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Entry
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- #613095 - POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2
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- OMIM
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<p>
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<span class="h4">#613095</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/613095"><strong>Clinical Synopsis</strong></a>
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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="#clinicalFeatures">Clinical Features</a>
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<a href="#otherFeatures">Other Features</a>
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<a href="#inheritance">Inheritance</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="#animalModel">Animal Model</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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<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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<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><a href="https://clinicaltrials.gov/search?cond=POLYCYSTIC KIDNEY DISEASE 2 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://medlineplus.gov/genetics/condition/polycystic-kidney-disease" 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=613095[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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</div>
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</a>
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</span>
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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:0110859" 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/613095" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA002525/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0110859" 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 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>SNOMEDCT:</strong> 253879006<br />
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<strong>ORPHA:</strong> 730<br />
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<strong>DO:</strong> 0110859<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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613095
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</span>
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</span>
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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 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2
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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 II; APKD2
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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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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<td>
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<span class="mim-font">
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<a href="/geneMap/4/398?start=-3&limit=10&highlight=398">
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4q22.1
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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 2
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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/613095"> 613095 </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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</td>
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<td>
|
|
<span class="mim-font">
|
|
PKD2
|
|
</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/173910"> 173910 </a>
|
|
</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/613095" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
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|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS173900" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<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>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
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|
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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/613095" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/613095" 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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|
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Craniofacial defects, subtle (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4478884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4478884</a>]</span><br /> -
|
|
Facial asymmetry (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13851000119109" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13851000119109</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15253005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15253005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1306710&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1306710</a>, <a href="https://bioportal.bioontology.org/search?q=C0546952&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0546952</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000324</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000324</a>]</span><br /> -
|
|
Midface hypoplasia (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853242&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853242</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011800</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011800</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=f0adae8ae2dc0ad9ed28c3c3e0e8f8a9" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Midface_Retrusion-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=f0adae8ae2dc0ad9ed28c3c3e0e8f8a9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Compressed temporomandibular joints (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4478885&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4478885</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Abnormal tooth position (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852504&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852504</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000692" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000692</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dextrocardia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27637000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27637000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q24.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q24.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011813&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011813</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001651" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001651</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001651" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001651</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Laterality defects (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4478883&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4478883</a>]</span><br /> -
|
|
Situs inversus (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27317008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27317008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43876007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43876007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q89.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q89.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/759.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">759.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0037221&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037221</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003363" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003363</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001696" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001696</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001696" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001696</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hepatic cysts (in some patients) <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 />
|
|
|
|
</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">
|
|
|
|
- Polycystic kidneys <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/82525005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">82525005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q61.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q61.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/753.12" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">753.12</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1567435&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1567435</a>, <a href="https://bioportal.bioontology.org/search?q=C0022680&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022680</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000113" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000113</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000113" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000113</a>]</span><br /> -
|
|
Enlarged kidneys <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/300444006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">300444006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0542518&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0542518</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000105" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000105</a>]</span><br /> -
|
|
Renal insufficiency <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/42399005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42399005</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">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N19</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">586</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <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>, <a href="https://bioportal.bioontology.org/search?q=C0035078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035078</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> <span class="mim-feature-ids hidden">[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 /> -
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|
End-stage renal disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90688005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90688005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46177005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46177005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/433146000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">433146000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/585.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">585.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022661&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022661</a>, <a href="https://bioportal.bioontology.org/search?q=C2316810&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2316810</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003774</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003774</a>]</span><br /> -
|
|
Urinary tract infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197927001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197927001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/68566005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">68566005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N39.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N39.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/599.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">599.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042029&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042029</a>, <a href="https://bioportal.bioontology.org/search?q=C0262655&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0262655</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000010</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000010</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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<div>
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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </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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- Increased serum creatinine <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166717003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166717003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700225&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700225</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003259</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003259</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> MISCELLANEOUS </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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- Incomplete penetrance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span><br /> -
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Patients usually present as adults<br /> -
|
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Progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span><br /> -
|
|
Mean age of onset of end-stage renal disease is 70 years (later than in PKD1)<br /> -
|
|
One family with perinatal onset resulting in perinatal death has been reported<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> MOLECULAR BASIS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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|
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- Caused by mutation in the polycystin 2 gene (PKD2, <a href="/entry/173910#0001">173910.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
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<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 id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
|
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
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<h5>
|
|
Polycystic kidney disease
|
|
- <a href="/phenotypicSeries/PS173900">PS173900</a>
|
|
- 8 Entries
|
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</h5>
|
|
</div>
|
|
</div>
|
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|
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<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>
|
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</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
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</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>
|
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</th>
|
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</tr>
|
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</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
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<span class="mim-font">
|
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|
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<a href="/geneMap/3/713?start=-3&limit=10&highlight=713"> 3q22.3 </a>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617610"> Polycystic kidney disease 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617610"> 617610 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617570"> DZIP1L </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617570"> 617570 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/935?start=-3&limit=10&highlight=935"> 3q27.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618061"> Polycystic kidney disease 6 with or without polycystic liver disease </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618061"> 618061 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611341"> DNAJB11 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611341"> 611341 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/398?start=-3&limit=10&highlight=398"> 4q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613095"> Polycystic kidney disease 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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<a href="/entry/620903"> Polycystic kidney disease 8 </a>
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<a href="/entry/609799"> NEK8 </a>
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<a href="/entry/609799"> 609799 </a>
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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 polycystic kidney disease-2 with or without polycystic liver disease (PKD2) is caused by heterozygous mutation in the gene encoding polycystin-2 (PKD2; <a href="/entry/173910">173910</a>) on chromosome 4q22.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (<a href="/entry/173900">173900</a>).</p>
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<p><a href="#12" class="mim-tip-reference" title="Kimberling, W. J., Fain, P. R., Kenyon, J. B., Goldgar, D., Sujansky, E., Gabow, P. A. <strong>Linkage heterogeneity of autosomal dominant polycystic kidney disease.</strong> New Eng. J. Med. 319: 913-918, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2843768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2843768</a>] [<a href="https://doi.org/10.1056/NEJM198810063191405" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2843768">Kimberling et al. (1988)</a> described a 5-generation kindred, descendants of Sicilian immigrants to the United States, in which autosomal dominant polycystic kidney disease occurred without linkage to the alpha-hemoglobin complex on chromosome 16 (see PKD1, <a href="/entry/173900">173900</a>). The frequency of recombination exceeded 24%. Clinical findings in this family were indistinguishable from those in other families with the linked disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2843768" 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="Bachner, L., Vinet, M. C., Lacave, R., Babron, M. C., Rondeau, E., Sraer, J. D., Chevet, D., Kaplan, J.-C. <strong>Linkage study of a large family with autosomal dominant polycystic kidney disease with reduced expression: absence of linkage to the PKD1 locus.</strong> Hum. Genet. 85: 221-227, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2370053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2370053</a>] [<a href="https://doi.org/10.1007/BF00193200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2370053">Bachner et al. (1990)</a> described a large 3-generation family with autosomal dominant polycystic kidney disease of clinically unusual form and no linkage to markers on the short arm of chromosome 16. Ultrasonographic screening of 60 family members identified 20 individuals, whose ages ranged from 10 to 80 years, with one or several cysts in only one kidney and 7 individuals with cysts in both kidneys. Others have pointed out that cysts may be unilateral in the early stages of ordinary polycystic kidney disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2370053" 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="Bear, J. C., Parfrey, P. S., Morgan, J. M., Martin, C. J., Cramer, B. C. <strong>Autosomal dominant polycystic kidney disease: new information for genetic counselling.</strong> Am. J. Med. Genet. 43: 548-553, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1605247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1605247</a>] [<a href="https://doi.org/10.1002/ajmg.1320430309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1605247">Bear et al. (1992)</a> reported that in Newfoundland families in which the polycystic kidney disease did not cosegregate with chromosome 16 markers, the age of onset of end-stage renal disease was later (68.7 years) than in persons with chromosome 16-related disease (56.3 years). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1605247" 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="#26" class="mim-tip-reference" title="Ravine, D., Walker, R. G., Gibson, R. N., Forrest, S. M., Richards, R. I., Friend, K., Sheffield, L. J., Kincaid-Smith, P., Danks, D. M. <strong>Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease.</strong> Lancet 340: 1330-1333, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1360045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1360045</a>] [<a href="https://doi.org/10.1016/0140-6736(92)92503-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1360045">Ravine et al. (1992)</a> analyzed 18 families (285 affected members) with mutations at the PKD1 locus and 5 families (49 affected persons) in which involvement at this locus was dismissed. Non-PKD1 patients lived longer than PKD1 patients (median survival, 71.5 vs 56.0 years, respectively), had a lower risk of progressing to renal failure, were less likely to have hypertension, were diagnosed at an older age, and had fewer renal cysts at the time of diagnosis. Although most of the PKD1 families were ascertained through clinics treating patients with renal impairment, no non-PKD1 family was identified through this source. <a href="#26" class="mim-tip-reference" title="Ravine, D., Walker, R. G., Gibson, R. N., Forrest, S. M., Richards, R. I., Friend, K., Sheffield, L. J., Kincaid-Smith, P., Danks, D. M. <strong>Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease.</strong> Lancet 340: 1330-1333, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1360045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1360045</a>] [<a href="https://doi.org/10.1016/0140-6736(92)92503-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1360045">Ravine et al. (1992)</a> suggested that, partly because of the milder phenotype of APKD unlinked to chromosome 16, the reported prevalence of this genotype is probably an underestimate. <a href="#10" class="mim-tip-reference" title="Jeffery, S., Saggar-Malik, A. K., Morgan, S., MacGregor, G. A. <strong>A family with autosomal dominant polycystic kidney disease not linked to chromosome 16p13.3.</strong> Clin. Genet. 44: 173-176, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8261645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8261645</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1993.tb03874.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8261645">Jeffery et al. (1993)</a> also found milder progression of the disease ('less aggressive phenotype') in a Sicilian family with the form unlinked to chromosome 16. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1360045+8261645" 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 8 Spanish families with APKD, <a href="#28" class="mim-tip-reference" title="San Millan, J. L., Viribay, M., Peral, B., Martinez, I., Weissenbach, J., Moreno, F. <strong>Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease type 2.</strong> Am. J. Hum. Genet. 56: 248-253, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7825585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7825585</a>]" pmid="7825585">San Millan et al. (1995)</a> confirmed earlier findings of a milder phenotype with PKD2. While the mean age of onset of end-stage renal disease was 54.2 +/- 8.1 years for PKD1, it was 66.2 +/- 3.3 years for PKD2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7825585" 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="Coto, E., Sanz de Castro, S., Aguado, S., Alvarez, J., Arias, M., Menendez, M. J., Lopez-Larrea, C. <strong>DNA microsatellite analysis of families with autosomal dominant polycystic kidney disease types 1 and 2: evaluation of clinical heterogeneity between both forms of the disease.</strong> J. Med. Genet. 32: 442-445, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7666395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7666395</a>] [<a href="https://doi.org/10.1136/jmg.32.6.442" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7666395">Coto et al. (1995)</a> studied 17 large Spanish families with adult dominant polycystic kidney disease, 5 of which showed linkage to chromosome 4q (PKD2). They found that renal cysts developed at an earlier age in PKD1 mutation carriers, and end-stage renal failure occurred at an older age in people affected with PKD2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7666395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Hateboer, N., v Dijk, M. A., Bogdanova, N., Coto, E., Saggar-Malik, A. K., San Millan, J. L., Torra, R., Breuning, M., Ravine, D. <strong>Comparison of phenotypes of polycystic kidney disease types 1 and 2.</strong> Lancet 353: 103-107, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10023895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10023895</a>] [<a href="https://doi.org/10.1016/s0140-6736(98)03495-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10023895">Hateboer et al. (1999)</a> reported the results of a multicenter study of 333 persons with PKD1 (in 31 families), 291 persons with PKD2 (in 31 families), and 398 geographically matched controls. Median age at death or onset of end-stage renal disease was 53.0 years, 69.1 years, and 68.0 years for PKD1, PKD2, and controls, respectively. Women with PKD2 had a significantly longer median survival than men: 71.0 years versus 67.3 years, but no sex influence was apparent in PKD1. Age at presentation with kidney failure was later in PKD2 than in PKD1 (median age 74.0 vs. 54.3 years). PKD2 patients were less likely to have hypertension, a history of urinary tract infection, or hematuria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10023895" 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="#6" class="mim-tip-reference" title="Deltas, C. C. <strong>Mutations of the human polycystic kidney disease 2 (PKD2) gene.</strong> Hum. Mutat. 18: 13-24, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11438989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11438989</a>] [<a href="https://doi.org/10.1002/humu.1145" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11438989">Deltas (2001)</a> reviewed mutations in the PKD2 gene causing polycystic kidney disease. He repeated the observation that patients with PKD2 mutations run a milder course compared to PKD1 carriers, with an average 10 to 20 years later age of onset and lower probability to reach end-stage renal failure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11438989" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Bergmann, C., Bruchle, N. O., Frank, V., Rehder, H., Zerres, K. <strong>Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation. (Letter)</strong> New Eng. J. Med. 359: 318-319, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18635443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18635443</a>] [<a href="https://doi.org/10.1056/NEJMc0801868" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18635443">Bergmann et al. (2008)</a> reported a 4-generation family carrying a mutation in the PKD2 gene (<a href="/entry/173910#0009">173910.0009</a>) with previously undetected disease, in which 2 fourth-generation sibs died in the perinatal period. The mother's first pregnancy resulted in a healthy girl; the second was complicated by oligohydramnios and massively enlarged hyperechogenic fetal kidneys, and the male infant born at 30 weeks' gestation died shortly after birth from respiratory failure. The third pregnancy was complicated from 20 weeks' gestation forward, and the infant girl born at 34 weeks' gestation also died shortly after birth; renal biopsy showed glomerulocystic kidney disease. Abdominal ultrasound examination revealed no cysts in the mother, but the father had 2 cortical cysts in the left kidney and 3 cysts in the right kidney, and the paternal grandmother and great-grandmother both had bilateral renal cysts. None of the adults had any clinical symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18635443" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bataille, S., Demoulin, N., Devuyst, O., Audrezet, M.-P., Dahan, K., Godin, M., Fontes, M., Pirson, Y., Burtey, S. <strong>Association of PKD2 (polycystin 2) mutations with left-right laterality defects.</strong> Am. J. Kidney Dis. 58: 456-460, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21719175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21719175</a>] [<a href="https://doi.org/10.1053/j.ajkd.2011.05.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21719175">Bataille et al. (2011)</a> reported 3 unrelated probands with PKD2 and laterality defects, including situs inversus and dextrocardia; other members of these families with PKD2 did not have laterality defects. The findings suggested that laterality defects may occur in some patients with PKD2 mutations, as has been demonstrated in animal models (see, e.g., <a href="#23" class="mim-tip-reference" title="Pennekamp, P., Karcher, C., Fischer, A., Schweickert, A., Skryabin, B., Horst, J., Blum, M., Dworniczak, B. <strong>The ion channel polycystin-2 is required for left-right axis determination in mice.</strong> Curr. Biol. 12: 938-943, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12062060/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12062060</a>] [<a href="https://doi.org/10.1016/s0960-9822(02)00869-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12062060">Pennekamp et al., 2002</a>). <a href="#2" class="mim-tip-reference" title="Bataille, S., Demoulin, N., Devuyst, O., Audrezet, M.-P., Dahan, K., Godin, M., Fontes, M., Pirson, Y., Burtey, S. <strong>Association of PKD2 (polycystin 2) mutations with left-right laterality defects.</strong> Am. J. Kidney Dis. 58: 456-460, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21719175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21719175</a>] [<a href="https://doi.org/10.1053/j.ajkd.2011.05.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21719175">Bataille et al. (2011)</a> suggested that laterality defects may represent a qualitative difference between the PKD1 and PKD2 phenotypes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12062060+21719175" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#11" class="mim-tip-reference" title="Khonsari, R. H., Ohazama, A., Raouf, R., Kawasaki, M., Kawasaki, K., Porntaveetus, T., Ghafoor, S., Hammond, P., Suttie, M., Odri, G. A., Sandford, R. N., Wood, J. N., Sharpe, P. T. <strong>Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2).</strong> Hum. Molec. Genet. 22: 1873-1885, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23390131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23390131</a>] [<a href="https://doi.org/10.1093/hmg/ddt041" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23390131">Khonsari et al. (2013)</a> found that mice with conditional deletion of the Pkd2 gene in neural crest-derived cells showed many signs of mechanical trauma to craniofacial structures, such as fractured molar roots, distorted incisors, alveolar bone loss, and compressed temporomandibular joints, as well as abnormal skull shapes. The phenotype was not apparent during embryonic stages, suggesting that postnatal mechanical stress is important for the development of these structures. Three-dimensional photographic analysis of the craniofacial features of 19 human PKD2 patients showed some specific characteristics, including increased facial asymmetry, vertical lengthening of the face and nose, and mild mid-facial hypoplasia. The results suggested that the PKD2 gene plays a role in craniofacial growth as a mechanoreceptor, and that patients with PKD2 mutations may have subtle craniofacial features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23390131" 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>PKD2 is an autosomal dominant form of PKD (ADPKD).</p><p><a href="#18" class="mim-tip-reference" title="Losekoot, M., Ruivenkamp, C. A. L., Tholens, A. P., Grimbergen, J. E. M. A., Vijfhuizen, L., Vermeer, S., Dijkman, H. B., Cornelissen, E. A. M., Bongers, E. M. H. F., Peters, D. J. M. <strong>Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy.</strong> J. Med. Genet. 49: 37-40, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22114106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22114106</a>] [<a href="https://doi.org/10.1136/jmedgenet-2011-100452" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22114106">Losekoot et al. (2012)</a> reported an unusual case in which a male infant presented with neonatal onset of severe polycystic kidney disease. Molecular analysis showed that he was homozygous for a PKD2 missense variant (L656W) resulting from maternal uniparental disomy. He presented at birth with a distended abdomen, and renal biopsy showed polycystic kidney disease. Renal function was abnormal in the first week of life, but improved. He did not have proteinuria or hematuria at age 13 years and was treated for hypertension. Serial ultrasounds showed that he continued to develop renal cysts, as well as cysts in the prostate and epididymis. At age 18 years, he had no symptoms except for occasional flank pain. Liver imaging and function were normal. Each parent was unaffected and there was no family history of renal disease, even though the mother carried the variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22114106" 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="#12" class="mim-tip-reference" title="Kimberling, W. J., Fain, P. R., Kenyon, J. B., Goldgar, D., Sujansky, E., Gabow, P. A. <strong>Linkage heterogeneity of autosomal dominant polycystic kidney disease.</strong> New Eng. J. Med. 319: 913-918, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2843768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2843768</a>] [<a href="https://doi.org/10.1056/NEJM198810063191405" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2843768">Kimberling et al. (1988)</a> described a 5-generation kindred, descendants of Sicilian immigrants to the United States, in which autosomal dominant polycystic kidney disease occurred without linkage to the alpha-hemoglobin complex on chromosome 16 (see PKD1, <a href="/entry/173900">173900</a>). The frequency of recombination exceeded 24%. <a href="#27" class="mim-tip-reference" title="Romeo, G., Devoto, M., Costa, G., Roncuzzi, L., Catizone, L., Zucchelli, P., Germino, G.-G., Keith, T., Weatherall, D. J., Reeders, S. T. <strong>A second genetic locus for autosomal dominant polycystic kidney disease.</strong> Lancet 332: 8-11, 1988. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2898665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2898665</a>] [<a href="https://doi.org/10.1016/s0140-6736(88)92943-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2898665">Romeo et al. (1988)</a> described another Italian family with autosomal dominant polycystic kidney disease unlinked to the alpha-hemoglobin complex. On the basis of linkage studies, <a href="#25" class="mim-tip-reference" title="Pieke, S. A., Kimberling, W. J., Kenyon, J. B., Gabow, P. <strong>Genetic heterogeneity of polycystic kidney disease: an estimate of the proportion of families unlinked to chromosome 16. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A58 only, 1989."None>Pieke et al. (1989)</a> concluded that all except 2 of 69 families had a posterior likelihood greater than 90% for linkage with 16p markers. <a href="#7" class="mim-tip-reference" title="Elles, R. G., Read, A. P., Hodgkinson, K. A., Watters, A., Harris, R. <strong>Recombination or heterogeneity: is there a second locus for adult polycystic kidney disease?</strong> J. Med. Genet. 27: 413-417, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1975629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1975629</a>] [<a href="https://doi.org/10.1136/jmg.27.7.413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1975629">Elles et al. (1990)</a> reported 2 families suggesting a second locus for PKD. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2898665+1975629+2843768" 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 the Sicilian family with PKD found to be unlinked to chromosome 16 by <a href="#12" class="mim-tip-reference" title="Kimberling, W. J., Fain, P. R., Kenyon, J. B., Goldgar, D., Sujansky, E., Gabow, P. A. <strong>Linkage heterogeneity of autosomal dominant polycystic kidney disease.</strong> New Eng. J. Med. 319: 913-918, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2843768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2843768</a>] [<a href="https://doi.org/10.1056/NEJM198810063191405" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2843768">Kimberling et al. (1988)</a>, <a href="#17" class="mim-tip-reference" title="Kumar, S., Kimberling, W. J., Gabow, P. A., Shugart, Y. Y., Pieke-Dahl, S. <strong>Exclusion of autosomal dominant polycystic kidney disease type II (ADPKD2) from 160 cM of chromosome 1.</strong> J. Med. Genet. 27: 697-700, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1980516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1980516</a>] [<a href="https://doi.org/10.1136/jmg.27.11.697" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1980516">Kumar et al. (1990)</a> performed linkage studies and excluded the locus from about 61% of chromosome 1, including segments of the long and short arms. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2843768+1980516" 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>On the basis of linkage findings in a large Danish kindred with the 'unlinked' form of APKD, <a href="#20" class="mim-tip-reference" title="Norby, S., Schwartz, M. <strong>Possible locus for polycystic kidney disease on chromosome 2. (Letter)</strong> Lancet 336: 323-324, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1974020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1974020</a>] [<a href="https://doi.org/10.1016/0140-6736(90)91870-g" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1974020">Norby and Schwartz (1990)</a> suggested that the locus might be on chromosome 2. With the marker D2S44 on 2q, a maximum lod score of 2.12 was obtained at theta = 0.10. <a href="#24" class="mim-tip-reference" title="Peters, D. J. M., Spruit, L., Saris, J. J., Ravine, D., Sandkuijl, L. A., Fossdal, R., Boersma, J., van Eijk, R., Norby, S., Constantinou-Deltas, C. D., Pierides, A., Brissenden, J. E., Frants, R. R., van Ommen, G.-J. B., Breuning, M. H. <strong>Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease.</strong> Nature Genet. 5: 359-362, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298643</a>] [<a href="https://doi.org/10.1038/ng1293-359" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8298643">Peters et al. (1993)</a> later showed that the disorder in this Danish kindred was linked to 4q. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1974020+8298643" 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 Iceland, <a href="#8" class="mim-tip-reference" title="Fossdal, R., Bothvarsson, M., Asmundsson, P., Ragnarsson, J., Peters, D., Breuning, M. H., Jensson, O. <strong>Icelandic families with autosomal dominant polycystic kidney disease: families unlinked to chromosome 16p13.3 revealed by linkage analysis.</strong> Hum. Genet. 91: 609-613, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8340115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8340115</a>] [<a href="https://doi.org/10.1007/BF00205089" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8340115">Fossdal et al. (1993)</a> found that 3 of 7 families were 'unlinked' to 16p13.3 and that in one of the 'unlinked' families, the disease locus was excluded from a part of the long arm of chromosome 2. Other evidence suggested conclusively that the gene for the 'unlinked' form of the disease is located on chromosome 4. Using highly polymorphic microsatellite DNA markers, <a href="#24" class="mim-tip-reference" title="Peters, D. J. M., Spruit, L., Saris, J. J., Ravine, D., Sandkuijl, L. A., Fossdal, R., Boersma, J., van Eijk, R., Norby, S., Constantinou-Deltas, C. D., Pierides, A., Brissenden, J. E., Frants, R. R., van Ommen, G.-J. B., Breuning, M. H. <strong>Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease.</strong> Nature Genet. 5: 359-362, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298643</a>] [<a href="https://doi.org/10.1038/ng1293-359" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8298643">Peters et al. (1993)</a> found linkage with markers D4S231 and D4S423, giving a multipoint lod score of 22.42. The 2 markers are located on 4q. It was suggested that the gene in this case is located in the region 4q21-q23. <a href="#24" class="mim-tip-reference" title="Peters, D. J. M., Spruit, L., Saris, J. J., Ravine, D., Sandkuijl, L. A., Fossdal, R., Boersma, J., van Eijk, R., Norby, S., Constantinou-Deltas, C. D., Pierides, A., Brissenden, J. E., Frants, R. R., van Ommen, G.-J. B., Breuning, M. H. <strong>Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease.</strong> Nature Genet. 5: 359-362, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298643</a>] [<a href="https://doi.org/10.1038/ng1293-359" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8298643">Peters et al. (1993)</a> stated that roughly 86% of affected European families have their renal disorder on the basis of a mutation on 16p. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8298643+8340115" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a study of 24 families with adult-onset polycystic kidney disease, <a href="#13" class="mim-tip-reference" title="Kimberling, W. J., Kumar, S., Gabow, P. A., Kenyon, J. B., Connolly, C. J., Somlo, S. <strong>Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23.</strong> Genomics 18: 467-472, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8307555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8307555</a>] [<a href="https://doi.org/10.1016/s0888-7543(11)80001-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8307555">Kimberling et al. (1993)</a> independently mapped the second autosomal dominant polycystic kidney disease locus to 4q in a 9-cM segment flanked by D4S231 and D4S414. The kindred was a large one previously described by Kumar et al. (<a href="#17" class="mim-tip-reference" title="Kumar, S., Kimberling, W. J., Gabow, P. A., Shugart, Y. Y., Pieke-Dahl, S. <strong>Exclusion of autosomal dominant polycystic kidney disease type II (ADPKD2) from 160 cM of chromosome 1.</strong> J. Med. Genet. 27: 697-700, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1980516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1980516</a>] [<a href="https://doi.org/10.1136/jmg.27.11.697" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1980516">1990</a>, <a href="#16" class="mim-tip-reference" title="Kumar, S., Kimberling, W. J., Gabow, P. A., Kenyon, J. B. <strong>Genetic linkage studies of autosomal dominant polycystic kidney disease: search for the second gene in a large Sicilian family.</strong> Hum. Genet. 87: 129-133, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1676697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1676697</a>] [<a href="https://doi.org/10.1007/BF00204167" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1676697">1991</a>). The original ancestors immigrated to America from Sicily and members of the kindred had been cared for in Colorado for 20 years. Lod scores with the 2 flanking markers were 5.98 and 10.12, respectively, for a recombination fraction of 0.05. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1676697+1980516+8307555" 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 8 Spanish families with APKD unlinked to 16p13.3, <a href="#28" class="mim-tip-reference" title="San Millan, J. L., Viribay, M., Peral, B., Martinez, I., Weissenbach, J., Moreno, F. <strong>Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease type 2.</strong> Am. J. Hum. Genet. 56: 248-253, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7825585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7825585</a>]" pmid="7825585">San Millan et al. (1995)</a> determined that the gene was closely linked to the marker D4S423; maximum lod score = 9.03 at theta = 0.00. Multipoint linkage analysis, as well as a study of recombinant haplotypes, placed the PKD2 locus between D4S1542 and D4S1563, which defines a genetic interval of approximately 1 cM. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7825585" 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>Also in Spain, <a href="#5" class="mim-tip-reference" title="Coto, E., Sanz de Castro, S., Aguado, S., Alvarez, J., Arias, M., Menendez, M. J., Lopez-Larrea, C. <strong>DNA microsatellite analysis of families with autosomal dominant polycystic kidney disease types 1 and 2: evaluation of clinical heterogeneity between both forms of the disease.</strong> J. Med. Genet. 32: 442-445, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7666395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7666395</a>] [<a href="https://doi.org/10.1136/jmg.32.6.442" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7666395">Coto et al. (1995)</a> arrived at similar conclusions. They studied 17 large families with adult dominant polycystic kidney disease using ultrasonography and DNA microsatellite markers in 17 large families. Five of the 17 families showed negative linkage for 16p13.3 markers; in these families, significant linkage to 4q was observed. No evidence of another locus was found. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7666395" 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="#19" class="mim-tip-reference" title="Mochizuki, T., Wu, G., Hayashi, T., Xenophontos, S. L., Veldhuisen, B., Saris, J. J., Reynolds, D. M., Cai, Y., Gabow, P. A., Pierides, A., Kimberling, W. J., Breuning, M. H., Constantinou Deltas, C., Peters, D. J. M., Somlo, S. <strong>PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.</strong> Science 272: 1339-1342, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8650545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8650545</a>] [<a href="https://doi.org/10.1126/science.272.5266.1339" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8650545">Mochizuki et al. (1996)</a> reported the isolation and characterization of a candidate gene for PKD2 on chromosome 4. They analyzed the PKD2 gene in affected individuals in 3 families with PKD2. Three nonsense mutations in the PKD2 gene were identified in affected individuals; see <a href="/entry/173910#0001">173910.0001</a>, <a href="/entry/173910#0002">173910.0002</a>, and <a href="/entry/173910#0003">173910.0003</a>. These mutations were not present in controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8650545" 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="#31" class="mim-tip-reference" title="Viribay, M., Hayashi, T., Telleria, D., Mochizuki, T., Reynolds, D. M., Alonso, R., Lens, X. M., Moreno, F., Harris, P. C., Somlo, S., San Millan, J. L. <strong>Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene.</strong> Hum. Genet. 101: 229-234, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9402976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9402976</a>] [<a href="https://doi.org/10.1007/s004390050621" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9402976">Viribay et al. (1997)</a> used heteroduplex and SSCP analyses in a systematic mutation screening of all 15 exons of the PKD2 gene in chromosome 4-linked ADPKD families. They identified and characterized 7 novel mutations, with a detection rate of approximately 90% in the populations studied. All of the mutations resulted in the premature stop of translation (see, e.g., <a href="/entry/173910#0005">173910.0005</a>). All the mutations were unique and were distributed throughout the gene without evidence of clustering. Comparison of specific mutations with a clinical profile in these families showed no clear correlation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9402976" 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="#30" class="mim-tip-reference" title="Veldhuisen, B., Saris, J. J., de Haij, S., Hayashi, T., Reynolds, D. M., Mochizuki, T., Elles, R., Fossdal, R., Bogdanova, N., van Dijk, M. A., Coto, E., Ravine, D., Norby, S., Verellen-Dumoulin, C., Breuning, M. H., Somlo, S., Peters, D. J. M. <strong>A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).</strong> Am. J. Hum. Genet. 61: 547-555, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9326320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9326320</a>] [<a href="https://doi.org/10.1086/515497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9326320">Veldhuisen et al. (1997)</a> systematically screened the PKD2 gene for mutations by SSCP analysis in 35 families with ADPKD and identified 20 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9326320" 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="#21" class="mim-tip-reference" title="Pei, Y., He, N., Wang, K., Kasenda, M., Paterson, A. D., Chan, G., Liang, Y., Roscoe, J., Brissenden, J., Hefferton, D., Parfrey, P., Somlo, S., St. George-Hyslop, P. <strong>A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds.</strong> J. Am. Soc. Nephrol. 9: 1853-1860, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9773786/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9773786</a>] [<a href="https://doi.org/10.1681/ASN.V9101853" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9773786">Pei et al. (1998)</a> screened for PKD2 mutations in 11 Canadian families with ADPKD. In 4 families, linkage to PKD2 had been documented; in the remaining 7 smaller families, one or more affected members had late-onset end-stage renal disease at age 70 or older, a feature suggesting PKD2. <a href="#21" class="mim-tip-reference" title="Pei, Y., He, N., Wang, K., Kasenda, M., Paterson, A. D., Chan, G., Liang, Y., Roscoe, J., Brissenden, J., Hefferton, D., Parfrey, P., Somlo, S., St. George-Hyslop, P. <strong>A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds.</strong> J. Am. Soc. Nephrol. 9: 1853-1860, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9773786/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9773786</a>] [<a href="https://doi.org/10.1681/ASN.V9101853" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9773786">Pei et al. (1998)</a> found mutations in 8 of the 11 families, with no difference in the detection rate between the PKD2-linked families and the families with late-onset ESRD. In 3 unrelated families, insertion or deletion of an adenosine in a polyadenosine tract, (A)8 at nucleotides 2152-2159, was found in exon 11, suggesting that this mononucleotide repeat tract is prone to mutations from 'slipped strand mispairing.' All the mutations, scattered between exons 1 and 11, were predicted to result in a truncated polycystin-2 that lacks both the calcium-binding EF-hand domain and the 2 cytoplasmic domains required for the interaction of polycystin-2 with polycystin-1 and with itself. Furthermore, no correlation was found between the location of the mutations in the PKD2 coding sequence and disease severity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9773786" 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 both kidneys of a patient with PKD2, <a href="#14" class="mim-tip-reference" title="Koptides, M., Hadjimichael, C., Koupepidou, P., Pierides, A., Deltas, C. C. <strong>Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.</strong> Hum. Molec. Genet. 8: 509-513, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9949210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9949210</a>] [<a href="https://doi.org/10.1093/hmg/8.3.509" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9949210">Koptides et al. (1999)</a> identified, for the first time, multiple novel somatic mutations within the PKD2 gene of epithelial cells. The family involved in this case had previously been shown to possess a 1-bp insertion (<a href="/entry/173910#0004">173910.0004</a>) as the germline mutation. In 7 (33%) of 21 cysts examined, the authors identified a different 1-bp insertion (<a href="/entry/173910#0007">173910.0007</a>) within the inherited wildtype allele. In 2 other cysts, a nonsense mutation and a splice site deletion had occurred in a PKD2 allele that could not be identified as the inherited wildtype or mutant. <a href="#14" class="mim-tip-reference" title="Koptides, M., Hadjimichael, C., Koupepidou, P., Pierides, A., Deltas, C. C. <strong>Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.</strong> Hum. Molec. Genet. 8: 509-513, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9949210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9949210</a>] [<a href="https://doi.org/10.1093/hmg/8.3.509" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9949210">Koptides et al. (1999)</a> suggested that the autosomal dominant form of PKD2 occurs by a cellular recessive mechanism, supporting a 2-hit model for cyst formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9949210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Koptides, M., Mean, R., Demetriou, K., Pierides, A., Deltas, C. C. <strong>Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease.</strong> Hum. Molec. Genet. 9: 447-452, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10655555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10655555</a>] [<a href="https://doi.org/10.1093/hmg/9.3.447" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10655555">Koptides et al. (2000)</a> provided the first direct genetic evidence that polycystins 1 and 2 interact, perhaps as part of a larger complex. In cystic DNA from a kidney of a patient with autosomal dominant PKD1, the authors showed somatic mutations not only in the PKD1 gene of certain cysts, but also in the PKD2 gene of others, generating a transheterozygous state with mutations in both genes. The mutation in PKD1 was of germinal nature and the mutation in PKD2 was of somatic nature. The authors stated that to their knowledge there was no precedent to the transheterozygous model as a mechanism for human disease development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10655555" 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="#32" class="mim-tip-reference" title="Watnick, T., He, N., Wang, K., Liang, Y., Parfrey, P., Hefferton, D., St. George-Hyslop, P., Germino, G., Pei, Y. <strong>Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.</strong> Nature Genet. 25: 143-144, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10835625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10835625</a>] [<a href="https://doi.org/10.1038/75981" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10835625">Watnick et al. (2000)</a> found somatic mutations of PKD2 in 71% of ADPKD2 cysts analyzed. They found clonal somatic mutations of PKD1 in a subset of cysts that lacked PKD2 mutations. In 10 cysts, they demonstrated that the wildtype PKD2 allele had acquired the mutation. They found 3 PKD2 cysts with somatic PKD1 mutations in each cyst; comprehensive screening of the entire PKD2 coding sequence was negative. They referred to this as a pathogenic effect of transheterozygous mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10835625" 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="#29" class="mim-tip-reference" title="Torra, R., Badenas, C., San Millan, J. L., Perez-Oller, L., Estivill, X., Darnell, A. <strong>A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.</strong> Am. J. Hum. Genet. 65: 345-352, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10417277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10417277</a>] [<a href="https://doi.org/10.1086/302501" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10417277">Torra et al. (1999)</a> sought to demonstrate that somatic mutations are present in renal cysts from a PKD2 kidney. They studied 30 renal cysts from a patient with PKD2 in whom the germline mutation was shown to be a deletion that encompassed most of the gene. Loss of heterozygosity (LOH) studies showed loss of a wildtype allele in 10% of cysts. Screening of 6 exons of the gene by SSCP detected 8 different somatic mutations, all of which were expected to produce truncated proteins. Overall, more than 37% of the cysts studied represented somatic mutations. No LOH for the PKD1 gene or locus D3S1478 on chromosome 3 was observed in those cysts, which demonstrated that somatic alterations were specific. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10417277" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Pei, Y., Paterson, A. D., Wang, K. R., He, N., Hefferton, D., Watnick, T., Germino, G. G., Parfrey, P., Somlo, S., St. George-Hyslop, P. <strong>Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.</strong> Am. J. Hum. Genet. 68: 355-363, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11156533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11156533</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11156533[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/10.1086/318188" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11156533">Pei et al. (2001)</a> reported studies of an extensively affected Newfoundland family in which it appeared that there was bilineal disease from independently segregating PKD1 and PKD2 mutations. A PKD2 mutation (2152delA; L736X) was found in 12 affected pedigree members. In addition, when the disease status of these individuals was coded as unknown in linkage analysis, they found, with markers at the PKD1 locus, significant lod scores, i.e., greater than 3.0. The findings strongly supported the presence of a PKD1 mutation in 15 other affected pedigree members, who lacked the PKD2 mutation. Two additional affected individuals had transheterozygous mutations involving both genes, and they had renal disease that was more severe than that in affected individuals who had either mutation alone. This was said to be the first demonstration of bilineal disease in ADPKD. In humans, transheterozygous mutations involving both PKD1 and PKD2 are not necessarily embryonically lethal. The authors concluded that the presence of bilineal disease as a confounder needs to be considered in the search for the PKD3 locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11156533" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of 2 unrelated families with polycystic kidney disease, <a href="#2" class="mim-tip-reference" title="Bataille, S., Demoulin, N., Devuyst, O., Audrezet, M.-P., Dahan, K., Godin, M., Fontes, M., Pirson, Y., Burtey, S. <strong>Association of PKD2 (polycystin 2) mutations with left-right laterality defects.</strong> Am. J. Kidney Dis. 58: 456-460, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21719175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21719175</a>] [<a href="https://doi.org/10.1053/j.ajkd.2011.05.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21719175">Bataille et al. (2011)</a> identified 2 different heterozygous mutations in the PKD2 gene (<a href="/entry/173910#0010">173910.0010</a> and <a href="/entry/173910#0011">173910.0011</a>). In addition to kidney disease, the proband from each of the families also showed laterality defects, including situs inversus and dextrocardia, that were not seen in other affected family members. A third proband with PKD2 and a large 80-kb deletion involving PKD2 and ABCG2 (<a href="/entry/603756">603756</a>) also had laterality defects. The findings suggested that laterality defects may occur in some patients with PKD2 mutations, as has been demonstrated in animal models (see, e.g., <a href="#23" class="mim-tip-reference" title="Pennekamp, P., Karcher, C., Fischer, A., Schweickert, A., Skryabin, B., Horst, J., Blum, M., Dworniczak, B. <strong>The ion channel polycystin-2 is required for left-right axis determination in mice.</strong> Curr. Biol. 12: 938-943, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12062060/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12062060</a>] [<a href="https://doi.org/10.1016/s0960-9822(02)00869-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12062060">Pennekamp et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12062060+21719175" 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="#33" class="mim-tip-reference" title="Wu, G., D'Agati, V., Cai, Y., Markowitz, G., Park, J. H., Reynolds, D. M., Maeda, Y., Le, T. C., Hou, H., Jr., Kucherlapati, R., Edelmann, W., Somlo, S. <strong>Somatic inactivation of Pkd2 results in polycystic kidney disease.</strong> Cell 93: 177-188, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9568711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9568711</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81570-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9568711">Wu et al. (1998)</a> introduced a mutant exon 1 in tandem with the wildtype exon 1 at the mouse Pkd2 locus. This was an unstable allele that underwent somatic inactivation by intragenic homologous recombination to produce a true null Pkd2 allele. Mice heterozygous and homozygous for this mutation develop polycystic kidney and liver lesions that are indistinguishable from the human phenotype. In all cases, renal cysts arise from renal tubular cells that lose the capacity to produce Pkd2 protein. <a href="#33" class="mim-tip-reference" title="Wu, G., D'Agati, V., Cai, Y., Markowitz, G., Park, J. H., Reynolds, D. M., Maeda, Y., Le, T. C., Hou, H., Jr., Kucherlapati, R., Edelmann, W., Somlo, S. <strong>Somatic inactivation of Pkd2 results in polycystic kidney disease.</strong> Cell 93: 177-188, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9568711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9568711</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81570-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9568711">Wu et al. (1998)</a> concluded that somatic loss of Pkd2 expression is both necessary and sufficient for renal cyst formation in ADPKD, suggesting that PKD2 occurs by a cellular recessive mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9568711" 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="#34" class="mim-tip-reference" title="Wu, G., Markowitz, G. S., Li, L., D'Agati, V. D., Factor, S. M., Geng, L., Tibara, S., Tuchman, J., Cai, Y., Park, J. H., van Adelsberg, J., Hou, H., Jr., Kucherlapati, R., Edelmann, W., Somlo, S. <strong>Cardiac defects and renal failure in mice with targeted mutations in Pkd2.</strong> Nature Genet. 24: 75-78, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10615132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10615132</a>] [<a href="https://doi.org/10.1038/71724" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10615132">Wu et al. (2000)</a> induced 2 mutations in the mouse homolog Pkd2: an unstable allele that can undergo homologous recombination-based somatic rearrangement to form a null allele; and a true null allele. They examined these mutations to understand the function of polycystin-2 and to provide evidence that kidney and liver cyst formation associated with Pkd2 deficiency occurs by a 2-hit mechanism. They found that Pkd2 -/- mice die in utero between embryonic day (E) 13.5 and parturition. They have structural defects in cardiac septation and cyst formation in maturing nephrons and pancreatic ducts. Pancreatic ductal cysts also occur in adult Pkd2 mice heterozygous for the unstable allele, suggesting that this clinical manifestation of ADPKD also occurs by a 2-hit mechanism. As in human ADPKD, formation of kidney cysts in adult mice heterozygous for the unstable allele is associated with renal failure and early death (median survival, 65 weeks vs 94 weeks for controls). Adult mice heterozygous for the null mutation have intermediate survival despite absence of cystic disease or renal failure, providing the first indication of a deleterious effect of haploinsufficiency at Pkd2 on long-term survival. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10615132" 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 further information on animal models of PKD2, see <a href="/entry/173910">173910</a>.</p>
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Bataille, S., Demoulin, N., Devuyst, O., Audrezet, M.-P., Dahan, K., Godin, M., Fontes, M., Pirson, Y., Burtey, S.
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<strong>Association of PKD2 (polycystin 2) mutations with left-right laterality defects.</strong>
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Am. J. Kidney Dis. 58: 456-460, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21719175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21719175</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21719175" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bear, J. C., Parfrey, P. S., Morgan, J. M., Martin, C. J., Cramer, B. C.
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Bergmann, C., Bruchle, N. O., Frank, V., Rehder, H., Zerres, K.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7666395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7666395</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7666395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8340115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8340115</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8340115" 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/10.1007/BF00205089" target="_blank">Full Text</a>]
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Hateboer, N., v Dijk, M. A., Bogdanova, N., Coto, E., Saggar-Malik, A. K., San Millan, J. L., Torra, R., Breuning, M., Ravine, D.
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[<a href="https://doi.org/10.1056/NEJM198810063191405" target="_blank">Full Text</a>]
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Ravine, D., Walker, R. G., Gibson, R. N., Forrest, S. M., Richards, R. I., Friend, K., Sheffield, L. J., Kincaid-Smith, P., Danks, D. M.
|
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<strong>Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease.</strong>
|
|
Lancet 340: 1330-1333, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1360045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1360045</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1360045" 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/10.1016/0140-6736(92)92503-8" target="_blank">Full Text</a>]
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<a id="27" class="mim-anchor"></a>
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<a id="Romeo1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Romeo, G., Devoto, M., Costa, G., Roncuzzi, L., Catizone, L., Zucchelli, P., Germino, G.-G., Keith, T., Weatherall, D. J., Reeders, S. T.
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|
<strong>A second genetic locus for autosomal dominant polycystic kidney disease.</strong>
|
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Lancet 332: 8-11, 1988. Note: Originally Volume II.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2898665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2898665</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2898665" 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/s0140-6736(88)92943-1" target="_blank">Full Text</a>]
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<a id="28" class="mim-anchor"></a>
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<a id="San Millan1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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San Millan, J. L., Viribay, M., Peral, B., Martinez, I., Weissenbach, J., Moreno, F.
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<strong>Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease type 2.</strong>
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Am. J. Hum. Genet. 56: 248-253, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7825585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7825585</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7825585" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="29" class="mim-anchor"></a>
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<a id="Torra1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Torra, R., Badenas, C., San Millan, J. L., Perez-Oller, L., Estivill, X., Darnell, A.
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<strong>A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.</strong>
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Am. J. Hum. Genet. 65: 345-352, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10417277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10417277</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10417277" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/302501" target="_blank">Full Text</a>]
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<a id="30" class="mim-anchor"></a>
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<a id="Veldhuisen1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Veldhuisen, B., Saris, J. J., de Haij, S., Hayashi, T., Reynolds, D. M., Mochizuki, T., Elles, R., Fossdal, R., Bogdanova, N., van Dijk, M. A., Coto, E., Ravine, D., Norby, S., Verellen-Dumoulin, C., Breuning, M. H., Somlo, S., Peters, D. J. M.
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<strong>A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).</strong>
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Am. J. Hum. Genet. 61: 547-555, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9326320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9326320</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9326320" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/515497" target="_blank">Full Text</a>]
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<a id="31" class="mim-anchor"></a>
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<a id="Viribay1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Viribay, M., Hayashi, T., Telleria, D., Mochizuki, T., Reynolds, D. M., Alonso, R., Lens, X. M., Moreno, F., Harris, P. C., Somlo, S., San Millan, J. L.
|
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<strong>Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene.</strong>
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Hum. Genet. 101: 229-234, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9402976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9402976</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9402976" 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/10.1007/s004390050621" target="_blank">Full Text</a>]
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<a id="32" class="mim-anchor"></a>
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<a id="Watnick2000" class="mim-anchor"></a>
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<p class="mim-text-font">
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Watnick, T., He, N., Wang, K., Liang, Y., Parfrey, P., Hefferton, D., St. George-Hyslop, P., Germino, G., Pei, Y.
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<strong>Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.</strong>
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Nature Genet. 25: 143-144, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10835625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10835625</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10835625" 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/10.1038/75981" target="_blank">Full Text</a>]
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<a id="33" class="mim-anchor"></a>
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<a id="Wu1998" class="mim-anchor"></a>
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<div class="">
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Wu, G., D'Agati, V., Cai, Y., Markowitz, G., Park, J. H., Reynolds, D. M., Maeda, Y., Le, T. C., Hou, H., Jr., Kucherlapati, R., Edelmann, W., Somlo, S.
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<strong>Somatic inactivation of Pkd2 results in polycystic kidney disease.</strong>
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Cell 93: 177-188, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9568711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9568711</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9568711" 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/s0092-8674(00)81570-6" target="_blank">Full Text</a>]
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<a id="34" class="mim-anchor"></a>
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<a id="Wu2000" class="mim-anchor"></a>
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<div class="">
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Wu, G., Markowitz, G. S., Li, L., D'Agati, V. D., Factor, S. M., Geng, L., Tibara, S., Tuchman, J., Cai, Y., Park, J. H., van Adelsberg, J., Hou, H., Jr., Kucherlapati, R., Edelmann, W., Somlo, S.
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<strong>Cardiac defects and renal failure in mice with targeted mutations in Pkd2.</strong>
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Nature Genet. 24: 75-78, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10615132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10615132</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10615132" 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/10.1038/71724" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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 : 7/1/2013
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 2/21/2013<br>Cassandra L. Kniffin - updated : 4/25/2012
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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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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Matthew B. Gross : 10/16/2009
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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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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carol : 05/04/2022
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<span class="mim-text-font">
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carol : 04/11/2022<br>carol : 04/05/2022<br>alopez : 04/04/2022<br>joanna : 02/22/2022<br>carol : 02/21/2018<br>ckniffin : 02/19/2018<br>carol : 02/08/2018<br>carol : 08/07/2017<br>ckniffin : 04/25/2017<br>carol : 04/25/2017<br>carol : 04/25/2017<br>carol : 10/21/2016<br>carol : 07/02/2013<br>ckniffin : 7/1/2013<br>carol : 2/25/2013<br>ckniffin : 2/21/2013<br>carol : 4/26/2012<br>ckniffin : 4/25/2012<br>mgross : 10/16/2009
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<span class="mim-font">
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<strong>#</strong> 613095
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<h3>
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POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2
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</h3>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE II; APKD2
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 253879006;
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<strong>ORPHA:</strong> 730;
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<strong>DO:</strong> 0110859;
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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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<div>
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<table class="table table-bordered table-condensed 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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</tr>
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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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4q22.1
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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 2
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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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613095
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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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Autosomal dominant
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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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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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PKD2
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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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173910
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</span>
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</td>
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</table>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because polycystic kidney disease-2 with or without polycystic liver disease (PKD2) is caused by heterozygous mutation in the gene encoding polycystin-2 (PKD2; 173910) on chromosome 4q22.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (173900).</p>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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<p>Kimberling et al. (1988) described a 5-generation kindred, descendants of Sicilian immigrants to the United States, in which autosomal dominant polycystic kidney disease occurred without linkage to the alpha-hemoglobin complex on chromosome 16 (see PKD1, 173900). The frequency of recombination exceeded 24%. Clinical findings in this family were indistinguishable from those in other families with the linked disease. </p><p>Bachner et al. (1990) described a large 3-generation family with autosomal dominant polycystic kidney disease of clinically unusual form and no linkage to markers on the short arm of chromosome 16. Ultrasonographic screening of 60 family members identified 20 individuals, whose ages ranged from 10 to 80 years, with one or several cysts in only one kidney and 7 individuals with cysts in both kidneys. Others have pointed out that cysts may be unilateral in the early stages of ordinary polycystic kidney disease. </p><p>Bear et al. (1992) reported that in Newfoundland families in which the polycystic kidney disease did not cosegregate with chromosome 16 markers, the age of onset of end-stage renal disease was later (68.7 years) than in persons with chromosome 16-related disease (56.3 years). </p><p>Ravine et al. (1992) analyzed 18 families (285 affected members) with mutations at the PKD1 locus and 5 families (49 affected persons) in which involvement at this locus was dismissed. Non-PKD1 patients lived longer than PKD1 patients (median survival, 71.5 vs 56.0 years, respectively), had a lower risk of progressing to renal failure, were less likely to have hypertension, were diagnosed at an older age, and had fewer renal cysts at the time of diagnosis. Although most of the PKD1 families were ascertained through clinics treating patients with renal impairment, no non-PKD1 family was identified through this source. Ravine et al. (1992) suggested that, partly because of the milder phenotype of APKD unlinked to chromosome 16, the reported prevalence of this genotype is probably an underestimate. Jeffery et al. (1993) also found milder progression of the disease ('less aggressive phenotype') in a Sicilian family with the form unlinked to chromosome 16. </p><p>In 8 Spanish families with APKD, San Millan et al. (1995) confirmed earlier findings of a milder phenotype with PKD2. While the mean age of onset of end-stage renal disease was 54.2 +/- 8.1 years for PKD1, it was 66.2 +/- 3.3 years for PKD2. </p><p>Coto et al. (1995) studied 17 large Spanish families with adult dominant polycystic kidney disease, 5 of which showed linkage to chromosome 4q (PKD2). They found that renal cysts developed at an earlier age in PKD1 mutation carriers, and end-stage renal failure occurred at an older age in people affected with PKD2. </p><p>Hateboer et al. (1999) reported the results of a multicenter study of 333 persons with PKD1 (in 31 families), 291 persons with PKD2 (in 31 families), and 398 geographically matched controls. Median age at death or onset of end-stage renal disease was 53.0 years, 69.1 years, and 68.0 years for PKD1, PKD2, and controls, respectively. Women with PKD2 had a significantly longer median survival than men: 71.0 years versus 67.3 years, but no sex influence was apparent in PKD1. Age at presentation with kidney failure was later in PKD2 than in PKD1 (median age 74.0 vs. 54.3 years). PKD2 patients were less likely to have hypertension, a history of urinary tract infection, or hematuria. </p><p>Deltas (2001) reviewed mutations in the PKD2 gene causing polycystic kidney disease. He repeated the observation that patients with PKD2 mutations run a milder course compared to PKD1 carriers, with an average 10 to 20 years later age of onset and lower probability to reach end-stage renal failure. </p><p>Bergmann et al. (2008) reported a 4-generation family carrying a mutation in the PKD2 gene (173910.0009) with previously undetected disease, in which 2 fourth-generation sibs died in the perinatal period. The mother's first pregnancy resulted in a healthy girl; the second was complicated by oligohydramnios and massively enlarged hyperechogenic fetal kidneys, and the male infant born at 30 weeks' gestation died shortly after birth from respiratory failure. The third pregnancy was complicated from 20 weeks' gestation forward, and the infant girl born at 34 weeks' gestation also died shortly after birth; renal biopsy showed glomerulocystic kidney disease. Abdominal ultrasound examination revealed no cysts in the mother, but the father had 2 cortical cysts in the left kidney and 3 cysts in the right kidney, and the paternal grandmother and great-grandmother both had bilateral renal cysts. None of the adults had any clinical symptoms. </p><p>Bataille et al. (2011) reported 3 unrelated probands with PKD2 and laterality defects, including situs inversus and dextrocardia; other members of these families with PKD2 did not have laterality defects. The findings suggested that laterality defects may occur in some patients with PKD2 mutations, as has been demonstrated in animal models (see, e.g., Pennekamp et al., 2002). Bataille et al. (2011) suggested that laterality defects may represent a qualitative difference between the PKD1 and PKD2 phenotypes. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Other Features</strong>
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</h4>
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<p>Khonsari et al. (2013) found that mice with conditional deletion of the Pkd2 gene in neural crest-derived cells showed many signs of mechanical trauma to craniofacial structures, such as fractured molar roots, distorted incisors, alveolar bone loss, and compressed temporomandibular joints, as well as abnormal skull shapes. The phenotype was not apparent during embryonic stages, suggesting that postnatal mechanical stress is important for the development of these structures. Three-dimensional photographic analysis of the craniofacial features of 19 human PKD2 patients showed some specific characteristics, including increased facial asymmetry, vertical lengthening of the face and nose, and mild mid-facial hypoplasia. The results suggested that the PKD2 gene plays a role in craniofacial growth as a mechanoreceptor, and that patients with PKD2 mutations may have subtle craniofacial features. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>PKD2 is an autosomal dominant form of PKD (ADPKD).</p><p>Losekoot et al. (2012) reported an unusual case in which a male infant presented with neonatal onset of severe polycystic kidney disease. Molecular analysis showed that he was homozygous for a PKD2 missense variant (L656W) resulting from maternal uniparental disomy. He presented at birth with a distended abdomen, and renal biopsy showed polycystic kidney disease. Renal function was abnormal in the first week of life, but improved. He did not have proteinuria or hematuria at age 13 years and was treated for hypertension. Serial ultrasounds showed that he continued to develop renal cysts, as well as cysts in the prostate and epididymis. At age 18 years, he had no symptoms except for occasional flank pain. Liver imaging and function were normal. Each parent was unaffected and there was no family history of renal disease, even though the mother carried the variant. </p>
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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>Kimberling et al. (1988) described a 5-generation kindred, descendants of Sicilian immigrants to the United States, in which autosomal dominant polycystic kidney disease occurred without linkage to the alpha-hemoglobin complex on chromosome 16 (see PKD1, 173900). The frequency of recombination exceeded 24%. Romeo et al. (1988) described another Italian family with autosomal dominant polycystic kidney disease unlinked to the alpha-hemoglobin complex. On the basis of linkage studies, Pieke et al. (1989) concluded that all except 2 of 69 families had a posterior likelihood greater than 90% for linkage with 16p markers. Elles et al. (1990) reported 2 families suggesting a second locus for PKD. </p><p>In the Sicilian family with PKD found to be unlinked to chromosome 16 by Kimberling et al. (1988), Kumar et al. (1990) performed linkage studies and excluded the locus from about 61% of chromosome 1, including segments of the long and short arms. </p><p>On the basis of linkage findings in a large Danish kindred with the 'unlinked' form of APKD, Norby and Schwartz (1990) suggested that the locus might be on chromosome 2. With the marker D2S44 on 2q, a maximum lod score of 2.12 was obtained at theta = 0.10. Peters et al. (1993) later showed that the disorder in this Danish kindred was linked to 4q. </p><p>In Iceland, Fossdal et al. (1993) found that 3 of 7 families were 'unlinked' to 16p13.3 and that in one of the 'unlinked' families, the disease locus was excluded from a part of the long arm of chromosome 2. Other evidence suggested conclusively that the gene for the 'unlinked' form of the disease is located on chromosome 4. Using highly polymorphic microsatellite DNA markers, Peters et al. (1993) found linkage with markers D4S231 and D4S423, giving a multipoint lod score of 22.42. The 2 markers are located on 4q. It was suggested that the gene in this case is located in the region 4q21-q23. Peters et al. (1993) stated that roughly 86% of affected European families have their renal disorder on the basis of a mutation on 16p. </p><p>In a study of 24 families with adult-onset polycystic kidney disease, Kimberling et al. (1993) independently mapped the second autosomal dominant polycystic kidney disease locus to 4q in a 9-cM segment flanked by D4S231 and D4S414. The kindred was a large one previously described by Kumar et al. (1990, 1991). The original ancestors immigrated to America from Sicily and members of the kindred had been cared for in Colorado for 20 years. Lod scores with the 2 flanking markers were 5.98 and 10.12, respectively, for a recombination fraction of 0.05. </p><p>In 8 Spanish families with APKD unlinked to 16p13.3, San Millan et al. (1995) determined that the gene was closely linked to the marker D4S423; maximum lod score = 9.03 at theta = 0.00. Multipoint linkage analysis, as well as a study of recombinant haplotypes, placed the PKD2 locus between D4S1542 and D4S1563, which defines a genetic interval of approximately 1 cM. </p><p>Also in Spain, Coto et al. (1995) arrived at similar conclusions. They studied 17 large families with adult dominant polycystic kidney disease using ultrasonography and DNA microsatellite markers in 17 large families. Five of the 17 families showed negative linkage for 16p13.3 markers; in these families, significant linkage to 4q was observed. No evidence of another locus was found. </p>
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</span>
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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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<span class="mim-text-font">
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<p>Mochizuki et al. (1996) reported the isolation and characterization of a candidate gene for PKD2 on chromosome 4. They analyzed the PKD2 gene in affected individuals in 3 families with PKD2. Three nonsense mutations in the PKD2 gene were identified in affected individuals; see 173910.0001, 173910.0002, and 173910.0003. These mutations were not present in controls. </p><p>Viribay et al. (1997) used heteroduplex and SSCP analyses in a systematic mutation screening of all 15 exons of the PKD2 gene in chromosome 4-linked ADPKD families. They identified and characterized 7 novel mutations, with a detection rate of approximately 90% in the populations studied. All of the mutations resulted in the premature stop of translation (see, e.g., 173910.0005). All the mutations were unique and were distributed throughout the gene without evidence of clustering. Comparison of specific mutations with a clinical profile in these families showed no clear correlation. </p><p>Veldhuisen et al. (1997) systematically screened the PKD2 gene for mutations by SSCP analysis in 35 families with ADPKD and identified 20 mutations. </p><p>Pei et al. (1998) screened for PKD2 mutations in 11 Canadian families with ADPKD. In 4 families, linkage to PKD2 had been documented; in the remaining 7 smaller families, one or more affected members had late-onset end-stage renal disease at age 70 or older, a feature suggesting PKD2. Pei et al. (1998) found mutations in 8 of the 11 families, with no difference in the detection rate between the PKD2-linked families and the families with late-onset ESRD. In 3 unrelated families, insertion or deletion of an adenosine in a polyadenosine tract, (A)8 at nucleotides 2152-2159, was found in exon 11, suggesting that this mononucleotide repeat tract is prone to mutations from 'slipped strand mispairing.' All the mutations, scattered between exons 1 and 11, were predicted to result in a truncated polycystin-2 that lacks both the calcium-binding EF-hand domain and the 2 cytoplasmic domains required for the interaction of polycystin-2 with polycystin-1 and with itself. Furthermore, no correlation was found between the location of the mutations in the PKD2 coding sequence and disease severity. </p><p>In both kidneys of a patient with PKD2, Koptides et al. (1999) identified, for the first time, multiple novel somatic mutations within the PKD2 gene of epithelial cells. The family involved in this case had previously been shown to possess a 1-bp insertion (173910.0004) as the germline mutation. In 7 (33%) of 21 cysts examined, the authors identified a different 1-bp insertion (173910.0007) within the inherited wildtype allele. In 2 other cysts, a nonsense mutation and a splice site deletion had occurred in a PKD2 allele that could not be identified as the inherited wildtype or mutant. Koptides et al. (1999) suggested that the autosomal dominant form of PKD2 occurs by a cellular recessive mechanism, supporting a 2-hit model for cyst formation. </p><p>Koptides et al. (2000) provided the first direct genetic evidence that polycystins 1 and 2 interact, perhaps as part of a larger complex. In cystic DNA from a kidney of a patient with autosomal dominant PKD1, the authors showed somatic mutations not only in the PKD1 gene of certain cysts, but also in the PKD2 gene of others, generating a transheterozygous state with mutations in both genes. The mutation in PKD1 was of germinal nature and the mutation in PKD2 was of somatic nature. The authors stated that to their knowledge there was no precedent to the transheterozygous model as a mechanism for human disease development. </p><p>Watnick et al. (2000) found somatic mutations of PKD2 in 71% of ADPKD2 cysts analyzed. They found clonal somatic mutations of PKD1 in a subset of cysts that lacked PKD2 mutations. In 10 cysts, they demonstrated that the wildtype PKD2 allele had acquired the mutation. They found 3 PKD2 cysts with somatic PKD1 mutations in each cyst; comprehensive screening of the entire PKD2 coding sequence was negative. They referred to this as a pathogenic effect of transheterozygous mutations. </p><p>Torra et al. (1999) sought to demonstrate that somatic mutations are present in renal cysts from a PKD2 kidney. They studied 30 renal cysts from a patient with PKD2 in whom the germline mutation was shown to be a deletion that encompassed most of the gene. Loss of heterozygosity (LOH) studies showed loss of a wildtype allele in 10% of cysts. Screening of 6 exons of the gene by SSCP detected 8 different somatic mutations, all of which were expected to produce truncated proteins. Overall, more than 37% of the cysts studied represented somatic mutations. No LOH for the PKD1 gene or locus D3S1478 on chromosome 3 was observed in those cysts, which demonstrated that somatic alterations were specific. </p><p>Pei et al. (2001) reported studies of an extensively affected Newfoundland family in which it appeared that there was bilineal disease from independently segregating PKD1 and PKD2 mutations. A PKD2 mutation (2152delA; L736X) was found in 12 affected pedigree members. In addition, when the disease status of these individuals was coded as unknown in linkage analysis, they found, with markers at the PKD1 locus, significant lod scores, i.e., greater than 3.0. The findings strongly supported the presence of a PKD1 mutation in 15 other affected pedigree members, who lacked the PKD2 mutation. Two additional affected individuals had transheterozygous mutations involving both genes, and they had renal disease that was more severe than that in affected individuals who had either mutation alone. This was said to be the first demonstration of bilineal disease in ADPKD. In humans, transheterozygous mutations involving both PKD1 and PKD2 are not necessarily embryonically lethal. The authors concluded that the presence of bilineal disease as a confounder needs to be considered in the search for the PKD3 locus. </p><p>In affected members of 2 unrelated families with polycystic kidney disease, Bataille et al. (2011) identified 2 different heterozygous mutations in the PKD2 gene (173910.0010 and 173910.0011). In addition to kidney disease, the proband from each of the families also showed laterality defects, including situs inversus and dextrocardia, that were not seen in other affected family members. A third proband with PKD2 and a large 80-kb deletion involving PKD2 and ABCG2 (603756) also had laterality defects. The findings suggested that laterality defects may occur in some patients with PKD2 mutations, as has been demonstrated in animal models (see, e.g., Pennekamp et al., 2002). </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</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>Wu et al. (1998) introduced a mutant exon 1 in tandem with the wildtype exon 1 at the mouse Pkd2 locus. This was an unstable allele that underwent somatic inactivation by intragenic homologous recombination to produce a true null Pkd2 allele. Mice heterozygous and homozygous for this mutation develop polycystic kidney and liver lesions that are indistinguishable from the human phenotype. In all cases, renal cysts arise from renal tubular cells that lose the capacity to produce Pkd2 protein. Wu et al. (1998) concluded that somatic loss of Pkd2 expression is both necessary and sufficient for renal cyst formation in ADPKD, suggesting that PKD2 occurs by a cellular recessive mechanism. </p><p>Wu et al. (2000) induced 2 mutations in the mouse homolog Pkd2: an unstable allele that can undergo homologous recombination-based somatic rearrangement to form a null allele; and a true null allele. They examined these mutations to understand the function of polycystin-2 and to provide evidence that kidney and liver cyst formation associated with Pkd2 deficiency occurs by a 2-hit mechanism. They found that Pkd2 -/- mice die in utero between embryonic day (E) 13.5 and parturition. They have structural defects in cardiac septation and cyst formation in maturing nephrons and pancreatic ducts. Pancreatic ductal cysts also occur in adult Pkd2 mice heterozygous for the unstable allele, suggesting that this clinical manifestation of ADPKD also occurs by a 2-hit mechanism. As in human ADPKD, formation of kidney cysts in adult mice heterozygous for the unstable allele is associated with renal failure and early death (median survival, 65 weeks vs 94 weeks for controls). Adult mice heterozygous for the null mutation have intermediate survival despite absence of cystic disease or renal failure, providing the first indication of a deleterious effect of haploinsufficiency at Pkd2 on long-term survival. </p><p>For further information on animal models of PKD2, see 173910.</p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Bachner, L., Vinet, M. C., Lacave, R., Babron, M. C., Rondeau, E., Sraer, J. D., Chevet, D., Kaplan, J.-C.
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<strong>Linkage study of a large family with autosomal dominant polycystic kidney disease with reduced expression: absence of linkage to the PKD1 locus.</strong>
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Hum. Genet. 85: 221-227, 1990.
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[PubMed: 2370053]
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[Full Text: https://doi.org/10.1007/BF00193200]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bataille, S., Demoulin, N., Devuyst, O., Audrezet, M.-P., Dahan, K., Godin, M., Fontes, M., Pirson, Y., Burtey, S.
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<strong>Association of PKD2 (polycystin 2) mutations with left-right laterality defects.</strong>
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Am. J. Kidney Dis. 58: 456-460, 2011.
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[PubMed: 21719175]
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[Full Text: https://doi.org/10.1053/j.ajkd.2011.05.015]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bear, J. C., Parfrey, P. S., Morgan, J. M., Martin, C. J., Cramer, B. C.
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<strong>Autosomal dominant polycystic kidney disease: new information for genetic counselling.</strong>
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Am. J. Med. Genet. 43: 548-553, 1992.
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[PubMed: 1605247]
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[Full Text: https://doi.org/10.1002/ajmg.1320430309]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bergmann, C., Bruchle, N. O., Frank, V., Rehder, H., Zerres, K.
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<strong>Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation. (Letter)</strong>
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New Eng. J. Med. 359: 318-319, 2008.
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[PubMed: 18635443]
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[Full Text: https://doi.org/10.1056/NEJMc0801868]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Coto, E., Sanz de Castro, S., Aguado, S., Alvarez, J., Arias, M., Menendez, M. J., Lopez-Larrea, C.
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<strong>DNA microsatellite analysis of families with autosomal dominant polycystic kidney disease types 1 and 2: evaluation of clinical heterogeneity between both forms of the disease.</strong>
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J. Med. Genet. 32: 442-445, 1995.
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[PubMed: 7666395]
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[Full Text: https://doi.org/10.1136/jmg.32.6.442]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Deltas, C. C.
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<strong>Mutations of the human polycystic kidney disease 2 (PKD2) gene.</strong>
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Hum. Mutat. 18: 13-24, 2001.
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[PubMed: 11438989]
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[Full Text: https://doi.org/10.1002/humu.1145]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Elles, R. G., Read, A. P., Hodgkinson, K. A., Watters, A., Harris, R.
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<strong>Recombination or heterogeneity: is there a second locus for adult polycystic kidney disease?</strong>
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J. Med. Genet. 27: 413-417, 1990.
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[PubMed: 1975629]
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[Full Text: https://doi.org/10.1136/jmg.27.7.413]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Fossdal, R., Bothvarsson, M., Asmundsson, P., Ragnarsson, J., Peters, D., Breuning, M. H., Jensson, O.
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<strong>Icelandic families with autosomal dominant polycystic kidney disease: families unlinked to chromosome 16p13.3 revealed by linkage analysis.</strong>
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Hum. Genet. 91: 609-613, 1993.
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[PubMed: 8340115]
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[Full Text: https://doi.org/10.1007/BF00205089]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hateboer, N., v Dijk, M. A., Bogdanova, N., Coto, E., Saggar-Malik, A. K., San Millan, J. L., Torra, R., Breuning, M., Ravine, D.
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<strong>Comparison of phenotypes of polycystic kidney disease types 1 and 2.</strong>
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Lancet 353: 103-107, 1999.
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[PubMed: 10023895]
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[Full Text: https://doi.org/10.1016/s0140-6736(98)03495-3]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Jeffery, S., Saggar-Malik, A. K., Morgan, S., MacGregor, G. A.
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<strong>A family with autosomal dominant polycystic kidney disease not linked to chromosome 16p13.3.</strong>
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