated : 2/10/1999<br>Victor A. McKusick - updated : 1/25/1999<br>Victor A. McKusick - updated : 12/4/1998<br>Victor A. McKusick - updated : 1/13/1998<br>John A. Phillips, III - updated : 9/11/1997<br>Victor A. McKusick - updated : 6/25/1997<br>John A. Phillips, III - updated : 2/25/1997
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