2453 lines
163 KiB
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2453 lines
163 KiB
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- #601200 - PLEUROPULMONARY BLASTOMA; PPB
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- OMIM
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<p>
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<span class="h4">#601200</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/601200"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=PLEUROPULMONARY BLASTOMA" 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="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=20598&Typ=Pat" title="DICER1 tumor-predisposition syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">DICER1 tumor-predispositio… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10846&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Pleuropulmonary blastoma </a></div>
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</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/5804" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/dicer1-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601200[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=284343" title="DICER1 tumor-predisposition syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">DICER1 tumor-predispositio…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=64742" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Pleuropulmonary blastoma</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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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:0081063" 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/601200" 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:0081063" 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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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 702411003<br />
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<strong>ORPHA:</strong> 284343, 64742<br />
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<strong>DO:</strong> 0081063<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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601200
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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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PLEUROPULMONARY BLASTOMA; PPB
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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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PPB FAMILIAL TUMOR AND DYSPLASIA SYNDROME; PPBFTDS
|
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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">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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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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Pleuropulmonary blastoma
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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/601200"> 601200 </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/601200" 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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<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/601200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/601200" 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> RESPIRATORY </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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<div>
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<span class="h5 mim-font">
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<em> Lung </em>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
|
- Lung tumor with mesenchymal components <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3275889&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3275889</a>]</span><br /> -
|
|
Pleuropulmonary blastoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/128763002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">128763002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/707670009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">707670009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/702411003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">702411003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1266144&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1266144</a>, <a href="https://bioportal.bioontology.org/search?q=C3839822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3839822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100528" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100528</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100528" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100528</a>]</span><br /> -
|
|
Lung cysts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275504005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275504005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0546483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0546483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032445" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032445</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</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> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cystic nephroma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/128757006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">128757006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1266138&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1266138</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034836" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034836</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034836" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034836</a>]</span><br />
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|
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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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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Goiter may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3275887&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3275887</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3716002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3716002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E04.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E04.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/240.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">240.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000853" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000853</a>]</span><br />
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|
|
|
</span>
|
|
</div>
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEOPLASIA </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
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|
|
- Associated with other malignancies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3275888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3275888</a>]</span><br /> -
|
|
Rhabdomyosarcoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30924005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30924005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302847003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302847003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035412&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035412</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002859" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002859</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002859" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002859</a>]</span><br /> -
|
|
Medulloblastoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156923005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156923005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/443333004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">443333004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025149&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025149</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002885" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002885</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002885" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002885</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>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
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|
|
- Onset before age 5 years<br /> -
|
|
Decreased penetrance<br />
|
|
|
|
</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> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
|
<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#0001">606241.0001</a>)<br />
|
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|
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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>
|
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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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<br />
|
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</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">
|
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div id="mimTextFold" class="collapse in ">
|
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<span class="mim-text-font">
|
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<p>A number sign (#) is used with this entry because pleuropulmonary blastoma (PPB) can be caused by heterozygous mutation in the DICER1 gene (<a href="/entry/606241">606241</a>) on chromosome 14q32.</p><p>Multinodular goiter-1 with or without Sertoli-Leydig cell tumors (MNG1; <a href="/entry/138800">138800</a>) is also caused by heterozygous mutation in the DICER1 gene.</p>
|
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</span>
|
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<div>
|
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<br />
|
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</div>
|
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</div>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
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<p>Pleuropulmonary blastoma (PPB) is a rare pediatric tumor of the lung that arises during fetal lung development and is often part of an inherited cancer syndrome (<a href="#5" class="mim-tip-reference" title="Hill, D. A., Ivanovich, J., Priest, J. R., Gurnett, C. A., Dehner, L. P., Desruisseau, D., Jarzembowski, J. A., Wilkenheiser-Brokamp, K. A., Suarez, B. K., Whelan, A. J., Williams, G., Bracamontes, D., Messinger, Y., Goodfellow, P. J. <strong>DICER1 mutations in familial pleuropulmonary blastoma.</strong> Science 325: 965 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19556464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19556464</a>] [<a href="https://doi.org/10.1126/science.1174334" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19556464">Hill et al., 2009</a>). PPBs contain both epithelial and mesenchymal cells. Early in tumorigenesis, cysts form in lung airspaces, and these cysts are lined with benign-appearing epithelium. Mesenchymal cells susceptible to malignant transformation reside within the cyst walls and form a dense 'cambium' layer beneath the epithelial lining. In a subset of patients, overgrowth of the mesenchymal cells produces a sarcoma, a transition that is associated with a poorer prognosis (<a href="#6" class="mim-tip-reference" title="Priest, J. R., Watterson, J., Strong, L., Huff, V., Woods, W. G., Byrd, R. L., Friend, S. H., Newsham, I., Amylon, M. D., Pappo, A., Mahoney, D. H., Langston, C., Heyn, R., Kohut, G., Freyer, D. R., Bostrom, B., Richardson, M. S., Barredo, J., Dehner, L. P. <strong>Pleuropulmonary blastoma: a marker for familial disease.</strong> J. Pediat. 128: 220-224, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8636815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8636815</a>] [<a href="https://doi.org/10.1016/s0022-3476(96)70393-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8636815">Priest et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19556464+8636815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In approximately 35% of families in which a child has PPB, the patient or a family member manifests 1 or more additional conditions from an unusual array of dysontogenetic-dysplastic and malignant conditions, known as the 'PPB family tumor and dysplasia syndrome' (PPBFTDS). Cystic nephroma, which are benign lesions of the kidney, are found in 9 to 10% of family members affected by PPB (summary by <a href="#1" class="mim-tip-reference" title="Bahubeshi, A., Bal, N., Rio Frio, T., Hamel, N., Pouchet, C., Yilmaz, A., Bouron-Dal Soglio, D., Williams, G. M., Tischkowitz, M., Priest, J. R., Foulkes, W. D. <strong>Germline DICER1 mutations and familial cystic nephroma.</strong> J. Med. Genet. 47: 863-866, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21036787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21036787</a>] [<a href="https://doi.org/10.1136/jmg.2010.081216" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21036787">Bahubeshi et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21036787" 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>Larger studies have shown that DICER1 mutations are associated with a variety of tumor types, indicating that this disorder can be considered a tumor predisposition syndrome (summary by <a href="#7" class="mim-tip-reference" title="Slade, I., Bacchelli, C., Davies, H., Murray, A., Abbaszadeh, F., Hanks, S., Barfoot, R., Burke, A., Chisholm, J., Hewitt, M., Jenkinson, H., King, D., and 20 others. <strong>DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome.</strong> J. Med. Genet. 48: 273-278, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21266384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21266384</a>] [<a href="https://doi.org/10.1136/jmg.2010.083790" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21266384">Slade et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21266384" 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="#6" class="mim-tip-reference" title="Priest, J. R., Watterson, J., Strong, L., Huff, V., Woods, W. G., Byrd, R. L., Friend, S. H., Newsham, I., Amylon, M. D., Pappo, A., Mahoney, D. H., Langston, C., Heyn, R., Kohut, G., Freyer, D. R., Bostrom, B., Richardson, M. S., Barredo, J., Dehner, L. P. <strong>Pleuropulmonary blastoma: a marker for familial disease.</strong> J. Pediat. 128: 220-224, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8636815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8636815</a>] [<a href="https://doi.org/10.1016/s0022-3476(96)70393-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8636815">Priest et al. (1996)</a> collected information on the families of 45 children with pleuropulmonary blastoma (PPB) as well as on the children themselves. Pleuropulmonary blastoma is a rare and distinct intrathoracic neoplasm. The tumor arises from the lung, pleura, or both, appears to be purely mesenchymal in phenotype, and usually occurs in children younger than 5 years of age. It lacks malignant epithelial elements, a feature that distinguishes it from the classic adult-type pulmonary blastoma, a neoplasm that has a biphasic histologic pattern in most cases. In 12 of the 45 patients an association was found between PPB and other dysplasias, neoplasias, or malignancies in the patients or in their young relatives. The diseases found in association included other cases of PPB, pulmonary cysts, cystic nephromas, sarcomas, medulloblastomas, thyroid dysplasias, and neoplasias, malignant germ cell tumors, Hodgkin disease, leukemia, and Langerhans cell histiocytosis. Abnormalities of p53 (<a href="/entry/191170">191170</a>), WT1 (<a href="/entry/607102">607102</a>), and WT2 (<a href="/entry/194071">194071</a>) were not found in preliminary investigations. <a href="#6" class="mim-tip-reference" title="Priest, J. R., Watterson, J., Strong, L., Huff, V., Woods, W. G., Byrd, R. L., Friend, S. H., Newsham, I., Amylon, M. D., Pappo, A., Mahoney, D. H., Langston, C., Heyn, R., Kohut, G., Freyer, D. R., Bostrom, B., Richardson, M. S., Barredo, J., Dehner, L. P. <strong>Pleuropulmonary blastoma: a marker for familial disease.</strong> J. Pediat. 128: 220-224, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8636815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8636815</a>] [<a href="https://doi.org/10.1016/s0022-3476(96)70393-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8636815">Priest et al. (1996)</a> suggested that the occurrence of PPB points to a constitutional and heritable predisposition to dysplastic or neoplastic disease and that such patients and their families should be investigated accordingly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8636815" 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>Clinical Variability</em></strong></p><p>
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<a href="#2" class="mim-tip-reference" title="Delahunt, B., Thomson, K. J., Ferguson, A. F., Neale, T. J., Meffan, P. J., Nacey, J. N. <strong>Familial cystic nephroma and pleuropulmonary blastoma.</strong> Cancer 71: 1338-1342, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8382107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8382107</a>] [<a href="https://doi.org/10.1002/1097-0142(19930215)71:4<1338::aid-cncr2820710427>3.0.co;2-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8382107">Delahunt et al. (1993)</a> reported a family in which a 27-month-old girl and a 31-month-old boy underwent nephrectomy for cystic nephroma and were free of disease in the contralateral kidney 16 and 14 years later, respectively. Their 28-month-old sister underwent pleuropneumonectomy with postoperative chemotherapy for PPB and died of recurrent disease 9 months later. <a href="#2" class="mim-tip-reference" title="Delahunt, B., Thomson, K. J., Ferguson, A. F., Neale, T. J., Meffan, P. J., Nacey, J. N. <strong>Familial cystic nephroma and pleuropulmonary blastoma.</strong> Cancer 71: 1338-1342, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8382107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8382107</a>] [<a href="https://doi.org/10.1002/1097-0142(19930215)71:4<1338::aid-cncr2820710427>3.0.co;2-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8382107">Delahunt et al. (1993)</a> postulated the inheritance of a germline mutation predisposing to the development of these tumors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8382107" 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="Hill, D. A., Ivanovich, J., Priest, J. R., Gurnett, C. A., Dehner, L. P., Desruisseau, D., Jarzembowski, J. A., Wilkenheiser-Brokamp, K. A., Suarez, B. K., Whelan, A. J., Williams, G., Bracamontes, D., Messinger, Y., Goodfellow, P. J. <strong>DICER1 mutations in familial pleuropulmonary blastoma.</strong> Science 325: 965 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19556464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19556464</a>] [<a href="https://doi.org/10.1126/science.1174334" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19556464">Hill et al. (2009)</a> studied 11 families with more than 1 affected member. Individuals were classified as affected if they had either PPB, lung cysts, cystic nephroma, or embryonal rhabdomyosarcoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19556464" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Bahubeshi, A., Bal, N., Rio Frio, T., Hamel, N., Pouchet, C., Yilmaz, A., Bouron-Dal Soglio, D., Williams, G. M., Tischkowitz, M., Priest, J. R., Foulkes, W. D. <strong>Germline DICER1 mutations and familial cystic nephroma.</strong> J. Med. Genet. 47: 863-866, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21036787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21036787</a>] [<a href="https://doi.org/10.1136/jmg.2010.081216" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21036787">Bahubeshi et al. (2010)</a> reported 2 unrelated families with cystic nephroma with or without PPB. Cystic nephroma is a benign kidney tumor with differentiated septa and without blastemal elements. In 1 family, a 7-month-old boy developed cystic nephroma and was alive at age 5 years. His sister, who was diagnosed with cystic nephroma and PPB at age 4 years, died at age 5 years. In addition, their mother and 2 additional maternal relatives had goiter. In a second family, 2 brothers diagnosed with cystic nephroma at ages 2 and 3 years were still alive at ages 4 and 7 years, respectively. CT scan in 1 brother showed 2 lung cysts, likely a subtle manifestation. Genetic analysis identified a different heterozygous mutation in the DICER1 gene in each family (see, e.g., <a href="/entry/606241#0006">606241.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21036787" 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="Slade, I., Bacchelli, C., Davies, H., Murray, A., Abbaszadeh, F., Hanks, S., Barfoot, R., Burke, A., Chisholm, J., Hewitt, M., Jenkinson, H., King, D., and 20 others. <strong>DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome.</strong> J. Med. Genet. 48: 273-278, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21266384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21266384</a>] [<a href="https://doi.org/10.1136/jmg.2010.083790" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21266384">Slade et al. (2011)</a> identified constitutional DICER1 mutations in 19 of 823 index patients with a variety of childhood tumors. Of the 19 probands, 10 had PPB only, 2 had cystic nephroma, 3 had ovarian Sertoli-Leydig cell tumors, 1 had Wilms tumor and ovarian Sertoli-Leydig cell tumors, 1 had PPB and intraocular medulloepithelioma, 1 had medulloblastoma/infratentorial primitive neuroectodermal tumor, and 1 had a germ cell tumor. Inheritance was investigated in 17 families, and 25 relatives were found to carry the DICER1 mutation. Seventeen relatives were unaffected, but 1 mother had ovarian Sertoli-Leydig cell tumor, 1 half-sib had cystic nephroma, and 6 relatives had nontoxic thyroid cysts or goiter. The findings indicated that DICER1 mutations are associated with a variety of tumors, but most commonly PPB, cystic nephroma, and ovarian Sertoli-Leydig cell tumors, and that the penetrance is incomplete. <a href="#7" class="mim-tip-reference" title="Slade, I., Bacchelli, C., Davies, H., Murray, A., Abbaszadeh, F., Hanks, S., Barfoot, R., Burke, A., Chisholm, J., Hewitt, M., Jenkinson, H., King, D., and 20 others. <strong>DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome.</strong> J. Med. Genet. 48: 273-278, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21266384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21266384</a>] [<a href="https://doi.org/10.1136/jmg.2010.083790" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21266384">Slade et al. (2011)</a> proposed the designation 'DICER1 syndrome.' Analysis of tumor tissue and cancer cell lines indicated that somatic DICER1 mutations are unlikely to contribute to tumor pathogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21266384" 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="Foulkes, W. D., Bahubeshi, A., Hamel, N., Pasini, B., Asioli, S., Baynam, G., Choong, C. S., Charles, A., Frieder, R. P., Dishop, M. K., Graf, N., Ekim, M., Bouron-Dal Soglio, D., Arseneau, J., Young, R. H., Sabbaghian, N., Srivastava, A., Tischkowitz, M. D., Priest, J. R. <strong>Extending the phenotypes associated with DICER1 mutations.</strong> Hum. Mutat. 32: 1381-1384, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21882293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21882293</a>] [<a href="https://doi.org/10.1002/humu.21600" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21882293">Foulkes et al. (2011)</a> identified 7 different heterozygous truncating mutations in the DICER1 gene in 7 families with a variety of tumor types, including cervical embryonal rhabdomyosarcoma, cervical primitive neuroepithelial tumor-Ewing sarcoma, Sertoli-Leydig cell tumor, multinodular goiter, cystic nephroma, pleiomorphic sarcoma, and Wilms tumor. Other findings included pleuropulmonary blastoma, and lung cysts. One mutation carrier in 1 family had complex cardiac defects, including transposition of the great arteries, bicuspid pulmonary valve, atrial septal defect, and small patent ductus arteriosus, and a mutation carrier in another family had pulmonary sequestration. Examination of tumor tissue from several patients did not show loss of heterozygosity for DICER1, indicating that some different second events must be required for tumor formation. However, the findings indicated that germline DICER1 mutations serve as a conditioning context for the development of multiple tumor types. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21882293" 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="#5" class="mim-tip-reference" title="Hill, D. A., Ivanovich, J., Priest, J. R., Gurnett, C. A., Dehner, L. P., Desruisseau, D., Jarzembowski, J. A., Wilkenheiser-Brokamp, K. A., Suarez, B. K., Whelan, A. J., Williams, G., Bracamontes, D., Messinger, Y., Goodfellow, P. J. <strong>DICER1 mutations in familial pleuropulmonary blastoma.</strong> Science 325: 965 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19556464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19556464</a>] [<a href="https://doi.org/10.1126/science.1174334" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19556464">Hill et al. (2009)</a> mapped the PPB locus to chromosome 14q with a family-based linkage study in 4 families with inherited predisposition to PPB. The peak parametric lod score of 3.71 in the 14q31.1-q32 region pointed to a 7-Mb interval flanked by <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs12886750;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs12886750</a> and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs8008246;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs8008246</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19556464" 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>Of the 72 genes within the 7-Mb region of interest, <a href="#5" class="mim-tip-reference" title="Hill, D. A., Ivanovich, J., Priest, J. R., Gurnett, C. A., Dehner, L. P., Desruisseau, D., Jarzembowski, J. A., Wilkenheiser-Brokamp, K. A., Suarez, B. K., Whelan, A. J., Williams, G., Bracamontes, D., Messinger, Y., Goodfellow, P. J. <strong>DICER1 mutations in familial pleuropulmonary blastoma.</strong> Science 325: 965 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19556464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19556464</a>] [<a href="https://doi.org/10.1126/science.1174334" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19556464">Hill et al. (2009)</a> chose DICER as an attractive candidate because of its role in lung development. <a href="#4" class="mim-tip-reference" title="Harris, K. S., Zhang, Z., McManus, M. T., Harfe, B. D., Sun, X. <strong>Dicer function is essential for lung epithelium morphogenesis.</strong> Proc. Nat. Acad. Sci. 103: 2208-2213, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16452165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16452165</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16452165[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0510839103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16452165">Harris et al. (2006)</a> had shown that conditional loss of DICER1 in the developing mouse lung results in cystic airways, disruption of branching morphogenesis, and mesenchymal expansion that resembles the early stage of PPB. <a href="#5" class="mim-tip-reference" title="Hill, D. A., Ivanovich, J., Priest, J. R., Gurnett, C. A., Dehner, L. P., Desruisseau, D., Jarzembowski, J. A., Wilkenheiser-Brokamp, K. A., Suarez, B. K., Whelan, A. J., Williams, G., Bracamontes, D., Messinger, Y., Goodfellow, P. J. <strong>DICER1 mutations in familial pleuropulmonary blastoma.</strong> Science 325: 965 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19556464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19556464</a>] [<a href="https://doi.org/10.1126/science.1174334" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19556464">Hill et al. (2009)</a> identified heterozygous germline mutations in DICER1 by sequencing genomic DNA from affected members in each of 11 families (4 included in the linkage study and 7 additional families). In 10 of the families, the mutation resulted in proteins truncated proximal to the 2 carboxy-terminal RNaseIII functional domains in DICER1 and thus likely caused loss of function. In 1 family, a missense mutation (L1583R; <a href="/entry/606241#0001">606241.0001</a>) affected an evolutionarily conserved amino acid. Obligate carriers with DICER1 mutations are phenotypically normal, which suggested that loss of 1 DICER allele is compatible with normal development and insufficient for tumor formation. <a href="#5" class="mim-tip-reference" title="Hill, D. A., Ivanovich, J., Priest, J. R., Gurnett, C. A., Dehner, L. P., Desruisseau, D., Jarzembowski, J. A., Wilkenheiser-Brokamp, K. A., Suarez, B. K., Whelan, A. J., Williams, G., Bracamontes, D., Messinger, Y., Goodfellow, P. J. <strong>DICER1 mutations in familial pleuropulmonary blastoma.</strong> Science 325: 965 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19556464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19556464</a>] [<a href="https://doi.org/10.1126/science.1174334" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19556464">Hill et al. (2009)</a> performed immunohistochemistry of DICER1 from PPB tumors and found that, in 6 of the 7 families harboring PPBs with a residual epithelial cystic component, expression from the wildtype allele was lost in tumor-associated epithelium but was retained in the mesenchymal tumor cells. <a href="#5" class="mim-tip-reference" title="Hill, D. A., Ivanovich, J., Priest, J. R., Gurnett, C. A., Dehner, L. P., Desruisseau, D., Jarzembowski, J. A., Wilkenheiser-Brokamp, K. A., Suarez, B. K., Whelan, A. J., Williams, G., Bracamontes, D., Messinger, Y., Goodfellow, P. J. <strong>DICER1 mutations in familial pleuropulmonary blastoma.</strong> Science 325: 965 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19556464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19556464</a>] [<a href="https://doi.org/10.1126/science.1174334" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19556464">Hill et al. (2009)</a> hypothesized that PPB may arise through a novel mechanism of non-cell-autonomous cancer initiation. Conceivably, loss of DICER1 in developing lung epithelium alters miRNA-dependent regulation of diffusible growth factors that promote mesenchymal cell proliferation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19556464+16452165" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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[<a href="https://doi.org/10.1136/jmg.2010.081216" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/1097-0142(19930215)71:4<1338::aid-cncr2820710427>3.0.co;2-a" target="_blank">Full Text</a>]
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Foulkes, W. D., Bahubeshi, A., Hamel, N., Pasini, B., Asioli, S., Baynam, G., Choong, C. S., Charles, A., Frieder, R. P., Dishop, M. K., Graf, N., Ekim, M., Bouron-Dal Soglio, D., Arseneau, J., Young, R. H., Sabbaghian, N., Srivastava, A., Tischkowitz, M. D., Priest, J. R.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21882293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21882293</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21882293" 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/humu.21600" target="_blank">Full Text</a>]
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Harris, K. S., Zhang, Z., McManus, M. T., Harfe, B. D., Sun, X.
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<strong>Dicer function is essential for lung epithelium morphogenesis.</strong>
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Proc. Nat. Acad. Sci. 103: 2208-2213, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16452165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16452165</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16452165[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16452165" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hill, D. A., Ivanovich, J., Priest, J. R., Gurnett, C. A., Dehner, L. P., Desruisseau, D., Jarzembowski, J. A., Wilkenheiser-Brokamp, K. A., Suarez, B. K., Whelan, A. J., Williams, G., Bracamontes, D., Messinger, Y., Goodfellow, P. J.
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<strong>DICER1 mutations in familial pleuropulmonary blastoma.</strong>
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Science 325: 965 only, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19556464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19556464</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19556464" 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/10.1126/science.1174334" target="_blank">Full Text</a>]
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Priest, J. R., Watterson, J., Strong, L., Huff, V., Woods, W. G., Byrd, R. L., Friend, S. H., Newsham, I., Amylon, M. D., Pappo, A., Mahoney, D. H., Langston, C., Heyn, R., Kohut, G., Freyer, D. R., Bostrom, B., Richardson, M. S., Barredo, J., Dehner, L. P.
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[<a href="https://doi.org/10.1016/s0022-3476(96)70393-1" target="_blank">Full Text</a>]
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Slade, I., Bacchelli, C., Davies, H., Murray, A., Abbaszadeh, F., Hanks, S., Barfoot, R., Burke, A., Chisholm, J., Hewitt, M., Jenkinson, H., King, D., and 20 others.
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<strong>DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome.</strong>
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J. Med. Genet. 48: 273-278, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21266384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21266384</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21266384" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2010.083790" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 8/11/2011<br>Cassandra L. Kniffin - updated : 3/16/2011<br>Ada Hamosh - updated : 9/9/2009
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carol : 04/04/2012<br>ckniffin : 4/2/2012<br>wwang : 8/15/2011<br>ckniffin : 8/11/2011<br>wwang : 3/17/2011<br>ckniffin : 3/16/2011<br>terry : 10/21/2009<br>alopez : 9/10/2009<br>terry : 9/9/2009<br>ckniffin : 8/26/2002<br>carol : 11/13/2001<br>mark : 4/12/1996
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<strong>SNOMEDCT:</strong> 702411003;
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<strong>ORPHA:</strong> 284343, 64742;
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<strong>DO:</strong> 0081063;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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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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Pleuropulmonary blastoma
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<span class="mim-font">
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601200
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Autosomal dominant
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<span class="mim-font">
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3
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DICER1
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<span class="mim-font">
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606241
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<p>A number sign (#) is used with this entry because pleuropulmonary blastoma (PPB) can be caused by heterozygous mutation in the DICER1 gene (606241) on chromosome 14q32.</p><p>Multinodular goiter-1 with or without Sertoli-Leydig cell tumors (MNG1; 138800) is also caused by heterozygous mutation in the DICER1 gene.</p>
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<strong>Description</strong>
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<p>Pleuropulmonary blastoma (PPB) is a rare pediatric tumor of the lung that arises during fetal lung development and is often part of an inherited cancer syndrome (Hill et al., 2009). PPBs contain both epithelial and mesenchymal cells. Early in tumorigenesis, cysts form in lung airspaces, and these cysts are lined with benign-appearing epithelium. Mesenchymal cells susceptible to malignant transformation reside within the cyst walls and form a dense 'cambium' layer beneath the epithelial lining. In a subset of patients, overgrowth of the mesenchymal cells produces a sarcoma, a transition that is associated with a poorer prognosis (Priest et al., 1996). </p><p>In approximately 35% of families in which a child has PPB, the patient or a family member manifests 1 or more additional conditions from an unusual array of dysontogenetic-dysplastic and malignant conditions, known as the 'PPB family tumor and dysplasia syndrome' (PPBFTDS). Cystic nephroma, which are benign lesions of the kidney, are found in 9 to 10% of family members affected by PPB (summary by Bahubeshi et al., 2010). </p><p>Larger studies have shown that DICER1 mutations are associated with a variety of tumor types, indicating that this disorder can be considered a tumor predisposition syndrome (summary by Slade et al., 2011). </p>
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<strong>Clinical Features</strong>
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<p>Priest et al. (1996) collected information on the families of 45 children with pleuropulmonary blastoma (PPB) as well as on the children themselves. Pleuropulmonary blastoma is a rare and distinct intrathoracic neoplasm. The tumor arises from the lung, pleura, or both, appears to be purely mesenchymal in phenotype, and usually occurs in children younger than 5 years of age. It lacks malignant epithelial elements, a feature that distinguishes it from the classic adult-type pulmonary blastoma, a neoplasm that has a biphasic histologic pattern in most cases. In 12 of the 45 patients an association was found between PPB and other dysplasias, neoplasias, or malignancies in the patients or in their young relatives. The diseases found in association included other cases of PPB, pulmonary cysts, cystic nephromas, sarcomas, medulloblastomas, thyroid dysplasias, and neoplasias, malignant germ cell tumors, Hodgkin disease, leukemia, and Langerhans cell histiocytosis. Abnormalities of p53 (191170), WT1 (607102), and WT2 (194071) were not found in preliminary investigations. Priest et al. (1996) suggested that the occurrence of PPB points to a constitutional and heritable predisposition to dysplastic or neoplastic disease and that such patients and their families should be investigated accordingly. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Delahunt et al. (1993) reported a family in which a 27-month-old girl and a 31-month-old boy underwent nephrectomy for cystic nephroma and were free of disease in the contralateral kidney 16 and 14 years later, respectively. Their 28-month-old sister underwent pleuropneumonectomy with postoperative chemotherapy for PPB and died of recurrent disease 9 months later. Delahunt et al. (1993) postulated the inheritance of a germline mutation predisposing to the development of these tumors. </p><p>Hill et al. (2009) studied 11 families with more than 1 affected member. Individuals were classified as affected if they had either PPB, lung cysts, cystic nephroma, or embryonal rhabdomyosarcoma. </p><p>Bahubeshi et al. (2010) reported 2 unrelated families with cystic nephroma with or without PPB. Cystic nephroma is a benign kidney tumor with differentiated septa and without blastemal elements. In 1 family, a 7-month-old boy developed cystic nephroma and was alive at age 5 years. His sister, who was diagnosed with cystic nephroma and PPB at age 4 years, died at age 5 years. In addition, their mother and 2 additional maternal relatives had goiter. In a second family, 2 brothers diagnosed with cystic nephroma at ages 2 and 3 years were still alive at ages 4 and 7 years, respectively. CT scan in 1 brother showed 2 lung cysts, likely a subtle manifestation. Genetic analysis identified a different heterozygous mutation in the DICER1 gene in each family (see, e.g., 606241.0006). </p><p>Slade et al. (2011) identified constitutional DICER1 mutations in 19 of 823 index patients with a variety of childhood tumors. Of the 19 probands, 10 had PPB only, 2 had cystic nephroma, 3 had ovarian Sertoli-Leydig cell tumors, 1 had Wilms tumor and ovarian Sertoli-Leydig cell tumors, 1 had PPB and intraocular medulloepithelioma, 1 had medulloblastoma/infratentorial primitive neuroectodermal tumor, and 1 had a germ cell tumor. Inheritance was investigated in 17 families, and 25 relatives were found to carry the DICER1 mutation. Seventeen relatives were unaffected, but 1 mother had ovarian Sertoli-Leydig cell tumor, 1 half-sib had cystic nephroma, and 6 relatives had nontoxic thyroid cysts or goiter. The findings indicated that DICER1 mutations are associated with a variety of tumors, but most commonly PPB, cystic nephroma, and ovarian Sertoli-Leydig cell tumors, and that the penetrance is incomplete. Slade et al. (2011) proposed the designation 'DICER1 syndrome.' Analysis of tumor tissue and cancer cell lines indicated that somatic DICER1 mutations are unlikely to contribute to tumor pathogenesis. </p><p>Foulkes et al. (2011) identified 7 different heterozygous truncating mutations in the DICER1 gene in 7 families with a variety of tumor types, including cervical embryonal rhabdomyosarcoma, cervical primitive neuroepithelial tumor-Ewing sarcoma, Sertoli-Leydig cell tumor, multinodular goiter, cystic nephroma, pleiomorphic sarcoma, and Wilms tumor. Other findings included pleuropulmonary blastoma, and lung cysts. One mutation carrier in 1 family had complex cardiac defects, including transposition of the great arteries, bicuspid pulmonary valve, atrial septal defect, and small patent ductus arteriosus, and a mutation carrier in another family had pulmonary sequestration. Examination of tumor tissue from several patients did not show loss of heterozygosity for DICER1, indicating that some different second events must be required for tumor formation. However, the findings indicated that germline DICER1 mutations serve as a conditioning context for the development of multiple tumor types. </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>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>Hill et al. (2009) mapped the PPB locus to chromosome 14q with a family-based linkage study in 4 families with inherited predisposition to PPB. The peak parametric lod score of 3.71 in the 14q31.1-q32 region pointed to a 7-Mb interval flanked by rs12886750 and rs8008246. </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>Of the 72 genes within the 7-Mb region of interest, Hill et al. (2009) chose DICER as an attractive candidate because of its role in lung development. Harris et al. (2006) had shown that conditional loss of DICER1 in the developing mouse lung results in cystic airways, disruption of branching morphogenesis, and mesenchymal expansion that resembles the early stage of PPB. Hill et al. (2009) identified heterozygous germline mutations in DICER1 by sequencing genomic DNA from affected members in each of 11 families (4 included in the linkage study and 7 additional families). In 10 of the families, the mutation resulted in proteins truncated proximal to the 2 carboxy-terminal RNaseIII functional domains in DICER1 and thus likely caused loss of function. In 1 family, a missense mutation (L1583R; 606241.0001) affected an evolutionarily conserved amino acid. Obligate carriers with DICER1 mutations are phenotypically normal, which suggested that loss of 1 DICER allele is compatible with normal development and insufficient for tumor formation. Hill et al. (2009) performed immunohistochemistry of DICER1 from PPB tumors and found that, in 6 of the 7 families harboring PPBs with a residual epithelial cystic component, expression from the wildtype allele was lost in tumor-associated epithelium but was retained in the mesenchymal tumor cells. Hill et al. (2009) hypothesized that PPB may arise through a novel mechanism of non-cell-autonomous cancer initiation. Conceivably, loss of DICER1 in developing lung epithelium alters miRNA-dependent regulation of diffusible growth factors that promote mesenchymal cell proliferation. </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>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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Bahubeshi, A., Bal, N., Rio Frio, T., Hamel, N., Pouchet, C., Yilmaz, A., Bouron-Dal Soglio, D., Williams, G. M., Tischkowitz, M., Priest, J. R., Foulkes, W. D.
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<strong>Germline DICER1 mutations and familial cystic nephroma.</strong>
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J. Med. Genet. 47: 863-866, 2010.
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[PubMed: 21036787]
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[Full Text: https://doi.org/10.1136/jmg.2010.081216]
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</li>
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<p class="mim-text-font">
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Delahunt, B., Thomson, K. J., Ferguson, A. F., Neale, T. J., Meffan, P. J., Nacey, J. N.
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<strong>Familial cystic nephroma and pleuropulmonary blastoma.</strong>
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Cancer 71: 1338-1342, 1993.
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[PubMed: 8382107]
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[Full Text: https://doi.org/10.1002/1097-0142(19930215)71:4<1338::aid-cncr2820710427>3.0.co;2-a]
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<li>
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<p class="mim-text-font">
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Foulkes, W. D., Bahubeshi, A., Hamel, N., Pasini, B., Asioli, S., Baynam, G., Choong, C. S., Charles, A., Frieder, R. P., Dishop, M. K., Graf, N., Ekim, M., Bouron-Dal Soglio, D., Arseneau, J., Young, R. H., Sabbaghian, N., Srivastava, A., Tischkowitz, M. D., Priest, J. R.
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<strong>Extending the phenotypes associated with DICER1 mutations.</strong>
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Hum. Mutat. 32: 1381-1384, 2011.
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[PubMed: 21882293]
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[Full Text: https://doi.org/10.1002/humu.21600]
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<p class="mim-text-font">
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Harris, K. S., Zhang, Z., McManus, M. T., Harfe, B. D., Sun, X.
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<strong>Dicer function is essential for lung epithelium morphogenesis.</strong>
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Proc. Nat. Acad. Sci. 103: 2208-2213, 2006.
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[PubMed: 16452165]
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[Full Text: https://doi.org/10.1073/pnas.0510839103]
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<li>
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<p class="mim-text-font">
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Hill, D. A., Ivanovich, J., Priest, J. R., Gurnett, C. A., Dehner, L. P., Desruisseau, D., Jarzembowski, J. A., Wilkenheiser-Brokamp, K. A., Suarez, B. K., Whelan, A. J., Williams, G., Bracamontes, D., Messinger, Y., Goodfellow, P. J.
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<strong>DICER1 mutations in familial pleuropulmonary blastoma.</strong>
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Science 325: 965 only, 2009.
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[PubMed: 19556464]
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[Full Text: https://doi.org/10.1126/science.1174334]
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<p class="mim-text-font">
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Priest, J. R., Watterson, J., Strong, L., Huff, V., Woods, W. G., Byrd, R. L., Friend, S. H., Newsham, I., Amylon, M. D., Pappo, A., Mahoney, D. H., Langston, C., Heyn, R., Kohut, G., Freyer, D. R., Bostrom, B., Richardson, M. S., Barredo, J., Dehner, L. P.
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<strong>Pleuropulmonary blastoma: a marker for familial disease.</strong>
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J. Pediat. 128: 220-224, 1996.
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[PubMed: 8636815]
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[Full Text: https://doi.org/10.1016/s0022-3476(96)70393-1]
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Slade, I., Bacchelli, C., Davies, H., Murray, A., Abbaszadeh, F., Hanks, S., Barfoot, R., Burke, A., Chisholm, J., Hewitt, M., Jenkinson, H., King, D., and 20 others.
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<strong>DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome.</strong>
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J. Med. Genet. 48: 273-278, 2011.
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[PubMed: 21266384]
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[Full Text: https://doi.org/10.1136/jmg.2010.083790]
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 4/2/2012<br>Cassandra L. Kniffin - updated : 8/11/2011<br>Cassandra L. Kniffin - updated : 3/16/2011<br>Ada Hamosh - updated : 9/9/2009
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</span>
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 4/12/1996
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carol : 11/14/2017<br>carol : 04/04/2012<br>ckniffin : 4/2/2012<br>wwang : 8/15/2011<br>ckniffin : 8/11/2011<br>wwang : 3/17/2011<br>ckniffin : 3/16/2011<br>terry : 10/21/2009<br>alopez : 9/10/2009<br>terry : 9/9/2009<br>ckniffin : 8/26/2002<br>carol : 11/13/2001<br>mark : 4/12/1996
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