2735 lines
172 KiB
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2735 lines
172 KiB
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Entry
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- #138800 - GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS; MNG1
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- OMIM
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<p>
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<span class="h4">#138800</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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<li role="presentation">
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<a href="/clinicalSynopsis/138800"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS138800"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</h4>
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS" 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=20371&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/NBK196157/" 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/8492" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=138800[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=276399" 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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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0050489" 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/138800" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0050489" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</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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<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>ORPHA:</strong> 276399<br />
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<strong>DO:</strong> 0050489<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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138800
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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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GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS; MNG1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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GOITER, NONTOXIC, WITH INTRATHYROIDAL CALCIFICATION<br />
|
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MULTINODULAR GOITER, ADOLESCENT<br />
|
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EUTHYROID GOITER<br />
|
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SIMPLE GOITER
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/14/500?start=-3&limit=10&highlight=500">
|
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14q32.13
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/138800"> 138800 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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DICER1
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/606241"> 606241 </a>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/138800" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS138800" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/138800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/138800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> ENDOCRINE FEATURES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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- Euthyroid multinodular goiter <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000866" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000866</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000866" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000866</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> NEOPLASIA </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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|
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- Papillary thyroid carcinoma (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1336196002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1336196002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/255029007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">255029007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0238463&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0238463</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002895" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002895</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002895" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002895</a>]</span><br /> -
|
|
Sertoli-Leydig cell ovarian tumors may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3149312&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3149312</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<span class="mim-font">
|
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|
|
- Age on onset - adolescence<br />
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|
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</span>
|
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</div>
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</div>
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|
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
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|
|
- Caused by mutation in the homolog of the Drosophila DICER 1 gene (DICER1, <a href="/entry/606241#0007">606241.0007</a>).<br />
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|
|
</span>
|
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</div>
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</div>
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</div>
|
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|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
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|
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|
|
|
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|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
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|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Goiter, multinodular
|
|
- <a href="/phenotypicSeries/PS138800">PS138800</a>
|
|
- 3 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/833?start=-3&limit=10&highlight=833"> 3q26.1-q26.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606082"> Goiter, multinodular, 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606082"> 606082 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606082"> MNG3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606082"> 606082 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/500?start=-3&limit=10&highlight=500"> 14q32.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138800"> Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138800"> 138800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606241"> DICER1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606241"> 606241 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/7?start=-3&limit=10&highlight=7"> Xp22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300273"> Goiter, multinodular, 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300273"> 300273 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300273"> MNG2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300273"> 300273 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
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|
|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
|
|
<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
|
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|
|
<div id="mimTextFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because susceptibility to multinodular goiter-1 (MNG1) with or without Sertoli-Leydig cell tumors is caused by heterozygous mutation in the DICER1 gene (<a href="/entry/606241">606241</a>) on chromosome 14q32.</p><p>See also pleuropulmonary blastoma (PPB; <a href="/entry/601200">601200</a>), which is a tumor predisposition syndrome, also caused by heterozygous mutation in the DICER1 gene.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
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|
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|
|
<div>
|
|
<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
<div id="mimDescriptionFold" class="collapse in ">
|
|
<span class="mim-text-font">
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<p>Multinodular goiter (MNG) is a common disorder characterized by nodular enlargement of the thyroid gland. In MNG1, some individuals may also develop Sertoli-Leydig cell tumors, usually of the ovary (summary by <a href="#10" class="mim-tip-reference" title="Rio Frio, T., Bahubeshi, A., Kanellopoulou, C., Hamel, N., Niedziela, M., Sabbaghian, N., Pouchet, C., Gilbert, L., O'Brien, P. K., Serfas, K., Broderick, P., Houlston, R. S., and 13 others. <strong>DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.</strong> J.A.M.A. 305: 68-77, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21205968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21205968</a>] [<a href="https://doi.org/10.1001/jama.2010.1910" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21205968">Rio Frio et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21205968" 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 Multinodular Goiter</em></strong></p><p>
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Other MNG loci map to chromosome Xp22 (MNG2; <a href="/entry/300273">300273</a>) and chromosome 3q26 (MNG3; <a href="/entry/606082">606082</a>).</p>
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<p><a href="#6" class="mim-tip-reference" title="Murray, I. P., Thomson, J. A., McGirr, E. M., MacDonald, E. M., Kennedy, J. S., McLennan, I. <strong>Unusual familial goiter associated with intrathyroidal calcification.</strong> J. Clin. Endocr. 26: 1039-1040, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4162574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4162574</a>] [<a href="https://doi.org/10.1210/jcem-26-10-1039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4162574">Murray et al. (1966)</a> described a family in which members of 5 generations had nontoxic goiter appearing in the early teens. Calcification and firm, nodular consistency were unusual features. None of the known defects in thyroid hormonogenesis could be demonstrated. Radioactive iodine studies showed increased thyroid avidity and rapid turnover. No certain male-to-male transmission was observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4162574" 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="#5" class="mim-tip-reference" title="Jensen, R. D., Norris, H. J., Fraumeni, J. F., Jr. <strong>Familial arrhenoblastoma and thyroid adenoma.</strong> Cancer 33: 218-223, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4358956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4358956</a>] [<a href="https://doi.org/10.1002/1097-0142(197401)33:1<218::aid-cncr2820330132>3.0.co;2-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4358956">Jensen et al. (1974)</a> described ovarian tumors in a mother and 2 daughters. The tumor proved to be arrhenoblastoma, secreting androgens, in the 2 daughters. Thyroid adenomas occurred in several members of the family and were found to be associated frequently with ovarian arrhenoblastoma in young women surveyed separately. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4358956" 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="#9" class="mim-tip-reference" title="O'Brien, P. K., Wilansky, D. L. <strong>Familial thyroid nodulation and arrhenoblastoma.</strong> Am. J. Clin. Path. 75: 578-581, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6261577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6261577</a>] [<a href="https://doi.org/10.1093/ajcp/75.4.578" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6261577">O'Brien and Wilansky (1981)</a> described a family in which the 16-year-old proband had a nodular thyroid and a functioning ovarian arrhenoblastoma. Males and females to a total of 6 in 4 generations were known to have nodular thyroids. The disorder was apparently transmitted through an unaffected male. The authors raised the question of testicular tumors in males with the gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6261577" 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="Couch, R. M., Hughes, I. A., DeSa, D. J., Schiffrin, A., Guyda, H., Winter, J. S. D. <strong>An autosomal dominant form of adolescent multinodular goiter.</strong> Am. J. Hum. Genet. 39: 811-816, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3799599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3799599</a>]" pmid="3799599">Couch et al. (1986)</a> observed a Canadian family in which 18 members had a form of euthyroid adolescent multinodular goiter. Histologic study showed multiple adenomata with areas of epithelial hyperplasia, hemorrhage, and calcification. In 2, there were focal areas of epithelial hyperplasia reminiscent of low-grade papillary carcinoma (see <a href="/entry/188550">188550</a>). The family was later studied by <a href="#1" class="mim-tip-reference" title="Bignell, G. R., Canzian, F., Shayeghi, M., Stark, M., Shugart, Y. Y., Biggs, P., Mangion, J., Hamoudi, R., Rosenblatt, J., Buu, P., Sun, S., Stoffer, S. S., Goldgar, D. E., Romeo, G., Houlston, R. S., Narod, S. A., Stratton, M. R., Foulkes, W. D. <strong>Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer.</strong> Am. J. Hum. Genet. 61: 1123-1130, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9345104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9345104</a>] [<a href="https://doi.org/10.1086/301610" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9345104">Bignell et al. (1997)</a> (see MAPPING). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3799599+9345104" 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="Druker, H. A., Kasprzak, L., Begin, L. R., Jothy, S., Narod, S. A., Foulkes, W. D. <strong>Family with Graves disease, multinodular goiter, nonmedullary thyroid carcinoma, and alveolar rhabdomyosarcoma.</strong> Am. J. Med. Genet. 72: 30-33, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9295070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9295070</a>]" pmid="9295070">Druker et al. (1997)</a> reported a family of Ashkenazi Jewish descent in which 7 individuals had benign and/or malignant thyroid tumors. The proband was diagnosed with nodular hyperplasia and superimposed well-differentiated localized follicular carcinoma of the thyroid at age 17. Her father also had multinodular goiter and was later diagnosed with well-differentiated follicular carcinoma. Three of the proband's sibs had thyroid conditions, including 2 with multinodular goiter and 1 with an enlarged thyroid; 1 of the sibs died of an alveolar rhabdomyosarcoma at age 20 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9295070" 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="#8" class="mim-tip-reference" title="Niedziela, M. <strong>Virilizing ovarian tumor in a 14-year-old female with a prior familial multinodular goiter.</strong> Pediat. Blood Cancer 51: 543-545, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18570301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18570301</a>] [<a href="https://doi.org/10.1002/pbc.21675" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18570301">Niedziela (2008)</a> reported a 14-year-old girl with an ovarian Sertoli-Leydig cell tumor and high serum testosterone. She presented with intermittent abdominal pain, deepening of voice, and amenorrhea for 4 months. She had a personal and family history of multinodular goiter. After surgery and treatment of both, the patient remained disease-free for 6 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18570301" 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 the family reported by <a href="#3" class="mim-tip-reference" title="Couch, R. M., Hughes, I. A., DeSa, D. J., Schiffrin, A., Guyda, H., Winter, J. S. D. <strong>An autosomal dominant form of adolescent multinodular goiter.</strong> Am. J. Hum. Genet. 39: 811-816, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3799599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3799599</a>]" pmid="3799599">Couch et al. (1986)</a> and <a href="#1" class="mim-tip-reference" title="Bignell, G. R., Canzian, F., Shayeghi, M., Stark, M., Shugart, Y. Y., Biggs, P., Mangion, J., Hamoudi, R., Rosenblatt, J., Buu, P., Sun, S., Stoffer, S. S., Goldgar, D. E., Romeo, G., Houlston, R. S., Narod, S. A., Stratton, M. R., Foulkes, W. D. <strong>Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer.</strong> Am. J. Hum. Genet. 61: 1123-1130, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9345104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9345104</a>] [<a href="https://doi.org/10.1086/301610" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9345104">Bignell et al. (1997)</a>, transmission was consistent with autosomal dominant inheritance with reduced penetrance in males; in 3 instances, unaffected males had daughters with multinodular goiter. One example of male-to-male transmission was noted. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3799599+9345104" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Brix, T. H., Kyvik, K. O., Hegedus, L. <strong>Major role of genes in the etiology of simple goiter in females: a population-based twin study.</strong> J. Clin. Endocr. Metab. 84: 3071-3075, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10487667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10487667</a>] [<a href="https://doi.org/10.1210/jcem.84.9.5958" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10487667">Brix et al. (1999)</a> studied the relative contributions of genetic and environmental factors causing simple goiter in a well-defined population of Danish twins. They performed a historical cohort study of 5,479 same-sex twin pairs born between 1953 and 1972. Concordance rates, tetrachoric correlations, and heritability were determined. The crude probandwise concordance rates were 0.42 (95% confidence interval (CI), 0.26 to 0.59) and 0.13 (95% CI, 0.06 to 0.24) for female monozygotic and female dizygotic pairs, respectively. The age-adjusted cumulative probandwise risk for simple goiter from birth to age 43 years was 0.53 (95% CI, 0.23 to 0.83) for female monozygotic twins and 0.18 (95% CI, 0.05 to 0.35) for female dizygotic twins (P of 0.003). The tetrachoric correlations were substantially higher in monozygotic (0.82; SE, 0.007) than in dizygotic twins (0.47; SE, 0.12). Model-fitting analysis suggested that the heritability of the liability to the development of simple goiter in women is approximately 82%. <a href="#2" class="mim-tip-reference" title="Brix, T. H., Kyvik, K. O., Hegedus, L. <strong>Major role of genes in the etiology of simple goiter in females: a population-based twin study.</strong> J. Clin. Endocr. Metab. 84: 3071-3075, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10487667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10487667</a>] [<a href="https://doi.org/10.1210/jcem.84.9.5958" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10487667">Brix et al. (1999)</a> concluded that the etiology of clinically overt simple goiter is multifactorial. Genetic factors play a major role in the etiology of simple goiter in females, but environmental factors are also of importance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10487667" 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="#1" class="mim-tip-reference" title="Bignell, G. R., Canzian, F., Shayeghi, M., Stark, M., Shugart, Y. Y., Biggs, P., Mangion, J., Hamoudi, R., Rosenblatt, J., Buu, P., Sun, S., Stoffer, S. S., Goldgar, D. E., Romeo, G., Houlston, R. S., Narod, S. A., Stratton, M. R., Foulkes, W. D. <strong>Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer.</strong> Am. J. Hum. Genet. 61: 1123-1130, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9345104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9345104</a>] [<a href="https://doi.org/10.1086/301610" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9345104">Bignell et al. (1997)</a> performed a genomewide linkage scan in a large Canadian family originally reported by <a href="#3" class="mim-tip-reference" title="Couch, R. M., Hughes, I. A., DeSa, D. J., Schiffrin, A., Guyda, H., Winter, J. S. D. <strong>An autosomal dominant form of adolescent multinodular goiter.</strong> Am. J. Hum. Genet. 39: 811-816, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3799599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3799599</a>]" pmid="3799599">Couch et al. (1986)</a> with 18 cases of nontoxic multinodular goiter. They identified a locus on chromosome 14q, designated MNG1 for 'multinodular goiter-1,' with a maximum 2-point lod score of 3.8 at D14S1030 and a multipoint lod score of 4.88, defined by D14S1062 (proximally) and D14S267 (distally). The gene encoding thyroid-stimulating hormone receptor (TSHR; <a href="/entry/603372">603372</a>), which is located at 14q31, was considered a possible candidate gene but was found to be outside the linked region and could be excluded by recombination and sequencing. To determine the role of the MNG1 gene in familial nonmedullary thyroid cancer (NMTC), <a href="#1" class="mim-tip-reference" title="Bignell, G. R., Canzian, F., Shayeghi, M., Stark, M., Shugart, Y. Y., Biggs, P., Mangion, J., Hamoudi, R., Rosenblatt, J., Buu, P., Sun, S., Stoffer, S. S., Goldgar, D. E., Romeo, G., Houlston, R. S., Narod, S. A., Stratton, M. R., Foulkes, W. D. <strong>Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer.</strong> Am. J. Hum. Genet. 61: 1123-1130, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9345104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9345104</a>] [<a href="https://doi.org/10.1086/301610" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9345104">Bignell et al. (1997)</a> studied 37 smaller pedigrees, each containing at least 2 cases of NMTC. Analysis by both parametric and nonparametric methods indicated that only a very small proportion of familial NMTC is attributable to MNG1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3799599+9345104" 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="#7" class="mim-tip-reference" title="Neumann, S., Willgerodt, H., Ackermann, F., Reske, A., Jung, M., Reis, A., Paschke, R. <strong>Linkage of familial euthyroid goiter to the multinodular goiter-1 locus and exclusion of the candidate genes thyroglobulin, thyroperoxidase, and Na+/I- symporter.</strong> J. Clin. Endocr. Metab. 84: 3750-3756, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10523025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10523025</a>] [<a href="https://doi.org/10.1210/jcem.84.10.6023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10523025">Neumann et al. (1999)</a> investigated a patient with a relapsing euthyroid goiter and her family, in which several members had undergone thyroidectomy for euthyroid goiter. Sequence analysis of thyroid peroxidase (TPO; <a href="/entry/606765">606765</a>) and TSHR cDNAs revealed several previously reported polymorphisms. The markers for the thyroglobulin (TG; <a href="/entry/188450">188450</a>), TPO, and sodium-iodide symporter (SLC5A5; <a href="/entry/601843">601843</a>) genes gave 2-point and multipoint lod scores that were negative or less than 1 for all assumed recombination fractions. <a href="#7" class="mim-tip-reference" title="Neumann, S., Willgerodt, H., Ackermann, F., Reske, A., Jung, M., Reis, A., Paschke, R. <strong>Linkage of familial euthyroid goiter to the multinodular goiter-1 locus and exclusion of the candidate genes thyroglobulin, thyroperoxidase, and Na+/I- symporter.</strong> J. Clin. Endocr. Metab. 84: 3750-3756, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10523025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10523025</a>] [<a href="https://doi.org/10.1210/jcem.84.10.6023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10523025">Neumann et al. (1999)</a> concluded that these candidate genes could be excluded as a major cause of the euthyroid goiters in this family. A maximum 2-point lod score of 1.5 at theta of 0.0 was obtained with marker D14S1030, which is close to the MNG1 locus. The authors concluded that the haplotype of markers TSHR, D14S1054, and D14S1030 cosegregates with familial euthyroid goiter, confirming that the MNG1 locus is a positional candidate for nontoxic goiter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10523025" 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 affected members of 5 unrelated families with autosomal dominant multinodular goiter with or without Sertoli-Leydig cell tumors, <a href="#10" class="mim-tip-reference" title="Rio Frio, T., Bahubeshi, A., Kanellopoulou, C., Hamel, N., Niedziela, M., Sabbaghian, N., Pouchet, C., Gilbert, L., O'Brien, P. K., Serfas, K., Broderick, P., Houlston, R. S., and 13 others. <strong>DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.</strong> J.A.M.A. 305: 68-77, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21205968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21205968</a>] [<a href="https://doi.org/10.1001/jama.2010.1910" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21205968">Rio Frio et al. (2011)</a> identified 5 different heterozygous mutations in the DICER1 gene (see, e.g., <a href="/entry/606241#0007">606241.0007</a>-<a href="/entry/606241#0010">606241.0010</a>). Four of the families had previously been reported by <a href="#9" class="mim-tip-reference" title="O'Brien, P. K., Wilansky, D. L. <strong>Familial thyroid nodulation and arrhenoblastoma.</strong> Am. J. Clin. Path. 75: 578-581, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6261577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6261577</a>] [<a href="https://doi.org/10.1093/ajcp/75.4.578" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6261577">O'Brien and Wilansky (1981)</a>, <a href="#8" class="mim-tip-reference" title="Niedziela, M. <strong>Virilizing ovarian tumor in a 14-year-old female with a prior familial multinodular goiter.</strong> Pediat. Blood Cancer 51: 543-545, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18570301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18570301</a>] [<a href="https://doi.org/10.1002/pbc.21675" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18570301">Niedziela (2008)</a>, <a href="#1" class="mim-tip-reference" title="Bignell, G. R., Canzian, F., Shayeghi, M., Stark, M., Shugart, Y. Y., Biggs, P., Mangion, J., Hamoudi, R., Rosenblatt, J., Buu, P., Sun, S., Stoffer, S. S., Goldgar, D. E., Romeo, G., Houlston, R. S., Narod, S. A., Stratton, M. R., Foulkes, W. D. <strong>Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer.</strong> Am. J. Hum. Genet. 61: 1123-1130, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9345104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9345104</a>] [<a href="https://doi.org/10.1086/301610" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9345104">Bignell et al. (1997)</a>, and <a href="#4" class="mim-tip-reference" title="Druker, H. A., Kasprzak, L., Begin, L. R., Jothy, S., Narod, S. A., Foulkes, W. D. <strong>Family with Graves disease, multinodular goiter, nonmedullary thyroid carcinoma, and alveolar rhabdomyosarcoma.</strong> Am. J. Med. Genet. 72: 30-33, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9295070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9295070</a>]" pmid="9295070">Druker et al. (1997)</a>. Studies of both types of tumors from several families showed no loss of heterozygosity at the DICER1 locus. Goiter tissue showed mixed immunostaining results, with some tissues showing no DICER1 protein staining and other tissues showing clear cytoplasmic staining. RNA studies from patient lymphoblasts showed perturbations of miRNA compared to controls, suggesting a dysregulation of gene expression patterns. In particular, LET7A (<a href="/entry/605386">605386</a>) and miR345 were both decreased in DICER1-related goiter tissue. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6261577+9295070+18570301+9345104+21205968" 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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Bignell, G. R., Canzian, F., Shayeghi, M., Stark, M., Shugart, Y. Y., Biggs, P., Mangion, J., Hamoudi, R., Rosenblatt, J., Buu, P., Sun, S., Stoffer, S. S., Goldgar, D. E., Romeo, G., Houlston, R. S., Narod, S. A., Stratton, M. R., Foulkes, W. D.
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<strong>Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer.</strong>
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Am. J. Hum. Genet. 61: 1123-1130, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9345104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9345104</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9345104" 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/10.1086/301610" target="_blank">Full Text</a>]
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Brix, T. H., Kyvik, K. O., Hegedus, L.
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<strong>Major role of genes in the etiology of simple goiter in females: a population-based twin study.</strong>
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J. Clin. Endocr. Metab. 84: 3071-3075, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10487667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10487667</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10487667" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1210/jcem.84.9.5958" target="_blank">Full Text</a>]
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Couch, R. M., Hughes, I. A., DeSa, D. J., Schiffrin, A., Guyda, H., Winter, J. S. D.
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<strong>An autosomal dominant form of adolescent multinodular goiter.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3799599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3799599</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3799599" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Druker, H. A., Kasprzak, L., Begin, L. R., Jothy, S., Narod, S. A., Foulkes, W. D.
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<strong>Family with Graves disease, multinodular goiter, nonmedullary thyroid carcinoma, and alveolar rhabdomyosarcoma.</strong>
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Am. J. Med. Genet. 72: 30-33, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9295070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9295070</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9295070" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Jensen, R. D., Norris, H. J., Fraumeni, J. F., Jr.
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<strong>Familial arrhenoblastoma and thyroid adenoma.</strong>
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Cancer 33: 218-223, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4358956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4358956</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4358956" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/1097-0142(197401)33:1<218::aid-cncr2820330132>3.0.co;2-z" target="_blank">Full Text</a>]
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Murray, I. P., Thomson, J. A., McGirr, E. M., MacDonald, E. M., Kennedy, J. S., McLennan, I.
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<strong>Unusual familial goiter associated with intrathyroidal calcification.</strong>
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J. Clin. Endocr. 26: 1039-1040, 1966.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4162574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4162574</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4162574" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1210/jcem-26-10-1039" target="_blank">Full Text</a>]
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Neumann, S., Willgerodt, H., Ackermann, F., Reske, A., Jung, M., Reis, A., Paschke, R.
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<strong>Linkage of familial euthyroid goiter to the multinodular goiter-1 locus and exclusion of the candidate genes thyroglobulin, thyroperoxidase, and Na+/I- symporter.</strong>
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J. Clin. Endocr. Metab. 84: 3750-3756, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10523025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10523025</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10523025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1210/jcem.84.10.6023" target="_blank">Full Text</a>]
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Niedziela, M.
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<strong>Virilizing ovarian tumor in a 14-year-old female with a prior familial multinodular goiter.</strong>
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Pediat. Blood Cancer 51: 543-545, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18570301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18570301</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18570301" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Familial thyroid nodulation and arrhenoblastoma.</strong>
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Am. J. Clin. Path. 75: 578-581, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6261577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6261577</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6261577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Rio Frio, T., Bahubeshi, A., Kanellopoulou, C., Hamel, N., Niedziela, M., Sabbaghian, N., Pouchet, C., Gilbert, L., O'Brien, P. K., Serfas, K., Broderick, P., Houlston, R. S., and 13 others.
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<strong>DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.</strong>
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J.A.M.A. 305: 68-77, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21205968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21205968</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21205968" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cassandra L. Kniffin - updated : 3/16/2011
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John A. Phillips, III - updated : 10/2/2000<br>John A. Phillips, III - updated : 4/3/2000<br>Victor A. McKusick - updated : 11/26/1997<br>Victor A. McKusick - updated : 10/22/1997
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wwang : 5/23/2011<br>wwang : 5/23/2011<br>terry : 3/25/2011<br>wwang : 3/17/2011<br>ckniffin : 3/16/2011<br>wwang : 10/23/2009<br>carol : 2/16/2006<br>carol : 3/18/2004<br>carol : 7/2/2001<br>carol : 10/18/2000<br>mgross : 10/12/2000<br>terry : 10/2/2000<br>mgross : 5/15/2000<br>terry : 4/3/2000<br>carol : 12/29/1998<br>terry : 12/3/1997<br>terry : 11/26/1997<br>terry : 10/28/1997<br>jenny : 10/24/1997<br>terry : 10/22/1997<br>mimadm : 9/24/1994<br>carol : 7/22/1993<br>supermim : 3/16/1992<br>carol : 2/6/1992<br>supermim : 3/20/1990<br>supermim : 2/8/1990
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<span class="mim-font">
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<strong>#</strong> 138800
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<h3>
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GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS; MNG1
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</h3>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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GOITER, NONTOXIC, WITH INTRATHYROIDAL CALCIFICATION<br />
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MULTINODULAR GOITER, ADOLESCENT<br />
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EUTHYROID GOITER<br />
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SIMPLE GOITER
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 276399;
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<strong>DO:</strong> 0050489;
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<h4>
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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<th>
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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14q32.13
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<span class="mim-font">
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Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
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<span class="mim-font">
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138800
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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<span class="mim-font">
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DICER1
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<span class="mim-font">
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606241
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because susceptibility to multinodular goiter-1 (MNG1) with or without Sertoli-Leydig cell tumors is caused by heterozygous mutation in the DICER1 gene (606241) on chromosome 14q32.</p><p>See also pleuropulmonary blastoma (PPB; 601200), which is a tumor predisposition syndrome, also caused by heterozygous mutation in the DICER1 gene.</p>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Multinodular goiter (MNG) is a common disorder characterized by nodular enlargement of the thyroid gland. In MNG1, some individuals may also develop Sertoli-Leydig cell tumors, usually of the ovary (summary by Rio Frio et al., 2011). </p><p><strong><em>Genetic Heterogeneity of Multinodular Goiter</em></strong></p><p>
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Other MNG loci map to chromosome Xp22 (MNG2; 300273) and chromosome 3q26 (MNG3; 606082).</p>
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<strong>Clinical Features</strong>
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<p>Murray et al. (1966) described a family in which members of 5 generations had nontoxic goiter appearing in the early teens. Calcification and firm, nodular consistency were unusual features. None of the known defects in thyroid hormonogenesis could be demonstrated. Radioactive iodine studies showed increased thyroid avidity and rapid turnover. No certain male-to-male transmission was observed. </p><p>Jensen et al. (1974) described ovarian tumors in a mother and 2 daughters. The tumor proved to be arrhenoblastoma, secreting androgens, in the 2 daughters. Thyroid adenomas occurred in several members of the family and were found to be associated frequently with ovarian arrhenoblastoma in young women surveyed separately. </p><p>O'Brien and Wilansky (1981) described a family in which the 16-year-old proband had a nodular thyroid and a functioning ovarian arrhenoblastoma. Males and females to a total of 6 in 4 generations were known to have nodular thyroids. The disorder was apparently transmitted through an unaffected male. The authors raised the question of testicular tumors in males with the gene. </p><p>Couch et al. (1986) observed a Canadian family in which 18 members had a form of euthyroid adolescent multinodular goiter. Histologic study showed multiple adenomata with areas of epithelial hyperplasia, hemorrhage, and calcification. In 2, there were focal areas of epithelial hyperplasia reminiscent of low-grade papillary carcinoma (see 188550). The family was later studied by Bignell et al. (1997) (see MAPPING). </p><p>Druker et al. (1997) reported a family of Ashkenazi Jewish descent in which 7 individuals had benign and/or malignant thyroid tumors. The proband was diagnosed with nodular hyperplasia and superimposed well-differentiated localized follicular carcinoma of the thyroid at age 17. Her father also had multinodular goiter and was later diagnosed with well-differentiated follicular carcinoma. Three of the proband's sibs had thyroid conditions, including 2 with multinodular goiter and 1 with an enlarged thyroid; 1 of the sibs died of an alveolar rhabdomyosarcoma at age 20 years. </p><p>Niedziela (2008) reported a 14-year-old girl with an ovarian Sertoli-Leydig cell tumor and high serum testosterone. She presented with intermittent abdominal pain, deepening of voice, and amenorrhea for 4 months. She had a personal and family history of multinodular goiter. After surgery and treatment of both, the patient remained disease-free for 6 years. </p>
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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>In the family reported by Couch et al. (1986) and Bignell et al. (1997), transmission was consistent with autosomal dominant inheritance with reduced penetrance in males; in 3 instances, unaffected males had daughters with multinodular goiter. One example of male-to-male transmission was noted. </p><p>Brix et al. (1999) studied the relative contributions of genetic and environmental factors causing simple goiter in a well-defined population of Danish twins. They performed a historical cohort study of 5,479 same-sex twin pairs born between 1953 and 1972. Concordance rates, tetrachoric correlations, and heritability were determined. The crude probandwise concordance rates were 0.42 (95% confidence interval (CI), 0.26 to 0.59) and 0.13 (95% CI, 0.06 to 0.24) for female monozygotic and female dizygotic pairs, respectively. The age-adjusted cumulative probandwise risk for simple goiter from birth to age 43 years was 0.53 (95% CI, 0.23 to 0.83) for female monozygotic twins and 0.18 (95% CI, 0.05 to 0.35) for female dizygotic twins (P of 0.003). The tetrachoric correlations were substantially higher in monozygotic (0.82; SE, 0.007) than in dizygotic twins (0.47; SE, 0.12). Model-fitting analysis suggested that the heritability of the liability to the development of simple goiter in women is approximately 82%. Brix et al. (1999) concluded that the etiology of clinically overt simple goiter is multifactorial. Genetic factors play a major role in the etiology of simple goiter in females, but environmental factors are also of importance. </p>
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</span>
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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>Bignell et al. (1997) performed a genomewide linkage scan in a large Canadian family originally reported by Couch et al. (1986) with 18 cases of nontoxic multinodular goiter. They identified a locus on chromosome 14q, designated MNG1 for 'multinodular goiter-1,' with a maximum 2-point lod score of 3.8 at D14S1030 and a multipoint lod score of 4.88, defined by D14S1062 (proximally) and D14S267 (distally). The gene encoding thyroid-stimulating hormone receptor (TSHR; 603372), which is located at 14q31, was considered a possible candidate gene but was found to be outside the linked region and could be excluded by recombination and sequencing. To determine the role of the MNG1 gene in familial nonmedullary thyroid cancer (NMTC), Bignell et al. (1997) studied 37 smaller pedigrees, each containing at least 2 cases of NMTC. Analysis by both parametric and nonparametric methods indicated that only a very small proportion of familial NMTC is attributable to MNG1. </p><p>Neumann et al. (1999) investigated a patient with a relapsing euthyroid goiter and her family, in which several members had undergone thyroidectomy for euthyroid goiter. Sequence analysis of thyroid peroxidase (TPO; 606765) and TSHR cDNAs revealed several previously reported polymorphisms. The markers for the thyroglobulin (TG; 188450), TPO, and sodium-iodide symporter (SLC5A5; 601843) genes gave 2-point and multipoint lod scores that were negative or less than 1 for all assumed recombination fractions. Neumann et al. (1999) concluded that these candidate genes could be excluded as a major cause of the euthyroid goiters in this family. A maximum 2-point lod score of 1.5 at theta of 0.0 was obtained with marker D14S1030, which is close to the MNG1 locus. The authors concluded that the haplotype of markers TSHR, D14S1054, and D14S1030 cosegregates with familial euthyroid goiter, confirming that the MNG1 locus is a positional candidate for nontoxic goiter. </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>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 affected members of 5 unrelated families with autosomal dominant multinodular goiter with or without Sertoli-Leydig cell tumors, Rio Frio et al. (2011) identified 5 different heterozygous mutations in the DICER1 gene (see, e.g., 606241.0007-606241.0010). Four of the families had previously been reported by O'Brien and Wilansky (1981), Niedziela (2008), Bignell et al. (1997), and Druker et al. (1997). Studies of both types of tumors from several families showed no loss of heterozygosity at the DICER1 locus. Goiter tissue showed mixed immunostaining results, with some tissues showing no DICER1 protein staining and other tissues showing clear cytoplasmic staining. RNA studies from patient lymphoblasts showed perturbations of miRNA compared to controls, suggesting a dysregulation of gene expression patterns. In particular, LET7A (605386) and miR345 were both decreased in DICER1-related goiter tissue. </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>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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<p class="mim-text-font">
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Bignell, G. R., Canzian, F., Shayeghi, M., Stark, M., Shugart, Y. Y., Biggs, P., Mangion, J., Hamoudi, R., Rosenblatt, J., Buu, P., Sun, S., Stoffer, S. S., Goldgar, D. E., Romeo, G., Houlston, R. S., Narod, S. A., Stratton, M. R., Foulkes, W. D.
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<strong>Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer.</strong>
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Am. J. Hum. Genet. 61: 1123-1130, 1997.
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[PubMed: 9345104]
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[Full Text: https://doi.org/10.1086/301610]
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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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Brix, T. H., Kyvik, K. O., Hegedus, L.
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<strong>Major role of genes in the etiology of simple goiter in females: a population-based twin study.</strong>
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J. Clin. Endocr. Metab. 84: 3071-3075, 1999.
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[PubMed: 10487667]
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[Full Text: https://doi.org/10.1210/jcem.84.9.5958]
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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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Couch, R. M., Hughes, I. A., DeSa, D. J., Schiffrin, A., Guyda, H., Winter, J. S. D.
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<strong>An autosomal dominant form of adolescent multinodular goiter.</strong>
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Am. J. Hum. Genet. 39: 811-816, 1986.
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[PubMed: 3799599]
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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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Druker, H. A., Kasprzak, L., Begin, L. R., Jothy, S., Narod, S. A., Foulkes, W. D.
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<strong>Family with Graves disease, multinodular goiter, nonmedullary thyroid carcinoma, and alveolar rhabdomyosarcoma.</strong>
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Am. J. Med. Genet. 72: 30-33, 1997.
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[PubMed: 9295070]
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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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Jensen, R. D., Norris, H. J., Fraumeni, J. F., Jr.
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<strong>Familial arrhenoblastoma and thyroid adenoma.</strong>
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Cancer 33: 218-223, 1974.
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[PubMed: 4358956]
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[Full Text: https://doi.org/10.1002/1097-0142(197401)33:1<218::aid-cncr2820330132>3.0.co;2-z]
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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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Murray, I. P., Thomson, J. A., McGirr, E. M., MacDonald, E. M., Kennedy, J. S., McLennan, I.
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<strong>Unusual familial goiter associated with intrathyroidal calcification.</strong>
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J. Clin. Endocr. 26: 1039-1040, 1966.
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[PubMed: 4162574]
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[Full Text: https://doi.org/10.1210/jcem-26-10-1039]
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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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Neumann, S., Willgerodt, H., Ackermann, F., Reske, A., Jung, M., Reis, A., Paschke, R.
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<strong>Linkage of familial euthyroid goiter to the multinodular goiter-1 locus and exclusion of the candidate genes thyroglobulin, thyroperoxidase, and Na+/I- symporter.</strong>
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J. Clin. Endocr. Metab. 84: 3750-3756, 1999.
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[PubMed: 10523025]
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[Full Text: https://doi.org/10.1210/jcem.84.10.6023]
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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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Niedziela, M.
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<strong>Virilizing ovarian tumor in a 14-year-old female with a prior familial multinodular goiter.</strong>
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Pediat. Blood Cancer 51: 543-545, 2008.
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[PubMed: 18570301]
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[Full Text: https://doi.org/10.1002/pbc.21675]
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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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O'Brien, P. K., Wilansky, D. L.
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<strong>Familial thyroid nodulation and arrhenoblastoma.</strong>
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Am. J. Clin. Path. 75: 578-581, 1981.
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[PubMed: 6261577]
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[Full Text: https://doi.org/10.1093/ajcp/75.4.578]
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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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Rio Frio, T., Bahubeshi, A., Kanellopoulou, C., Hamel, N., Niedziela, M., Sabbaghian, N., Pouchet, C., Gilbert, L., O'Brien, P. K., Serfas, K., Broderick, P., Houlston, R. S., and 13 others.
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<strong>DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.</strong>
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J.A.M.A. 305: 68-77, 2011.
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[PubMed: 21205968]
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[Full Text: https://doi.org/10.1001/jama.2010.1910]
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Cassandra L. Kniffin - updated : 3/16/2011<br>John A. Phillips, III - updated : 10/2/2000<br>John A. Phillips, III - updated : 4/3/2000<br>Victor A. McKusick - updated : 11/26/1997<br>Victor A. McKusick - updated : 10/22/1997
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Victor A. McKusick : 6/4/1986
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