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Entry
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- #620056 - POLYCYSTIC KIDNEY DISEASE 7; PKD7
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- OMIM
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<span class="h4">#620056</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/620056"><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="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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</div>
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=POLYCYSTIC KIDNEY DISEASE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=823&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1246/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=620056[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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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0060952" 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/620056" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0060952" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 730<br />
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<strong>DO:</strong> 0060952<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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620056
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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POLYCYSTIC KIDNEY DISEASE 7; PKD7
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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="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
|
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Gene/Locus <br /> MIM number
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</th>
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/13/101?start=-3&limit=10&highlight=101">
|
|
13q13.3
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</a>
|
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</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
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Polycystic kidney disease 7
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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/620056"> 620056 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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ALG5
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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/604565"> 604565 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/620056" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS173900" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/620056" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/620056" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> CARDIOVASCULAR </strong>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<em> Vascular </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- 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 />
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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">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Liver 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 />
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|
|
</span>
|
|
</div>
|
|
</div>
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Diverticulitis (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/307496006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">307496006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18126004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18126004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0012813&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0012813</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
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</div>
|
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|
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
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|
|
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|
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|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Multiple small kidney cysts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775609&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775609</a>]</span><br /> -
|
|
Small atrophic kidneys <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775610&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775610</a>]</span><br /> -
|
|
Interstitial fibrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/125565008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">125565008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3887486&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887486</a>]</span><br /> -
|
|
Renal dysfunction <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/723188008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">723188008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236423003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236423003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3279454&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279454</a>, <a href="https://bioportal.bioontology.org/search?q=C1565489&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1565489</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span><br /> -
|
|
Renal failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42399005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42399005</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=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 /> -
|
|
Chronic kidney disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/709044004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">709044004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <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" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/585" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">585</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/585.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">585.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1561643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1561643</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012622</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012622</a>]</span><br /> -
|
|
End-stage kidney 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>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <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>]</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>]</span><br /> -
|
|
Decreased glomerular filtration rate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/863929001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">863929001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0853068&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853068</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012213</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012213</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">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Adult onset <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853562&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853562</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003581</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003581</a>]</span><br /> -
|
|
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 />
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</span>
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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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</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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- Caused by mutation in the ALG5 dolichyl-phosphate beta-glucosyltransferase gene (ALG5, <a href="/entry/604565#0001">604565.0001</a>)<br />
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</span>
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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 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>
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Polycystic kidney disease
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- <a href="/phenotypicSeries/PS173900">PS173900</a>
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- 8 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus<br />MIM number</strong>
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/3/713?start=-3&limit=10&highlight=713"> 3q22.3 </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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<a href="/entry/617610"> Polycystic kidney disease 5 </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 recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/617610"> 617610 </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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<a href="/entry/617570"> DZIP1L </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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<a href="/entry/617570"> 617570 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/3/935?start=-3&limit=10&highlight=935"> 3q27.3 </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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<a href="/entry/618061"> Polycystic kidney disease 6 with or without polycystic liver disease </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/618061"> 618061 </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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<a href="/entry/611341"> DNAJB11 </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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<a href="/entry/611341"> 611341 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/4/398?start=-3&limit=10&highlight=398"> 4q22.1 </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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<a href="/entry/613095"> Polycystic kidney disease 2 </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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|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<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">
|
|
<a href="/entry/173910"> PKD2 </a>
|
|
</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/173910"> 173910 </a>
|
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/6/579?start=-3&limit=10&highlight=579"> 6p12.3-p12.2 </a>
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|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/263200"> Polycystic kidney disease 4, with or without hepatic disease </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/263200"> 263200 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606702"> PKHD1 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606702"> 606702 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<a href="/geneMap/11/484?start=-3&limit=10&highlight=484"> 11q12.3 </a>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600666"> Polycystic kidney disease 3 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600666"> 600666 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/104160"> GANAB </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/104160"> 104160 </a>
|
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</span>
|
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</td>
|
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
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|
<a href="/geneMap/13/101?start=-3&limit=10&highlight=101"> 13q13.3 </a>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620056"> Polycystic kidney disease 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
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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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|
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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/620056"> 620056 </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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<a href="/entry/604565"> ALG5 </a>
|
|
</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/604565"> 604565 </a>
|
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</span>
|
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</td>
|
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
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<a href="/geneMap/16/94?start=-3&limit=10&highlight=94"> 16p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/173900"> Polycystic kidney disease 1 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/173900"> 173900 </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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<a href="/entry/601313"> PKD1 </a>
|
|
</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/601313"> 601313 </a>
|
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/17/351?start=-3&limit=10&highlight=351"> 17q11.2 </a>
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|
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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/620903"> Polycystic kidney disease 8 </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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|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/620903"> 620903 </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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<a href="/entry/609799"> NEK8 </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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<a href="/entry/609799"> 609799 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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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 of evidence that polycystic kidney disease-7 (PKD7) is caused by heterozygous mutation in the ALG5 gene (<a href="/entry/604565">604565</a>) on chromosome 13q13.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Polycystic kidney disease-7 (PKD7) is an autosomal dominant nephropathy characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age. Many patients also demonstrate liver cysts and/or colonic diverticulosis (summary by <a href="#2" class="mim-tip-reference" title="Lemoine, H., Raud, L., Foulquier, F., Sayer, J. A., Lambert, B., Olinger, E., Lefevre, S., Knebelmann, B., Harris, P. C., Trouve, P., Despres, A., Duneau, G., and 14 others. <strong>Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.</strong> Am. J. Hum. Genet. 109: 1484-1499, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35896117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35896117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35896117[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2022.06.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35896117">Lemoine et al., 2022</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35896117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (<a href="/entry/173900">173900</a>).</p>
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</span>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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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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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<p><a href="#2" class="mim-tip-reference" title="Lemoine, H., Raud, L., Foulquier, F., Sayer, J. A., Lambert, B., Olinger, E., Lefevre, S., Knebelmann, B., Harris, P. C., Trouve, P., Despres, A., Duneau, G., and 14 others. <strong>Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.</strong> Am. J. Hum. Genet. 109: 1484-1499, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35896117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35896117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35896117[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2022.06.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35896117">Lemoine et al. (2022)</a> reported 19 patients from 5 unrelated families with adult-onset polycystic kidney disease (PCKD). Most of the patients were diagnosed after 30 years of age, although 1 was diagnosed at age 20. Some individuals, especially older ones, had chronic kidney disease or end-stage kidney disease associated with atrophic kidneys with multiple small kidney cysts. Renal histology from 1 patient who underwent nephrectomy showed multiple kidney cysts and extensive interstitial fibrosis. Decreased glomerular filtration rate (GFR) was also observed in the older patients. Other individuals, especially the younger ones, were identified incidentally or through family studies. These patients had normal-sized kidneys with few small kidney cysts. The authors noted that all individuals below 50 years of age had normal kidney function, all patients older than 60 years of age had chronic kidney disease, and 8 patients reached end-stage kidney disease between 62 and 91 years of age. About half of patients had high blood pressure, 7 had diverticulosis, and 6 had a few liver cysts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35896117" 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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<div class="mim-changed mim-change"><p><a href="#1" class="mim-tip-reference" title="Elhassan, E. A. E., Kmochova, T., Benson, K. A., Fennelly, N. K., Baresova, V., Kidd, K., Doyle, B., Dorman, A., Morrin, M. M., Kyne, N. C., Vyletal, P., Hartmannova, H., and 23 others. <strong>A novel monoallelic ALG5 variant causing late-onset ADPKD and tubulointerstitial fibrosis.</strong> Kidney Int. Rep. 9: 2209-2226, 2024.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/39081747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">39081747</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=39081747[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ekir.2024.04.031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="39081747">Elhassan et al. (2024)</a> reported 18 clinically affected patients out of 23 genetically-affected individuals from 2 distantly related Irish families (F350 and F200) with an adult-onset polycystic kidney disease-like phenotype and interstitial fibrosis. Affected persons developed slowly progressive chronic kidney disease caused by atypical cystic kidneys. Five of these patients reached end-stage kidney disease at a mean age of 73 years (range, 63-87 years). Eight patients had kidney and liver cysts (mean age, 72.7 years), 7 had only kidney cysts (mean age, 55.1 years), and 7 had no liver or kidney cysts (mean age, 50.2 years). Among the patients with advanced kidney disease, the displacement of normal kidney by cysts was less than expected, given the degree of kidney failure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=39081747" 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></div>
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<p>The transmission pattern of PKD7 in the families reported by <a href="#2" class="mim-tip-reference" title="Lemoine, H., Raud, L., Foulquier, F., Sayer, J. A., Lambert, B., Olinger, E., Lefevre, S., Knebelmann, B., Harris, P. C., Trouve, P., Despres, A., Duneau, G., and 14 others. <strong>Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.</strong> Am. J. Hum. Genet. 109: 1484-1499, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35896117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35896117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35896117[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2022.06.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35896117">Lemoine et al. (2022)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35896117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 19 patients from 5 unrelated families with PKD7, <a href="#2" class="mim-tip-reference" title="Lemoine, H., Raud, L., Foulquier, F., Sayer, J. A., Lambert, B., Olinger, E., Lefevre, S., Knebelmann, B., Harris, P. C., Trouve, P., Despres, A., Duneau, G., and 14 others. <strong>Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.</strong> Am. J. Hum. Genet. 109: 1484-1499, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35896117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35896117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35896117[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2022.06.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35896117">Lemoine et al. (2022)</a> identified heterozygous mutations in the ALG5 gene (see, e.g., <a href="/entry/604565#0001">604565.0001</a>-<a href="/entry/604565#0004">604565.0004</a>). There was 1 frameshift, 1 nonsense, 2 missense, and 1 splice site mutation. The mutation in the first family was found by whole-exome sequencing and confirmed by Sanger sequencing. The mutations in families 2 and 3 were identified by targeted massively parallel sequencing of 1,213 individuals with kidney disease. The mutations in family 4 and in a singleton (family 5) were found by whole-genome sequencing of 3,520 probands with various renal diseases. The mutations segregated with the disorder in families 1, 2, 3, and 4. In vitro studies of CRISPR/Cas9-mediated biallelic and monoallelic frameshift mutations in the ALG5 gene expressed in renal cortical tubular epithelial (RCTE) cells showed abnormal accumulation of Man9GlcNAc2 lipid-linked oligosaccharide (LLO) precursors and their transfer onto proteins in human kidney cells. Further studies revealed that the lack of N-glycosylation resulted in abnormal maturation of the PKD1 (<a href="/entry/601313">601313</a>) protein that could be rescued by wildtype ALG5, but not by either of the missense variants. Lack of ALG5 also caused intracellular mislocalization of both PKD1 and PKD2 (<a href="/entry/173910">173910</a>), and evidence suggested that there was activation of the unfolded protein response. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35896117" 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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<div class="mim-changed mim-change"><p>In 2 distantly related Irish families (F350 and F200) with a late-onset autosomal dominant polycystic kidney disease-like phenotype and tubulointerstitial fibrosis, <a href="#1" class="mim-tip-reference" title="Elhassan, E. A. E., Kmochova, T., Benson, K. A., Fennelly, N. K., Baresova, V., Kidd, K., Doyle, B., Dorman, A., Morrin, M. M., Kyne, N. C., Vyletal, P., Hartmannova, H., and 23 others. <strong>A novel monoallelic ALG5 variant causing late-onset ADPKD and tubulointerstitial fibrosis.</strong> Kidney Int. Rep. 9: 2209-2226, 2024.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/39081747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">39081747</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=39081747[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ekir.2024.04.031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="39081747">Elhassan et al. (2024)</a> identified 23 individuals with a heterozygous R79W mutation in the ALG5 gene (<a href="/entry/604565#0005">604565.0005</a>). Among these 23 individuals, 18 were clinically affected with a slowly progressive chronic kidney disease. The authors identified abnormal ALG5 distribution in the Golgi apparatus of renal tubular cells. Abnormal accumulation of uromodulin was noted in the endoplasmic reticulum, and decreased plasma and urinary uromodulin levels were also seen in affected persons, suggesting abnormal maturation and trafficking of uromodulin, resulting in structural and functional changes in the kidney. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=39081747" 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></div>
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Elhassan, E. A. E., Kmochova, T., Benson, K. A., Fennelly, N. K., Baresova, V., Kidd, K., Doyle, B., Dorman, A., Morrin, M. M., Kyne, N. C., Vyletal, P., Hartmannova, H., and 23 others.
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<strong>A novel monoallelic ALG5 variant causing late-onset ADPKD and tubulointerstitial fibrosis.</strong>
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Kidney Int. Rep. 9: 2209-2226, 2024.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/39081747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">39081747</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=39081747[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=39081747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ekir.2024.04.031" target="_blank">Full Text</a>]
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Lemoine, H., Raud, L., Foulquier, F., Sayer, J. A., Lambert, B., Olinger, E., Lefevre, S., Knebelmann, B., Harris, P. C., Trouve, P., Despres, A., Duneau, G., and 14 others.
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<strong>Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.</strong>
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Am. J. Hum. Genet. 109: 1484-1499, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35896117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35896117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35896117[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35896117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2022.06.013" target="_blank">Full Text</a>]
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Sonja A. Rasmussen - updated : 02/24/2025
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Cassandra L. Kniffin : 09/28/2022
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alopez : 10/04/2022<br>ckniffin : 09/28/2022
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Polycystic kidney disease 7
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620056
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Autosomal dominant
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<span class="mim-font">
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3
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ALG5
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604565
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that polycystic kidney disease-7 (PKD7) is caused by heterozygous mutation in the ALG5 gene (604565) on chromosome 13q13.</p>
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<strong>Description</strong>
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<p>Polycystic kidney disease-7 (PKD7) is an autosomal dominant nephropathy characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age. Many patients also demonstrate liver cysts and/or colonic diverticulosis (summary by Lemoine et al., 2022). </p><p>For a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (173900).</p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<p>Lemoine et al. (2022) reported 19 patients from 5 unrelated families with adult-onset polycystic kidney disease (PCKD). Most of the patients were diagnosed after 30 years of age, although 1 was diagnosed at age 20. Some individuals, especially older ones, had chronic kidney disease or end-stage kidney disease associated with atrophic kidneys with multiple small kidney cysts. Renal histology from 1 patient who underwent nephrectomy showed multiple kidney cysts and extensive interstitial fibrosis. Decreased glomerular filtration rate (GFR) was also observed in the older patients. Other individuals, especially the younger ones, were identified incidentally or through family studies. These patients had normal-sized kidneys with few small kidney cysts. The authors noted that all individuals below 50 years of age had normal kidney function, all patients older than 60 years of age had chronic kidney disease, and 8 patients reached end-stage kidney disease between 62 and 91 years of age. About half of patients had high blood pressure, 7 had diverticulosis, and 6 had a few liver cysts. </p><p>Elhassan et al. (2024) reported 18 clinically affected patients out of 23 genetically-affected individuals from 2 distantly related Irish families (F350 and F200) with an adult-onset polycystic kidney disease-like phenotype and interstitial fibrosis. Affected persons developed slowly progressive chronic kidney disease caused by atypical cystic kidneys. Five of these patients reached end-stage kidney disease at a mean age of 73 years (range, 63-87 years). Eight patients had kidney and liver cysts (mean age, 72.7 years), 7 had only kidney cysts (mean age, 55.1 years), and 7 had no liver or kidney cysts (mean age, 50.2 years). Among the patients with advanced kidney disease, the displacement of normal kidney by cysts was less than expected, given the degree of kidney failure. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>The transmission pattern of PKD7 in the families reported by Lemoine et al. (2022) was consistent with autosomal dominant inheritance. </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 class="mim-text-font">
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<p>In 19 patients from 5 unrelated families with PKD7, Lemoine et al. (2022) identified heterozygous mutations in the ALG5 gene (see, e.g., 604565.0001-604565.0004). There was 1 frameshift, 1 nonsense, 2 missense, and 1 splice site mutation. The mutation in the first family was found by whole-exome sequencing and confirmed by Sanger sequencing. The mutations in families 2 and 3 were identified by targeted massively parallel sequencing of 1,213 individuals with kidney disease. The mutations in family 4 and in a singleton (family 5) were found by whole-genome sequencing of 3,520 probands with various renal diseases. The mutations segregated with the disorder in families 1, 2, 3, and 4. In vitro studies of CRISPR/Cas9-mediated biallelic and monoallelic frameshift mutations in the ALG5 gene expressed in renal cortical tubular epithelial (RCTE) cells showed abnormal accumulation of Man9GlcNAc2 lipid-linked oligosaccharide (LLO) precursors and their transfer onto proteins in human kidney cells. Further studies revealed that the lack of N-glycosylation resulted in abnormal maturation of the PKD1 (601313) protein that could be rescued by wildtype ALG5, but not by either of the missense variants. Lack of ALG5 also caused intracellular mislocalization of both PKD1 and PKD2 (173910), and evidence suggested that there was activation of the unfolded protein response. </p><p>In 2 distantly related Irish families (F350 and F200) with a late-onset autosomal dominant polycystic kidney disease-like phenotype and tubulointerstitial fibrosis, Elhassan et al. (2024) identified 23 individuals with a heterozygous R79W mutation in the ALG5 gene (604565.0005). Among these 23 individuals, 18 were clinically affected with a slowly progressive chronic kidney disease. The authors identified abnormal ALG5 distribution in the Golgi apparatus of renal tubular cells. Abnormal accumulation of uromodulin was noted in the endoplasmic reticulum, and decreased plasma and urinary uromodulin levels were also seen in affected persons, suggesting abnormal maturation and trafficking of uromodulin, resulting in structural and functional changes in the kidney. </p>
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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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<ol>
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<li>
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<p class="mim-text-font">
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Elhassan, E. A. E., Kmochova, T., Benson, K. A., Fennelly, N. K., Baresova, V., Kidd, K., Doyle, B., Dorman, A., Morrin, M. M., Kyne, N. C., Vyletal, P., Hartmannova, H., and 23 others.
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<strong>A novel monoallelic ALG5 variant causing late-onset ADPKD and tubulointerstitial fibrosis.</strong>
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Kidney Int. Rep. 9: 2209-2226, 2024.
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[PubMed: 39081747]
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[Full Text: https://doi.org/10.1016/j.ekir.2024.04.031]
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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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Lemoine, H., Raud, L., Foulquier, F., Sayer, J. A., Lambert, B., Olinger, E., Lefevre, S., Knebelmann, B., Harris, P. C., Trouve, P., Despres, A., Duneau, G., and 14 others.
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<strong>Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.</strong>
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Am. J. Hum. Genet. 109: 1484-1499, 2022.
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[PubMed: 35896117]
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[Full Text: https://doi.org/10.1016/j.ajhg.2022.06.013]
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</p>
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 02/24/2025
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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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Cassandra L. Kniffin : 09/28/2022
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Edit History:
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<span class="mim-text-font">
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carol : 02/24/2025<br>alopez : 10/04/2022<br>ckniffin : 09/28/2022
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