2708 lines
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Entry
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- #600666 - POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD3
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- OMIM
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<p>
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<span class="h4">#600666</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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>
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<li role="presentation">
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<a href="/clinicalSynopsis/600666"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS173900"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
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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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</li>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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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 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=POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=823&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1246/" 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.ncbi.nlm.nih.gov/gtr/all/tests/?term=600666[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=730" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<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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</a>
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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:0110860" 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/600666" 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:0110860" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:600666" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 730<br />
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<strong>DO:</strong> 0110860<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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600666
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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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POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD3
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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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POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE III; APKD3
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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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<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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<span class="mim-font">
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<a href="/geneMap/11/484?start=-3&limit=10&highlight=484">
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11q12.3
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Polycystic kidney disease 3
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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/600666"> 600666 </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>
|
|
<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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GANAB
|
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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/104160"> 104160 </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 ">
|
|
<a href="/clinicalSynopsis/600666" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
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</div>
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<div class="btn-group">
|
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|
|
<a href="/phenotypicSeries/PS173900" class="btn btn-info" role="button"> Phenotypic Series </a>
|
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|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<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">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/600666" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/600666" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
|
</div>
|
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|
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<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">
|
|
<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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|
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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>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </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> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypertension (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38341003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38341003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/401-405.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">401-405.99</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/997.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">997.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span><br /> -
|
|
Intracranial aneurysm (1 family) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/128609009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">128609009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007766&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007766</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004944" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004944</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004944" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004944</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Liver cysts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85057007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85057007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0267834&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0267834</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001407</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001407</a>]</span><br /> -
|
|
Liver dysfunction (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/75183008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">75183008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086565&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086565</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001410" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001410</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002910" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002910</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001410" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001410</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Renal cysts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/722223000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">722223000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3887499&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887499</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000107</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000107</a>]</span><br /> -
|
|
Renal dysfunction (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/723188008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">723188008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236423003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236423003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3279454&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279454</a>, <a href="https://bioportal.bioontology.org/search?q=C1565489&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1565489</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
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|
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|
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|
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|
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|
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|
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|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
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|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset usually in mid- to late-adulthood<br /> -
|
|
Highly variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866862&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866862</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
|
|
Renal disease is typically mild<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the glucosidase, alpha, neutral AB gene (GANAB, <a href="/entry/104160#0001">104160.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Polycystic kidney disease
|
|
- <a href="/phenotypicSeries/PS173900">PS173900</a>
|
|
- 8 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/713?start=-3&limit=10&highlight=713"> 3q22.3 </a>
|
|
|
|
</span>
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<a href="/entry/617610"> Polycystic kidney disease 5 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<a href="/entry/617610"> 617610 </a>
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<a href="/entry/617570"> DZIP1L </a>
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<a href="/entry/617570"> 617570 </a>
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<a href="/entry/618061"> Polycystic kidney disease 6 with or without polycystic liver disease </a>
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<span class="mim-font">
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<a href="/entry/611341"> DNAJB11 </a>
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<a href="/entry/613095"> Polycystic kidney disease 2 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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<a href="/entry/173910"> PKD2 </a>
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<a href="/entry/173910"> 173910 </a>
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<span class="mim-font">
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<a href="/entry/263200"> Polycystic kidney disease 4, with or without hepatic disease </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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 class="mim-font">
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<a href="/entry/263200"> 263200 </a>
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<a href="/entry/606702"> PKHD1 </a>
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<a href="/entry/606702"> 606702 </a>
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<span class="mim-font">
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<a href="/entry/600666"> Polycystic kidney disease 3 </a>
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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 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 class="mim-font">
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<a href="/entry/600666"> 600666 </a>
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<a href="/entry/104160"> GANAB </a>
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<span class="mim-font">
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<a href="/entry/104160"> 104160 </a>
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<a href="/geneMap/13/101?start=-3&limit=10&highlight=101"> 13q13.3 </a>
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<span class="mim-font">
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<a href="/entry/620056"> Polycystic kidney disease 7 </a>
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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 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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<a href="/entry/620056"> 620056 </a>
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<span class="mim-font">
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<a href="/entry/604565"> ALG5 </a>
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<span class="mim-font">
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<a href="/entry/604565"> 604565 </a>
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<a href="/geneMap/16/94?start=-3&limit=10&highlight=94"> 16p13.3 </a>
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<span class="mim-font">
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<a href="/entry/173900"> Polycystic kidney disease 1 </a>
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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 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 class="mim-font">
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<a href="/entry/173900"> 173900 </a>
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<span class="mim-font">
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<a href="/entry/601313"> PKD1 </a>
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<span class="mim-font">
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<a href="/entry/601313"> 601313 </a>
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<a href="/geneMap/17/351?start=-3&limit=10&highlight=351"> 17q11.2 </a>
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<span class="mim-font">
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<a href="/entry/620903"> Polycystic kidney disease 8 </a>
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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 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 class="mim-font">
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<a href="/entry/620903"> 620903 </a>
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<span class="mim-font">
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<a href="/entry/609799"> NEK8 </a>
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<span class="mim-font">
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<a href="/entry/609799"> 609799 </a>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that polycystic kidney disease-3 with or without polycystic liver disease (PKD3) is caused by heterozygous mutation in the GANAB gene (<a href="/entry/104160">104160</a>) on chromosome 11q13.</p>
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<strong>Description</strong>
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<p>Polycystic kidney disease-3, a form of autosomal dominant PKD (ADPKD), is characterized by renal cysts, often associated with liver cysts, that may lead to organ dysfunction. Affected individuals usually present in mid to late adulthood with progressive cysts in the kidney and/or liver. The renal disease is relatively mild, and only some patients develop hypertension; renal insufficiency usually does not occur. The liver disease shows a wide spectrum of severity: some patients have no cysts, whereas others have severe liver involvement (summary by <a href="#2" class="mim-tip-reference" title="Porath, B., Gainullin, V. G., Cornec-Le Gall, E., Dillinger, E. K., Heyer, C. M., Hopp, K., Edwards, M. E., Madsen, C. D., Mauritz, S. R., Banks, C. J., Baheti, S., Reddy, B., and 16 others. <strong>Mutations in GANAB, encoding the glucosidase II-alpha subunit, cause autosomal-dominant polycystic kidney and liver disease.</strong> Am. J. Hum. Genet. 98: 1193-1207, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27259053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27259053</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27259053[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/10.1016/j.ajhg.2016.05.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27259053">Porath et al., 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27259053" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of PKD, see PKD1 (<a href="/entry/173900">173900</a>).</p>
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<strong>Clinical Features</strong>
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<p><a href="#2" class="mim-tip-reference" title="Porath, B., Gainullin, V. G., Cornec-Le Gall, E., Dillinger, E. K., Heyer, C. M., Hopp, K., Edwards, M. E., Madsen, C. D., Mauritz, S. R., Banks, C. J., Baheti, S., Reddy, B., and 16 others. <strong>Mutations in GANAB, encoding the glucosidase II-alpha subunit, cause autosomal-dominant polycystic kidney and liver disease.</strong> Am. J. Hum. Genet. 98: 1193-1207, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27259053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27259053</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27259053[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/10.1016/j.ajhg.2016.05.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27259053">Porath et al. (2016)</a> reported 20 patients from 9 unrelated families with autosomal dominant polycystic kidney and/or liver disease associated with heterozygous mutations in the GANAB gene. Seven of the families presented with a primary diagnosis of PKD, and 2 with a primary diagnosis of polycystic liver disease (PCLD), although there was significant phenotypic overlap between the 2 groups. Most patients presented in mid- to late-adulthood, although 1 boy became symptomatic at age 9 years. Overall, the renal disease was relatively mild without renal insufficiency, and less than half of patients had high blood pressure. Renal imaging showed variable numbers of multiple cysts (from less than 10 to more than 40) in all patients, including those with a primary diagnosis of PCLD. The liver disease was variable and ranged from no cysts to severe disease requiring surgical intervention in 2 unrelated patients in their forties. Liver imaging showed cysts in most patients with a primary diagnosis of PKD, and in all 5 patients with a primary diagnosis of PCLD. A father and daughter (family M263 with PKD) had mild kidney and significant liver cystic disease, but no high blood pressure. Two sisters (family M641) had mild PKD, but only 1 had multiple liver cysts. However, both had intracranial aneurysms, and the deceased father reportedly had a ruptured aneurysm. In another family (family 290100), a father and son had mild PKD, but only the father had multiple liver cysts. <a href="#2" class="mim-tip-reference" title="Porath, B., Gainullin, V. G., Cornec-Le Gall, E., Dillinger, E. K., Heyer, C. M., Hopp, K., Edwards, M. E., Madsen, C. D., Mauritz, S. R., Banks, C. J., Baheti, S., Reddy, B., and 16 others. <strong>Mutations in GANAB, encoding the glucosidase II-alpha subunit, cause autosomal-dominant polycystic kidney and liver disease.</strong> Am. J. Hum. Genet. 98: 1193-1207, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27259053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27259053</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27259053[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/10.1016/j.ajhg.2016.05.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27259053">Porath et al. (2016)</a> concluded that GANAB-related PKD and PCLD are not necessarily separate diseases, but rather share overlapping features whose variability may be determined by additional genetic factors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27259053" 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="#1" class="mim-tip-reference" title="Besse, W., Choi, J., Ahram, D., Mane, S., Sanna-Cherchi, S., Torres, V., Somlo, S. <strong>A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family.</strong> Hum. Mutat. 39: 378-382, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29243290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29243290</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29243290[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/10.1002/humu.23383" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29243290">Besse et al. (2018)</a> reported a large family (family T90) in which 6 individuals spanning 2 generations had isolated polycystic liver disease associated with a heterozygous mutation in the GANAB gene (<a href="/entry/104160#0007">104160.0007</a>). Clinical details of the family were not provided, but they apparently did not have kidney cysts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29243290" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of PKD3 in family M263 reported by <a href="#2" class="mim-tip-reference" title="Porath, B., Gainullin, V. G., Cornec-Le Gall, E., Dillinger, E. K., Heyer, C. M., Hopp, K., Edwards, M. E., Madsen, C. D., Mauritz, S. R., Banks, C. J., Baheti, S., Reddy, B., and 16 others. <strong>Mutations in GANAB, encoding the glucosidase II-alpha subunit, cause autosomal-dominant polycystic kidney and liver disease.</strong> Am. J. Hum. Genet. 98: 1193-1207, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27259053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27259053</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27259053[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/10.1016/j.ajhg.2016.05.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27259053">Porath et al. (2016)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27259053" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 20 affected members of 9 unrelated families with PKD3, <a href="#2" class="mim-tip-reference" title="Porath, B., Gainullin, V. G., Cornec-Le Gall, E., Dillinger, E. K., Heyer, C. M., Hopp, K., Edwards, M. E., Madsen, C. D., Mauritz, S. R., Banks, C. J., Baheti, S., Reddy, B., and 16 others. <strong>Mutations in GANAB, encoding the glucosidase II-alpha subunit, cause autosomal-dominant polycystic kidney and liver disease.</strong> Am. J. Hum. Genet. 98: 1193-1207, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27259053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27259053</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27259053[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/10.1016/j.ajhg.2016.05.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27259053">Porath et al. (2016)</a> identified 8 different heterozygous mutations in the GANAB gene (see, e.g., <a href="/entry/104160#0001">104160.0001</a>-<a href="/entry/104160#0006">104160.0006</a>). Five of the mutations were predicted to result in a truncated protein (frameshift, nonsense, or splicing), and 3 were missense mutations. The mutation in the first family was found by whole-exome sequencing of 6 families with ADPKD; subsequent mutations were identified by Sanger sequencing of the GANAB gene in 321 families with ADPKD and/or ADPLD. Complete knockdown of GANAB in human renal cells resulted in absence of the mature N-terminal polycystin-1 (PKD1; <a href="/entry/601313">601313</a>), but full-length polycystin-1 and polycystin-2 (PKD2; <a href="/entry/173910">173910</a>) were present, indicating that GANAB plays a major role in the maturation of these proteins. Heterozygous-null GANAB renal cells had a 50% depletion of mature N-terminal polycystin-1. Transfection of the 3 missense mutations into GANAB-null renal cells failed to rescue the lack of surface PKD1 expression, indicating that these mutations resulted in a loss of enzyme function. The authors noted that PRKCSH (<a href="/entry/177060">177060</a>), mutations in which cause polycystic liver disease-1 (PCLD1; <a href="/entry/174050">174050</a>) without renal cysts, and GANAB are subunits of the same protein, so it is not clear why GANAB mutations result in more renal disease. The highly variable phenotype was typical of polycystic kidney and liver disease, and allelic effects did not appear to explain this variability. The cystogenesis was most likely driven by defects in maturation of PKD1, mutations in which cause autosomal dominant polycystic kidney disease-1 (<a href="/entry/173900">173900</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27259053" 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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<strong>REFERENCES</strong>
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<a id="Besse2018" class="mim-anchor"></a>
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Besse, W., Choi, J., Ahram, D., Mane, S., Sanna-Cherchi, S., Torres, V., Somlo, S.
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<strong>A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family.</strong>
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Hum. Mutat. 39: 378-382, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29243290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29243290</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29243290[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=29243290" 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.23383" target="_blank">Full Text</a>]
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<a id="Porath2016" class="mim-anchor"></a>
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Porath, B., Gainullin, V. G., Cornec-Le Gall, E., Dillinger, E. K., Heyer, C. M., Hopp, K., Edwards, M. E., Madsen, C. D., Mauritz, S. R., Banks, C. J., Baheti, S., Reddy, B., and 16 others.
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<strong>Mutations in GANAB, encoding the glucosidase II-alpha subunit, cause autosomal-dominant polycystic kidney and liver disease.</strong>
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Am. J. Hum. Genet. 98: 1193-1207, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27259053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27259053</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27259053[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=27259053" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2016.05.004" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 02/19/2018
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Cassandra L. Kniffin - updated : 07/20/2016<br>Victor A. McKusick - updated : 2/2/2004<br>Michael J. Wright - updated : 7/1/2002<br>Victor A. McKusick - updated : 3/2/1999<br>Michael J. Wright - updated : 12/18/1997<br>Victor A. McKusick - updated : 4/25/1997
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Victor A. McKusick : 10/2/1995
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alopez : 07/13/2023
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carol : 02/21/2018<br>ckniffin : 02/19/2018<br>carol : 02/14/2018<br>carol : 08/07/2017<br>carol : 07/25/2016<br>ckniffin : 07/20/2016<br>ckniffin : 07/19/2016<br>mgross : 10/16/2009<br>terry : 9/10/2008<br>alopez : 2/3/2006<br>tkritzer : 2/5/2004<br>terry : 2/2/2004<br>carol : 9/17/2003<br>alopez : 7/3/2002<br>terry : 7/1/2002<br>carol : 3/7/1999<br>terry : 3/2/1999<br>alopez : 3/5/1998<br>alopez : 1/15/1998<br>terry : 12/18/1997<br>terry : 7/8/1997<br>alopez : 4/25/1997<br>alopez : 4/25/1997<br>terry : 4/24/1997<br>carol : 6/6/1996<br>mimadm : 11/3/1995<br>mark : 10/2/1995
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<strong>#</strong> 600666
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POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD3
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<em>Alternative titles; symbols</em>
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POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE III; APKD3
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<strong>ORPHA:</strong> 730;
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<strong>DO:</strong> 0110860;
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<strong>Phenotype-Gene Relationships</strong>
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11q12.3
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Polycystic kidney disease 3
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600666
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Autosomal dominant
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3
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GANAB
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104160
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that polycystic kidney disease-3 with or without polycystic liver disease (PKD3) is caused by heterozygous mutation in the GANAB gene (104160) on chromosome 11q13.</p>
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<strong>Description</strong>
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<p>Polycystic kidney disease-3, a form of autosomal dominant PKD (ADPKD), is characterized by renal cysts, often associated with liver cysts, that may lead to organ dysfunction. Affected individuals usually present in mid to late adulthood with progressive cysts in the kidney and/or liver. The renal disease is relatively mild, and only some patients develop hypertension; renal insufficiency usually does not occur. The liver disease shows a wide spectrum of severity: some patients have no cysts, whereas others have severe liver involvement (summary by Porath et al., 2016). </p><p>For a discussion of genetic heterogeneity of PKD, see PKD1 (173900).</p>
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<strong>Clinical Features</strong>
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<p>Porath et al. (2016) reported 20 patients from 9 unrelated families with autosomal dominant polycystic kidney and/or liver disease associated with heterozygous mutations in the GANAB gene. Seven of the families presented with a primary diagnosis of PKD, and 2 with a primary diagnosis of polycystic liver disease (PCLD), although there was significant phenotypic overlap between the 2 groups. Most patients presented in mid- to late-adulthood, although 1 boy became symptomatic at age 9 years. Overall, the renal disease was relatively mild without renal insufficiency, and less than half of patients had high blood pressure. Renal imaging showed variable numbers of multiple cysts (from less than 10 to more than 40) in all patients, including those with a primary diagnosis of PCLD. The liver disease was variable and ranged from no cysts to severe disease requiring surgical intervention in 2 unrelated patients in their forties. Liver imaging showed cysts in most patients with a primary diagnosis of PKD, and in all 5 patients with a primary diagnosis of PCLD. A father and daughter (family M263 with PKD) had mild kidney and significant liver cystic disease, but no high blood pressure. Two sisters (family M641) had mild PKD, but only 1 had multiple liver cysts. However, both had intracranial aneurysms, and the deceased father reportedly had a ruptured aneurysm. In another family (family 290100), a father and son had mild PKD, but only the father had multiple liver cysts. Porath et al. (2016) concluded that GANAB-related PKD and PCLD are not necessarily separate diseases, but rather share overlapping features whose variability may be determined by additional genetic factors. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Besse et al. (2018) reported a large family (family T90) in which 6 individuals spanning 2 generations had isolated polycystic liver disease associated with a heterozygous mutation in the GANAB gene (104160.0007). Clinical details of the family were not provided, but they apparently did not have kidney cysts. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of PKD3 in family M263 reported by Porath et al. (2016) was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In 20 affected members of 9 unrelated families with PKD3, Porath et al. (2016) identified 8 different heterozygous mutations in the GANAB gene (see, e.g., 104160.0001-104160.0006). Five of the mutations were predicted to result in a truncated protein (frameshift, nonsense, or splicing), and 3 were missense mutations. The mutation in the first family was found by whole-exome sequencing of 6 families with ADPKD; subsequent mutations were identified by Sanger sequencing of the GANAB gene in 321 families with ADPKD and/or ADPLD. Complete knockdown of GANAB in human renal cells resulted in absence of the mature N-terminal polycystin-1 (PKD1; 601313), but full-length polycystin-1 and polycystin-2 (PKD2; 173910) were present, indicating that GANAB plays a major role in the maturation of these proteins. Heterozygous-null GANAB renal cells had a 50% depletion of mature N-terminal polycystin-1. Transfection of the 3 missense mutations into GANAB-null renal cells failed to rescue the lack of surface PKD1 expression, indicating that these mutations resulted in a loss of enzyme function. The authors noted that PRKCSH (177060), mutations in which cause polycystic liver disease-1 (PCLD1; 174050) without renal cysts, and GANAB are subunits of the same protein, so it is not clear why GANAB mutations result in more renal disease. The highly variable phenotype was typical of polycystic kidney and liver disease, and allelic effects did not appear to explain this variability. The cystogenesis was most likely driven by defects in maturation of PKD1, mutations in which cause autosomal dominant polycystic kidney disease-1 (173900). </p>
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<strong>REFERENCES</strong>
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Besse, W., Choi, J., Ahram, D., Mane, S., Sanna-Cherchi, S., Torres, V., Somlo, S.
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<strong>A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family.</strong>
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Hum. Mutat. 39: 378-382, 2018.
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[PubMed: 29243290]
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[Full Text: https://doi.org/10.1002/humu.23383]
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Porath, B., Gainullin, V. G., Cornec-Le Gall, E., Dillinger, E. K., Heyer, C. M., Hopp, K., Edwards, M. E., Madsen, C. D., Mauritz, S. R., Banks, C. J., Baheti, S., Reddy, B., and 16 others.
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<strong>Mutations in GANAB, encoding the glucosidase II-alpha subunit, cause autosomal-dominant polycystic kidney and liver disease.</strong>
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Am. J. Hum. Genet. 98: 1193-1207, 2016.
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[PubMed: 27259053]
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[Full Text: https://doi.org/10.1016/j.ajhg.2016.05.004]
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Contributors:
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Cassandra L. Kniffin - updated : 02/19/2018<br>Cassandra L. Kniffin - updated : 07/20/2016<br>Victor A. McKusick - updated : 2/2/2004<br>Michael J. Wright - updated : 7/1/2002<br>Victor A. McKusick - updated : 3/2/1999<br>Michael J. Wright - updated : 12/18/1997<br>Victor A. McKusick - updated : 4/25/1997
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 10/2/1995
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Edit History:
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alopez : 07/13/2023<br>carol : 02/21/2018<br>ckniffin : 02/19/2018<br>carol : 02/14/2018<br>carol : 08/07/2017<br>carol : 07/25/2016<br>ckniffin : 07/20/2016<br>ckniffin : 07/19/2016<br>mgross : 10/16/2009<br>terry : 9/10/2008<br>alopez : 2/3/2006<br>tkritzer : 2/5/2004<br>terry : 2/2/2004<br>carol : 9/17/2003<br>alopez : 7/3/2002<br>terry : 7/1/2002<br>carol : 3/7/1999<br>terry : 3/2/1999<br>alopez : 3/5/1998<br>alopez : 1/15/1998<br>terry : 12/18/1997<br>terry : 7/8/1997<br>alopez : 4/25/1997<br>alopez : 4/25/1997<br>terry : 4/24/1997<br>carol : 6/6/1996<br>mimadm : 11/3/1995<br>mark : 10/2/1995
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