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Entry
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- #613677 - HYPERALDOSTERONISM, FAMILIAL, TYPE III; HALD3
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- OMIM
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<span class="h4">#613677</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/613677"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS103900"> <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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<li role="presentation" style="margin-left: 1em">
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</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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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=(HYPERALDOSTERONISM, FAMILIAL, TYPE III) OR (KCNJ5)" class="mim-tip-hint" title="Clinical Trials" 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=19618&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.diseaseinfosearch.org/x/8573" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/familial-hyperaldosteronism" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613677[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=251274" 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>
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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:446" 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/613677" 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:446" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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</div>
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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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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 703234002<br />
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<strong>ORPHA:</strong> 251274<br />
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<strong>DO:</strong> 446<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
|
<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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613677
|
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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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HYPERALDOSTERONISM, FAMILIAL, TYPE III; HALD3
|
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</span>
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</h3>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
|
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
FH III
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<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>
|
|
<th>
|
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Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
|
</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>
|
|
Gene/Locus <br /> MIM number
|
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</th>
|
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</tr>
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</thead>
|
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<tbody>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/11/1085?start=-3&limit=10&highlight=1085">
|
|
11q24.3
|
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</a>
|
|
</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Hyperaldosteronism, familial, type III
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613677"> 613677 </a>
|
|
</span>
|
|
</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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KCNJ5
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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/600734"> 600734 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
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|
|
</tbody>
|
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</table>
|
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</div>
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</div>
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<div>
|
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|
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/613677" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
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|
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<div class="btn-group">
|
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|
|
<a href="/phenotypicSeries/PS103900" class="btn btn-info" role="button"> Phenotypic Series </a>
|
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|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
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</div>
|
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/613677" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/613677" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
|
</div>
|
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|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypertension, severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013784</a>]</span> <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">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Adrenal hyperplasia, bilateral <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2062372&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2062372</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237751000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237751000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/419920004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">419920004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E25.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E25.0</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008221" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008221</a>]</span><br /> -
|
|
Elevated aldosterone secretion <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013775&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013775</a>]</span><br /> -
|
|
Hyperplasia of zona fasciculata of adrenal gland <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013776&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013776</a>]</span><br /> -
|
|
Hyperplasia of zona glomerulosa of adrenal gland <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013777&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013777</a>]</span><br /> -
|
|
Atrophic zona glomerulosa of adrenal gland (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013778&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013778</a>]</span><br /> -
|
|
Histologically normal adrenal gland (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013779&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013779</a>]</span><br /> -
|
|
Polyuria (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56574000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56574000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28442001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28442001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/718402002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">718402002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R35.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R35.89</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/788.42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">788.42</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0032617&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0032617</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000103" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000103</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000103" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000103</a>]</span><br /> -
|
|
Hypotonic urine (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013781&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013781</a>]</span><br /> -
|
|
Hypercalciuria (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71938000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71938000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R82.994" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R82.994</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020438&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020438</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002150" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002150</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002150" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002150</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Muscle weakness, hypokalemia-related <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013774&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013774</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> METABOLIC FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Metabolic acidosis (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59455009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59455009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E87.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E87.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220981&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220981</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001942" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001942</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001942" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001942</a>]</span><br /> -
|
|
Polydipsia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17173007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17173007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/139104001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">139104001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R63.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R63.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085602&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085602</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001959" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001959</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001959" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001959</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Adrenal hyperplasia, bilateral <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2062372&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2062372</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237751000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237751000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/419920004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">419920004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E25.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E25.0</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008221" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008221</a>]</span><br /> -
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Elevated serum aldosterone <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700633&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700633</a>]</span><br /> -
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Elevated 18-hydroxycortisol <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013772</a>]</span><br /> -
|
|
Elevated 18-oxocortisol <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013773&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013773</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> LABORATORY ABNORMALITIES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Hypokalemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166690008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166690008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43339004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43339004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E87.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E87.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/276.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">276.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020621&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020621</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002900" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002900</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002900" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002900</a>]</span><br /> -
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Hypercalciuria (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71938000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71938000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R82.994" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R82.994</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020438&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020438</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002150" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002150</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002150" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002150</a>]</span><br /> -
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Decreased plasma renin activity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845206&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845206</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003351" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003351</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003351" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003351</a>]</span><br /> -
|
|
Paradoxical increase or no change in serum aldosterone and blood pressure after dexamethasone administration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013783&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013783</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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|
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- Onset of symptoms in first decade of life<br /> -
|
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Patients with medication-resistant hypertension require bilateral adrenalectomy<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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|
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<div>
|
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<span class="mim-font">
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|
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- Caused by mutation in the member-5 subfamily-J inwardly rectifying potassium channel gene (KCNJ5, <a href="/entry/600734#0002">600734.0002</a>)<br />
|
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|
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</span>
|
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</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
|
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small">
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Hyperaldosteronism
|
|
- <a href="/phenotypicSeries/PS103900">PS103900</a>
|
|
- 4 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
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|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/918?start=-3&limit=10&highlight=918"> 3q27.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605635"> Hyperaldosteronism, familial, type II </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605635"> 605635 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600570"> CLCN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600570"> 600570 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/599?start=-3&limit=10&highlight=599"> 8q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/103900"> Aldosteronism, glucocorticoid-remediable </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">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/103900"> 103900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610613"> CYP11B1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610613"> 610613 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/1085?start=-3&limit=10&highlight=1085"> 11q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613677"> Hyperaldosteronism, familial, type III </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613677"> 613677 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600734"> KCNJ5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600734"> 600734 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/51?start=-3&limit=10&highlight=51"> 16p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617027"> Hyperaldosteronism, familial, type IV </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617027"> 617027 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607904"> CACNA1H </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607904"> 607904 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
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|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
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</div>
|
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</div>
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
|
<a id="text" class="mim-anchor"></a>
|
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<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.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
|
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<div id="mimTextFold" class="collapse in ">
|
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<span class="mim-text-font">
|
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<p>A number sign (#) is used with this entry because of evidence that familial hyperaldosteronism type III (HALD3) is caused by heterozygous mutation in the KCNJ5 gene (<a href="/entry/600734">600734</a>) on chromosome 11q24.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of familial hyperaldosteronism, see HALD1 (<a href="/entry/103900">103900</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="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<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>Hyperaldosteronism type III (HALD3) is characterized by hypertension secondary to massive adrenal mineralocorticoid production. Like patients with glucocorticoid-remediable aldosteronism (GRA, or HALD1; <a href="/entry/103900">103900</a>), patients with HALD3 present with childhood hypertension, elevated aldosteronism levels, and high levels of the hybrid steroids 18-oxocortisol and 18-hydroxycortisol. However, hypertension and aldosteronism in HALD3 are not reversed by administration of exogenous glucocorticoids and patients require adrenalectomy to control hypertension (<a href="#4" class="mim-tip-reference" title="Geller, D. S., Zhang, J., Wisgerhof, M. V., Shackleton, C., Kashgarian, M., Lifton, R. P. <strong>A novel form of human Mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism.</strong> J. Clin. Endocr. Metab. 93: 3117-3123, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18505761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18505761</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18505761[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/10.1210/jc.2008-0594" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18505761">Geller et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18505761" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Geller, D. S., Zhang, J., Wisgerhof, M. V., Shackleton, C., Kashgarian, M., Lifton, R. P. <strong>A novel form of human Mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism.</strong> J. Clin. Endocr. Metab. 93: 3117-3123, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18505761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18505761</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18505761[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/10.1210/jc.2008-0594" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18505761">Geller et al. (2008)</a> reported a novel familial form of aldosteronism in a father and 2 daughters. All were diagnosed with severe secondary hypertension (HTN) refractory to medical treatment by age 7 years. <a href="#4" class="mim-tip-reference" title="Geller, D. S., Zhang, J., Wisgerhof, M. V., Shackleton, C., Kashgarian, M., Lifton, R. P. <strong>A novel form of human Mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism.</strong> J. Clin. Endocr. Metab. 93: 3117-3123, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18505761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18505761</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18505761[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/10.1210/jc.2008-0594" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18505761">Geller et al. (2008)</a> performed a variety of clinical, biochemical, and genetic studies to attempt to clarify the underlying molecular defect. Biochemical studies revealed hyporeninemia, hyperaldosteronism, and very high levels of 18-oxocortisol and 18-hydroxycortisol, steroids that reflect oxidation by both steroid 17-alpha hydroxylase and aldosterone synthase. These enzymes are normally compartmentalized in the adrenal fasciculata and glomerulosa, respectively. Administration of dexamethasone failed to suppress either aldosterone or cortisol secretion; these findings distinguished this clinical syndrome from glucocorticoid-remediable aldosteronism (GRA; <a href="/entry/103900">103900</a>), another autosomal dominant form of HTN, and suggested a global defect in the regulation of adrenal steroid production. Because of unrelenting HTN, all 3 subjects underwent bilateral adrenalectomy, which in each case corrected the HTN. Adrenal glands showed dramatic enlargement, with paired adrenal weights as high as 82 grams. Histology revealed massive hyperplasia and cellular hypertrophy of a single cortical compartment that had features of adrenal fasciculata or a transitional zone, with an atrophic glomerulosa. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18505761" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Mulatero, P., Tauber, P., Zennaro, M.-C., Monticone, S., Lang, K., Beuschlein, F., Fischer, E., Tizzani, D., Pallauf, A., Viola, A., Amar, L., Williams, T. A., and 10 others. <strong>KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism.</strong> Hypertension 59: 235-240, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22203740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22203740</a>] [<a href="https://doi.org/10.1161/HYPERTENSIONAHA.111.183996" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22203740">Mulatero et al. (2012)</a> described an Italian mother and daughter with primary hyperaldosteronism in whom the presence of the chimeric gene responsible for GRA had been excluded. The mother, who had a history of polyuria in the first decade of life, was initially reported to be hypertensive at age 18 years. Primary aldosteronism was diagnosed at 27 years of age, when she presented with hypertension, hypokalemia, decreased plasma renin activity, and elevated aldosterone levels that did not normalize after dexamethasone administration. On electrocardiogram, QTc was slightly prolonged at 456 ms, even after normalization of potassium levels. The daughter had polyuria and polydipsia at 2 years of age, and evaluation revealed hypertension, hypokalemia, and severe hyperaldosteronism with hypotonic urine and hypercalciuria. CT scans of the adrenal glands were normal in both patients, and symptoms in both were controlled with medication. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22203740" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Scholl, U. I., Nelson-Williams, C., Yue, P., Grekin, R., Wyatt, R. J., Dillon, M. J., Couch, R., Hammer, L. K., Harley, F. L., Farhi, A., Wang, W.-H., Lifton, R. P. <strong>Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.</strong> Proc. Nat. Acad. Sci. 109: 2533-2538, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22308486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22308486</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22308486[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.1121407109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22308486">Scholl et al. (2012)</a> studied 4 unrelated kindreds with very early-onset primary aldosteronism, with all but 1 of the 10 affected members diagnosed before 6 years of age. In 2 of the families, blood pressure was difficult to control, and aldosteronism progressed with age. The 38-year-old proband of the first family presented at 22 months of age with muscle weakness, severe hypokalemia, and hypertension that persisted despite treatment with spironolactone. She underwent removal of a hyperplastic left adrenal gland at 32 months of age, but her symptoms persisted, and the right adrenal gland was removed at 4.3 years of age; both adrenal glands were markedly enlarged and showed hyperplasia of the zona glomerulosa and fasciculata. The bilateral adrenalectomy normalized blood pressure and K+ levels. The proband had 2 affected daughters, both of whom were diagnosed before 2 years of age and had hypertension refractory to spironolactone treatment; both had normalization of blood pressure, potassium, and aldosterone levels after bilateral adrenalectomy. The affected individual in the second family presented at 4 years of age with hypertension, hypokalemia, metabolic alkalosis, and an elevated serum aldosterone level with suppressed plasma renin activity. Ultrasound of the abdomen was normal. She had difficult-to-control hypertension, and was lost to follow-up. In the third and fourth families, spironolactone normalized blood pressure, and there was no progression of disease with age. The proband of the third family was a 38-year-old woman, previously described by <a href="#5" class="mim-tip-reference" title="Greco, R. G., Carroll, J. E., Morris, D. J., Grekin, R. J., Melby, J. C. <strong>Familial hyperaldosteronism, not suppressed by dexamethasone.</strong> J. Clin. Endocr. Metab. 55: 1013-1016, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7119083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7119083</a>] [<a href="https://doi.org/10.1210/jcem-55-5-1013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7119083">Greco et al. (1982)</a>, who presented at 26 months of age with hypertension and hyperaldosteronism. Treatment with spironolactone normalized her blood pressure, and she did not have progression of hypertension or growth of the adrenal glands with age; CT scan at age 37 years revealed no adrenal abnormality. She had 2 affected children, both diagnosed before 2 years of age and successfully treated with spironolactone. Her affected father, who was reported by <a href="#1" class="mim-tip-reference" title="Bartter, F. C., Biglieri, E. G. <strong>Primary aldosteronism: clinical staff conference at the National Institutes of Health.</strong> Ann. Intern. Med. 48: 647-654, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13521591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13521591</a>] [<a href="https://doi.org/10.7326/0003-4819-48-3-647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13521591">Bartter and Biglieri (1958)</a>, had early hypertension and aldosteronism and underwent near-total bilateral adrenalectomy at 14 years of age, before the availability of mineralocorticoid receptor antagonists. The glands were described as histologically normal, and he was normotensive and normokalemic thereafter. The fourth family consisted of a father and son who both presented in the first few years of life with hypertension and elevated aldosterone. The father underwent bilateral adrenalectomy at 6 years of age; the son was successfully treated with spironolactone. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13521591+7119083+22308486" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Charmandari, E., Sertedaki, A., Kino, T., Merakou, C., Hoffman, D. A., Hatch, M. M., Hurt, D. E., Lin, L., Xekouki, P., Stratakis, C. A., Chrousos, G. P. <strong>A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension.</strong> J. Clin. Endocr. Metab. 97: E1532-E1539, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22628607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22628607</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22628607[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/10.1210/jc.2012-1334" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22628607">Charmandari et al. (2012)</a> reported a mother and daughter with severe primary aldosteronism and bilateral massive adrenal hyperplasia resulting in early-onset hypertension refractory to medical treatment. The mother, who was diagnosed at 7 years of age, underwent bilateral adrenalectomy at age 13 due to persistent hypertension, with complete normalization of blood pressure and serum potassium levels postoperatively. The daughter, who presented at 2 years of age with severe hypertension, hypokalemia, hyperaldosteronism, and suppressed plasma renin activity, had normal growth and development, with no hirsutism or virilization at puberty. Hypertension persisted at age 15 despite treatment with multiple medications, including spironolactone. MRI of the adrenal glands confirmed massive bilateral adrenal hyperplasia, and she underwent near-total bilateral adrenalectomy. Over subsequent years, further hyperplasia of the remaining right adrenal gland was documented, and she had recurrence of the symptoms and signs of primary hyperaldosteronism; removal of the remaining gland was planned. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22628607" 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>The transmission pattern of HALD3 in the family reported by <a href="#4" class="mim-tip-reference" title="Geller, D. S., Zhang, J., Wisgerhof, M. V., Shackleton, C., Kashgarian, M., Lifton, R. P. <strong>A novel form of human Mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism.</strong> J. Clin. Endocr. Metab. 93: 3117-3123, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18505761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18505761</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18505761[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/10.1210/jc.2008-0594" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18505761">Geller et al. (2008)</a> and <a href="#3" class="mim-tip-reference" title="Choi, M., Scholl, U. I., Yue, P., Bjorklund, P., Zhao, B., Nelson-Williams, C., Ji, W., Cho, Y., Patel, A., Men, C. J., Lolis, E., Wisgerhof, M. V., Geller, D. S., Mane, S., Hellman, P., Westin, G., Akerstrom, G., Wang, W., Carling, T., Lifton, R. P. <strong>K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.</strong> Science 331: 768-772, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21311022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21311022</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21311022[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/10.1126/science.1198785" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21311022">Choi et al. (2011)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21311022+18505761" 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>In the family with hyperaldosteronism reported by <a href="#4" class="mim-tip-reference" title="Geller, D. S., Zhang, J., Wisgerhof, M. V., Shackleton, C., Kashgarian, M., Lifton, R. P. <strong>A novel form of human Mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism.</strong> J. Clin. Endocr. Metab. 93: 3117-3123, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18505761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18505761</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18505761[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/10.1210/jc.2008-0594" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18505761">Geller et al. (2008)</a>, <a href="#3" class="mim-tip-reference" title="Choi, M., Scholl, U. I., Yue, P., Bjorklund, P., Zhao, B., Nelson-Williams, C., Ji, W., Cho, Y., Patel, A., Men, C. J., Lolis, E., Wisgerhof, M. V., Geller, D. S., Mane, S., Hellman, P., Westin, G., Akerstrom, G., Wang, W., Carling, T., Lifton, R. P. <strong>K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.</strong> Science 331: 768-772, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21311022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21311022</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21311022[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/10.1126/science.1198785" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21311022">Choi et al. (2011)</a> identified a missense mutation in the potassium channel gene KCNJ5 at codon 158 (T158A; <a href="/entry/600734#0002">600734.0002</a>). This mutation produced increased sodium conductance and caused severe hypertension. <a href="#3" class="mim-tip-reference" title="Choi, M., Scholl, U. I., Yue, P., Bjorklund, P., Zhao, B., Nelson-Williams, C., Ji, W., Cho, Y., Patel, A., Men, C. J., Lolis, E., Wisgerhof, M. V., Geller, D. S., Mane, S., Hellman, P., Westin, G., Akerstrom, G., Wang, W., Carling, T., Lifton, R. P. <strong>K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.</strong> Science 331: 768-772, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21311022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21311022</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21311022[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/10.1126/science.1198785" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21311022">Choi et al. (2011)</a> also identified 2 recurrent somatic mutations in and near the selectivity filter of KCNJ5, G151R (<a href="/entry/600734#0004">600734.0004</a>), and L168R, that were present in 8 of 22 human aldosterone-producing adrenal adenomas studied. These 2 mutations produced increased sodium conductance and cell depolarization, which in adrenal glomerulosa cells produces calcium entry, the signal for aldosterone production and cell proliferation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21311022+18505761" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Mulatero, P., Tauber, P., Zennaro, M.-C., Monticone, S., Lang, K., Beuschlein, F., Fischer, E., Tizzani, D., Pallauf, A., Viola, A., Amar, L., Williams, T. A., and 10 others. <strong>KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism.</strong> Hypertension 59: 235-240, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22203740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22203740</a>] [<a href="https://doi.org/10.1161/HYPERTENSIONAHA.111.183996" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22203740">Mulatero et al. (2012)</a> analyzed the candidate gene KCNJ5 in 21 European families with primary hyperaldosteronism in which the presence of the chimeric gene responsible for type I familial hyperaldosteronism had been excluded. In an affected Italian mother and daughter, they identified heterozygosity for a missense mutation (G151E; <a href="/entry/600734#0005">600734.0005</a>) that was not found in 7 unaffected family members. In addition, they identified 3 somatic KCNJ5 mutations, T158A, G151R, and L168R, in aldosterone-producing adenomas (APAs) from 3 unrelated affected individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22203740" 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>After exclusion of chimeric fusion of CYP11B1/CYP11B2 or mutation in the AT1R gene (<a href="/entry/106165">106165</a>) in a mother and daughter with severe aldosteronism requiring total adrenalectomy, <a href="#2" class="mim-tip-reference" title="Charmandari, E., Sertedaki, A., Kino, T., Merakou, C., Hoffman, D. A., Hatch, M. M., Hurt, D. E., Lin, L., Xekouki, P., Stratakis, C. A., Chrousos, G. P. <strong>A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension.</strong> J. Clin. Endocr. Metab. 97: E1532-E1539, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22628607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22628607</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22628607[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/10.1210/jc.2012-1334" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22628607">Charmandari et al. (2012)</a> sequenced the candidate genes KCNK3 (<a href="/entry/603220">603220</a>), KCNK5 (<a href="/entry/603493">603493</a>), KCNK9 (<a href="/entry/605874">605874</a>), and KCNJ5, and identified heterozygosity for a missense mutation in the KCNJ5 gene (I157S; <a href="/entry/600734#0006">600734.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22628607" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Murthy, M., Xu, S., Massimo, G., Wolley, M., Gordon, R. D., Stowasser, M., O'Shaughnessy, K. M. <strong>Role for germline mutations and a rare coding single nucleotide polymorphism within the KCNJ5 potassium channel in a large cohort of sporadic cases of primary aldosteronism.</strong> Hypertension 63: 783-789, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24420545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24420545</a>] [<a href="https://doi.org/10.1161/HYPERTENSIONAHA.113.02234" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24420545">Murthy et al. (2014)</a> analyzed the KCNJ5 gene in 251 patients with apparent sporadic florid primary aldosteronism, and identified 3 heterozygous missense mutations, G247R (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs200170681;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs200170681</a>; <a href="/entry/600734#0003">600734.0003</a>), E246K (<a href="/entry/600734#0007">600734.0007</a>), and R52H (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs144062083;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs144062083</a>). In addition, 12 (5%) of the 251 patients carried the rare SNP E282Q (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs7102584;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs7102584</a>), present at a population frequency of 2% in the 1000 Genomes cohort. Although remote from the KCNJ5 selectivity filter, 3 of the 4 variants (E246K, R52H, and E282Q) were shown to alter inward rectification, conduction of Na+ currents, and angiotensin II (<a href="/entry/106150">106150</a>)-induced aldosterone release in the H295R cell line, a well-established model for the human zona glomerulosa cell. Results of electrophysiologic analysis of the G247R channel, however, were indistinguishable from those of the wildtype channel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24420545" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Kokunai, Y., Nakata, T., Furuta, M., Sakata, S., Kimura, H., Aiba, T., Yoshinaga, M., Osaki, Y., Nakamori, M., Itoh, H., Sato, T., Kubota, T., Kadota, K., Shindo, K., Mochizuki, H., Shimizu, W., Horie, M., Okamura, Y., Ohno, K., Takahashi, M. P. <strong>A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1.</strong> Neurology 82: 1058-1064, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24574546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24574546</a>] [<a href="https://doi.org/10.1212/WNL.0000000000000239" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24574546">Kokunai et al. (2014)</a> identified the T158A mutation in the KCNJ5 gene in a patient with prolonged QU on ECG who developed a hypokalemic paralytic attack and primary aldosteronism 2 years later. The patient was 1 of 21 patients with a phenotype resembling Andersen-Tawil syndrome (LQT7; <a href="/entry/170390">170390</a>) who did not carry a mutation in the KCNJ2 gene (<a href="/entry/600681">600681</a>). The findings expanded the phenotype associated with this mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24574546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Reviews</em></strong></p><p>
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<a href="#7" class="mim-tip-reference" title="Mulatero, P., Monticone, S., Rainey, W. E., Veglio, F., Williams, T. A. <strong>Role of KCNJ5 in familial and sporadic primary aldosteronism.</strong> Nature Rev. Endocr. 9: 104-112, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23229280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23229280</a>] [<a href="https://doi.org/10.1038/nrendo.2012.230" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23229280">Mulatero et al. (2013)</a> reviewed the role of KCNJ5 in adrenal pathophysiology and provided an overview of the clinical and biochemical phenotypes resulting from KCNJ5 mutations in patients with sporadic and familial primary aldosteronism. The authors stated that the prevalence of FH III appeared to be 7% of patients with familial aldosteronism and 0.3% of all cases of primary hyperaldosteronism. In addition, they noted that the total prevalence of reported KCNJ5 mutations in aldosterone-producing adrenal adenomas (APAs) was 40%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23229280" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Exclusion Studies</em></strong></p><p>
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In a family with hyperaldosteronism, <a href="#4" class="mim-tip-reference" title="Geller, D. S., Zhang, J., Wisgerhof, M. V., Shackleton, C., Kashgarian, M., Lifton, R. P. <strong>A novel form of human Mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism.</strong> J. Clin. Endocr. Metab. 93: 3117-3123, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18505761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18505761</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18505761[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/10.1210/jc.2008-0594" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18505761">Geller et al. (2008)</a> excluded mutation at the aldosterone synthase locus (CYP11B2; <a href="/entry/124080">124080</a>), further distinguishing the disorder from glucocorticoid-remediable aldosteronism. They also failed to identify disease-causing mutations in DAX1 (<a href="/entry/300473">300473</a>), AD4BP (NR5A1; <a href="/entry/184757">184757</a>), NUR77 (NR4A1; <a href="/entry/139139">139139</a>), and NURR1 (NR4A2; <a href="/entry/601828">601828</a>) by direct sequencing of coding exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18505761" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected individuals with early-onset primary aldosteronism from 4 unrelated families that were known to be negative for chimeric fusion of the CYP11B1 (<a href="/entry/610613">610613</a>) and CYP11B2 (<a href="/entry/124080">124080</a>) genes, <a href="#10" class="mim-tip-reference" title="Scholl, U. I., Nelson-Williams, C., Yue, P., Grekin, R., Wyatt, R. J., Dillon, M. J., Couch, R., Hammer, L. K., Harley, F. L., Farhi, A., Wang, W.-H., Lifton, R. P. <strong>Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.</strong> Proc. Nat. Acad. Sci. 109: 2533-2538, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22308486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22308486</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22308486[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.1121407109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22308486">Scholl et al. (2012)</a> identified heterozygosity for 2 different missense mutations at the same codon in the KCNJ5 gene: G151R (<a href="/entry/600734#0004">600734.0004</a>) in 2 families with severe progressive aldosteronism and hyperplasia requiring bilateral adrenalectomy in childhood for blood pressure control, and G151E (<a href="/entry/600734#0005">600734.0005</a>) in 2 families that had more easily controlled hypertension and no evidence of adrenal hyperplasia. Histopathology of adrenalectomized patients with the G151R mutation showed adrenal enlargement and hyperplasia of the adrenal cortex in all but the youngest patient, who underwent surgery at 18 months of age. Adrenal histology from 1 patient carrying the G151E mutation, who underwent adrenalectomy before availability of spironolactone for the treatment of hypertension, was reported as normal. Electrophysiologic analysis demonstrated that although both mutations alter the K+ selectivity of the channel, the G151E mutation causes much greater Na+ conductance than G151R, resulting in rapid Na(+)-dependent cell lethality. <a href="#10" class="mim-tip-reference" title="Scholl, U. I., Nelson-Williams, C., Yue, P., Grekin, R., Wyatt, R. J., Dillon, M. J., Couch, R., Hammer, L. K., Harley, F. L., Farhi, A., Wang, W.-H., Lifton, R. P. <strong>Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.</strong> Proc. Nat. Acad. Sci. 109: 2533-2538, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22308486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22308486</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22308486[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.1121407109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22308486">Scholl et al. (2012)</a> proposed that the increased lethality associated with the G151E mutation limits adrenocortical cell mass and severity of aldosteronism in vivo, thus paradoxically resulting in a milder phenotype in those patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22308486" 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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Bartter, F. C., Biglieri, E. G.
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<strong>Primary aldosteronism: clinical staff conference at the National Institutes of Health.</strong>
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Ann. Intern. Med. 48: 647-654, 1958.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13521591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13521591</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13521591" 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/10.7326/0003-4819-48-3-647" target="_blank">Full Text</a>]
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Charmandari, E., Sertedaki, A., Kino, T., Merakou, C., Hoffman, D. A., Hatch, M. M., Hurt, D. E., Lin, L., Xekouki, P., Stratakis, C. A., Chrousos, G. P.
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<strong>A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension.</strong>
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J. Clin. Endocr. Metab. 97: E1532-E1539, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22628607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22628607</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22628607[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=22628607" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1210/jc.2012-1334" target="_blank">Full Text</a>]
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Choi, M., Scholl, U. I., Yue, P., Bjorklund, P., Zhao, B., Nelson-Williams, C., Ji, W., Cho, Y., Patel, A., Men, C. J., Lolis, E., Wisgerhof, M. V., Geller, D. S., Mane, S., Hellman, P., Westin, G., Akerstrom, G., Wang, W., Carling, T., Lifton, R. P.
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<strong>K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.</strong>
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Science 331: 768-772, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21311022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21311022</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21311022[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=21311022" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.1198785" target="_blank">Full Text</a>]
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Geller, D. S., Zhang, J., Wisgerhof, M. V., Shackleton, C., Kashgarian, M., Lifton, R. P.
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<strong>A novel form of human Mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism.</strong>
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J. Clin. Endocr. Metab. 93: 3117-3123, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18505761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18505761</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18505761[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=18505761" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1210/jc.2008-0594" target="_blank">Full Text</a>]
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<a id="Greco1982" class="mim-anchor"></a>
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Greco, R. G., Carroll, J. E., Morris, D. J., Grekin, R. J., Melby, J. C.
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<strong>Familial hyperaldosteronism, not suppressed by dexamethasone.</strong>
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J. Clin. Endocr. Metab. 55: 1013-1016, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7119083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7119083</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7119083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1210/jcem-55-5-1013" target="_blank">Full Text</a>]
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<a id="Kokunai2014" class="mim-anchor"></a>
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Kokunai, Y., Nakata, T., Furuta, M., Sakata, S., Kimura, H., Aiba, T., Yoshinaga, M., Osaki, Y., Nakamori, M., Itoh, H., Sato, T., Kubota, T., Kadota, K., Shindo, K., Mochizuki, H., Shimizu, W., Horie, M., Okamura, Y., Ohno, K., Takahashi, M. P.
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<strong>A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1.</strong>
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Neurology 82: 1058-1064, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24574546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24574546</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24574546" 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/10.1212/WNL.0000000000000239" target="_blank">Full Text</a>]
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<a id="Mulatero2013" class="mim-anchor"></a>
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Mulatero, P., Monticone, S., Rainey, W. E., Veglio, F., Williams, T. A.
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<strong>Role of KCNJ5 in familial and sporadic primary aldosteronism.</strong>
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Nature Rev. Endocr. 9: 104-112, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23229280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23229280</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23229280" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nrendo.2012.230" target="_blank">Full Text</a>]
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<a id="Mulatero2012" class="mim-anchor"></a>
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Mulatero, P., Tauber, P., Zennaro, M.-C., Monticone, S., Lang, K., Beuschlein, F., Fischer, E., Tizzani, D., Pallauf, A., Viola, A., Amar, L., Williams, T. A., and 10 others.
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<strong>KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism.</strong>
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Hypertension 59: 235-240, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22203740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22203740</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22203740" 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/10.1161/HYPERTENSIONAHA.111.183996" target="_blank">Full Text</a>]
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<a id="Murthy2014" class="mim-anchor"></a>
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Murthy, M., Xu, S., Massimo, G., Wolley, M., Gordon, R. D., Stowasser, M., O'Shaughnessy, K. M.
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<strong>Role for germline mutations and a rare coding single nucleotide polymorphism within the KCNJ5 potassium channel in a large cohort of sporadic cases of primary aldosteronism.</strong>
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Hypertension 63: 783-789, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24420545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24420545</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24420545" 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/10.1161/HYPERTENSIONAHA.113.02234" target="_blank">Full Text</a>]
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<a id="Scholl2012" class="mim-anchor"></a>
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Scholl, U. I., Nelson-Williams, C., Yue, P., Grekin, R., Wyatt, R. J., Dillon, M. J., Couch, R., Hammer, L. K., Harley, F. L., Farhi, A., Wang, W.-H., Lifton, R. P.
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<strong>Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.</strong>
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Proc. Nat. Acad. Sci. 109: 2533-2538, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22308486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22308486</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22308486[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=22308486" 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/10.1073/pnas.1121407109" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 6/6/2014
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Cassandra L. Kniffin - updated : 4/21/2014<br>Ada Hamosh - updated : 5/6/2011
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<span class="mim-text-font">
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John A. Phillips, III : 12/21/2010
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alopez : 01/14/2025
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carol : 02/06/2024<br>alopez : 07/12/2016<br>carol : 6/13/2014<br>alopez : 6/12/2014<br>mcolton : 6/6/2014<br>carol : 4/23/2014<br>mcolton : 4/22/2014<br>ckniffin : 4/21/2014<br>carol : 10/14/2013<br>carol : 10/11/2013<br>alopez : 5/10/2011<br>terry : 5/6/2011<br>alopez : 1/6/2011<br>alopez : 12/21/2010
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<span class="mim-font">
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<strong>#</strong> 613677
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HYPERALDOSTERONISM, FAMILIAL, TYPE III; HALD3
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<em>Alternative titles; symbols</em>
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FH III
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<strong>SNOMEDCT:</strong> 703234002;
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<strong>ORPHA:</strong> 251274;
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<strong>DO:</strong> 446;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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11q24.3
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<span class="mim-font">
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Hyperaldosteronism, familial, type III
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<span class="mim-font">
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613677
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<span class="mim-font">
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Autosomal dominant
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<td>
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<span class="mim-font">
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3
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KCNJ5
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<span class="mim-font">
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600734
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that familial hyperaldosteronism type III (HALD3) is caused by heterozygous mutation in the KCNJ5 gene (600734) on chromosome 11q24.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of familial hyperaldosteronism, see HALD1 (103900).</p>
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<strong>Description</strong>
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<p>Hyperaldosteronism type III (HALD3) is characterized by hypertension secondary to massive adrenal mineralocorticoid production. Like patients with glucocorticoid-remediable aldosteronism (GRA, or HALD1; 103900), patients with HALD3 present with childhood hypertension, elevated aldosteronism levels, and high levels of the hybrid steroids 18-oxocortisol and 18-hydroxycortisol. However, hypertension and aldosteronism in HALD3 are not reversed by administration of exogenous glucocorticoids and patients require adrenalectomy to control hypertension (Geller et al., 2008). </p>
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<strong>Clinical Features</strong>
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<p>Geller et al. (2008) reported a novel familial form of aldosteronism in a father and 2 daughters. All were diagnosed with severe secondary hypertension (HTN) refractory to medical treatment by age 7 years. Geller et al. (2008) performed a variety of clinical, biochemical, and genetic studies to attempt to clarify the underlying molecular defect. Biochemical studies revealed hyporeninemia, hyperaldosteronism, and very high levels of 18-oxocortisol and 18-hydroxycortisol, steroids that reflect oxidation by both steroid 17-alpha hydroxylase and aldosterone synthase. These enzymes are normally compartmentalized in the adrenal fasciculata and glomerulosa, respectively. Administration of dexamethasone failed to suppress either aldosterone or cortisol secretion; these findings distinguished this clinical syndrome from glucocorticoid-remediable aldosteronism (GRA; 103900), another autosomal dominant form of HTN, and suggested a global defect in the regulation of adrenal steroid production. Because of unrelenting HTN, all 3 subjects underwent bilateral adrenalectomy, which in each case corrected the HTN. Adrenal glands showed dramatic enlargement, with paired adrenal weights as high as 82 grams. Histology revealed massive hyperplasia and cellular hypertrophy of a single cortical compartment that had features of adrenal fasciculata or a transitional zone, with an atrophic glomerulosa. </p><p>Mulatero et al. (2012) described an Italian mother and daughter with primary hyperaldosteronism in whom the presence of the chimeric gene responsible for GRA had been excluded. The mother, who had a history of polyuria in the first decade of life, was initially reported to be hypertensive at age 18 years. Primary aldosteronism was diagnosed at 27 years of age, when she presented with hypertension, hypokalemia, decreased plasma renin activity, and elevated aldosterone levels that did not normalize after dexamethasone administration. On electrocardiogram, QTc was slightly prolonged at 456 ms, even after normalization of potassium levels. The daughter had polyuria and polydipsia at 2 years of age, and evaluation revealed hypertension, hypokalemia, and severe hyperaldosteronism with hypotonic urine and hypercalciuria. CT scans of the adrenal glands were normal in both patients, and symptoms in both were controlled with medication. </p><p>Scholl et al. (2012) studied 4 unrelated kindreds with very early-onset primary aldosteronism, with all but 1 of the 10 affected members diagnosed before 6 years of age. In 2 of the families, blood pressure was difficult to control, and aldosteronism progressed with age. The 38-year-old proband of the first family presented at 22 months of age with muscle weakness, severe hypokalemia, and hypertension that persisted despite treatment with spironolactone. She underwent removal of a hyperplastic left adrenal gland at 32 months of age, but her symptoms persisted, and the right adrenal gland was removed at 4.3 years of age; both adrenal glands were markedly enlarged and showed hyperplasia of the zona glomerulosa and fasciculata. The bilateral adrenalectomy normalized blood pressure and K+ levels. The proband had 2 affected daughters, both of whom were diagnosed before 2 years of age and had hypertension refractory to spironolactone treatment; both had normalization of blood pressure, potassium, and aldosterone levels after bilateral adrenalectomy. The affected individual in the second family presented at 4 years of age with hypertension, hypokalemia, metabolic alkalosis, and an elevated serum aldosterone level with suppressed plasma renin activity. Ultrasound of the abdomen was normal. She had difficult-to-control hypertension, and was lost to follow-up. In the third and fourth families, spironolactone normalized blood pressure, and there was no progression of disease with age. The proband of the third family was a 38-year-old woman, previously described by Greco et al. (1982), who presented at 26 months of age with hypertension and hyperaldosteronism. Treatment with spironolactone normalized her blood pressure, and she did not have progression of hypertension or growth of the adrenal glands with age; CT scan at age 37 years revealed no adrenal abnormality. She had 2 affected children, both diagnosed before 2 years of age and successfully treated with spironolactone. Her affected father, who was reported by Bartter and Biglieri (1958), had early hypertension and aldosteronism and underwent near-total bilateral adrenalectomy at 14 years of age, before the availability of mineralocorticoid receptor antagonists. The glands were described as histologically normal, and he was normotensive and normokalemic thereafter. The fourth family consisted of a father and son who both presented in the first few years of life with hypertension and elevated aldosterone. The father underwent bilateral adrenalectomy at 6 years of age; the son was successfully treated with spironolactone. </p><p>Charmandari et al. (2012) reported a mother and daughter with severe primary aldosteronism and bilateral massive adrenal hyperplasia resulting in early-onset hypertension refractory to medical treatment. The mother, who was diagnosed at 7 years of age, underwent bilateral adrenalectomy at age 13 due to persistent hypertension, with complete normalization of blood pressure and serum potassium levels postoperatively. The daughter, who presented at 2 years of age with severe hypertension, hypokalemia, hyperaldosteronism, and suppressed plasma renin activity, had normal growth and development, with no hirsutism or virilization at puberty. Hypertension persisted at age 15 despite treatment with multiple medications, including spironolactone. MRI of the adrenal glands confirmed massive bilateral adrenal hyperplasia, and she underwent near-total bilateral adrenalectomy. Over subsequent years, further hyperplasia of the remaining right adrenal gland was documented, and she had recurrence of the symptoms and signs of primary hyperaldosteronism; removal of the remaining gland was planned. </p>
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<p>The transmission pattern of HALD3 in the family reported by Geller et al. (2008) and Choi et al. (2011) was consistent with autosomal dominant inheritance. </p>
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<p>In the family with hyperaldosteronism reported by Geller et al. (2008), Choi et al. (2011) identified a missense mutation in the potassium channel gene KCNJ5 at codon 158 (T158A; 600734.0002). This mutation produced increased sodium conductance and caused severe hypertension. Choi et al. (2011) also identified 2 recurrent somatic mutations in and near the selectivity filter of KCNJ5, G151R (600734.0004), and L168R, that were present in 8 of 22 human aldosterone-producing adrenal adenomas studied. These 2 mutations produced increased sodium conductance and cell depolarization, which in adrenal glomerulosa cells produces calcium entry, the signal for aldosterone production and cell proliferation. </p><p>Mulatero et al. (2012) analyzed the candidate gene KCNJ5 in 21 European families with primary hyperaldosteronism in which the presence of the chimeric gene responsible for type I familial hyperaldosteronism had been excluded. In an affected Italian mother and daughter, they identified heterozygosity for a missense mutation (G151E; 600734.0005) that was not found in 7 unaffected family members. In addition, they identified 3 somatic KCNJ5 mutations, T158A, G151R, and L168R, in aldosterone-producing adenomas (APAs) from 3 unrelated affected individuals. </p><p>After exclusion of chimeric fusion of CYP11B1/CYP11B2 or mutation in the AT1R gene (106165) in a mother and daughter with severe aldosteronism requiring total adrenalectomy, Charmandari et al. (2012) sequenced the candidate genes KCNK3 (603220), KCNK5 (603493), KCNK9 (605874), and KCNJ5, and identified heterozygosity for a missense mutation in the KCNJ5 gene (I157S; 600734.0006). </p><p>Murthy et al. (2014) analyzed the KCNJ5 gene in 251 patients with apparent sporadic florid primary aldosteronism, and identified 3 heterozygous missense mutations, G247R (rs200170681; 600734.0003), E246K (600734.0007), and R52H (rs144062083). In addition, 12 (5%) of the 251 patients carried the rare SNP E282Q (rs7102584), present at a population frequency of 2% in the 1000 Genomes cohort. Although remote from the KCNJ5 selectivity filter, 3 of the 4 variants (E246K, R52H, and E282Q) were shown to alter inward rectification, conduction of Na+ currents, and angiotensin II (106150)-induced aldosterone release in the H295R cell line, a well-established model for the human zona glomerulosa cell. Results of electrophysiologic analysis of the G247R channel, however, were indistinguishable from those of the wildtype channel. </p><p>Kokunai et al. (2014) identified the T158A mutation in the KCNJ5 gene in a patient with prolonged QU on ECG who developed a hypokalemic paralytic attack and primary aldosteronism 2 years later. The patient was 1 of 21 patients with a phenotype resembling Andersen-Tawil syndrome (LQT7; 170390) who did not carry a mutation in the KCNJ2 gene (600681). The findings expanded the phenotype associated with this mutation. </p><p><strong><em>Reviews</em></strong></p><p>
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Mulatero et al. (2013) reviewed the role of KCNJ5 in adrenal pathophysiology and provided an overview of the clinical and biochemical phenotypes resulting from KCNJ5 mutations in patients with sporadic and familial primary aldosteronism. The authors stated that the prevalence of FH III appeared to be 7% of patients with familial aldosteronism and 0.3% of all cases of primary hyperaldosteronism. In addition, they noted that the total prevalence of reported KCNJ5 mutations in aldosterone-producing adrenal adenomas (APAs) was 40%. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
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In a family with hyperaldosteronism, Geller et al. (2008) excluded mutation at the aldosterone synthase locus (CYP11B2; 124080), further distinguishing the disorder from glucocorticoid-remediable aldosteronism. They also failed to identify disease-causing mutations in DAX1 (300473), AD4BP (NR5A1; 184757), NUR77 (NR4A1; 139139), and NURR1 (NR4A2; 601828) by direct sequencing of coding exons. </p>
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<p>In affected individuals with early-onset primary aldosteronism from 4 unrelated families that were known to be negative for chimeric fusion of the CYP11B1 (610613) and CYP11B2 (124080) genes, Scholl et al. (2012) identified heterozygosity for 2 different missense mutations at the same codon in the KCNJ5 gene: G151R (600734.0004) in 2 families with severe progressive aldosteronism and hyperplasia requiring bilateral adrenalectomy in childhood for blood pressure control, and G151E (600734.0005) in 2 families that had more easily controlled hypertension and no evidence of adrenal hyperplasia. Histopathology of adrenalectomized patients with the G151R mutation showed adrenal enlargement and hyperplasia of the adrenal cortex in all but the youngest patient, who underwent surgery at 18 months of age. Adrenal histology from 1 patient carrying the G151E mutation, who underwent adrenalectomy before availability of spironolactone for the treatment of hypertension, was reported as normal. Electrophysiologic analysis demonstrated that although both mutations alter the K+ selectivity of the channel, the G151E mutation causes much greater Na+ conductance than G151R, resulting in rapid Na(+)-dependent cell lethality. Scholl et al. (2012) proposed that the increased lethality associated with the G151E mutation limits adrenocortical cell mass and severity of aldosteronism in vivo, thus paradoxically resulting in a milder phenotype in those patients. </p>
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<strong>REFERENCES</strong>
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</h4>
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Bartter, F. C., Biglieri, E. G.
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<strong>Primary aldosteronism: clinical staff conference at the National Institutes of Health.</strong>
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Ann. Intern. Med. 48: 647-654, 1958.
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[PubMed: 13521591]
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[Full Text: https://doi.org/10.7326/0003-4819-48-3-647]
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Charmandari, E., Sertedaki, A., Kino, T., Merakou, C., Hoffman, D. A., Hatch, M. M., Hurt, D. E., Lin, L., Xekouki, P., Stratakis, C. A., Chrousos, G. P.
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<strong>A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension.</strong>
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J. Clin. Endocr. Metab. 97: E1532-E1539, 2012.
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Choi, M., Scholl, U. I., Yue, P., Bjorklund, P., Zhao, B., Nelson-Williams, C., Ji, W., Cho, Y., Patel, A., Men, C. J., Lolis, E., Wisgerhof, M. V., Geller, D. S., Mane, S., Hellman, P., Westin, G., Akerstrom, G., Wang, W., Carling, T., Lifton, R. P.
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<strong>K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.</strong>
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Science 331: 768-772, 2011.
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[PubMed: 21311022]
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[Full Text: https://doi.org/10.1126/science.1198785]
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Geller, D. S., Zhang, J., Wisgerhof, M. V., Shackleton, C., Kashgarian, M., Lifton, R. P.
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<strong>A novel form of human Mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism.</strong>
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J. Clin. Endocr. Metab. 93: 3117-3123, 2008.
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[PubMed: 18505761]
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[Full Text: https://doi.org/10.1210/jc.2008-0594]
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Greco, R. G., Carroll, J. E., Morris, D. J., Grekin, R. J., Melby, J. C.
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<strong>Familial hyperaldosteronism, not suppressed by dexamethasone.</strong>
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J. Clin. Endocr. Metab. 55: 1013-1016, 1982.
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[PubMed: 7119083]
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[Full Text: https://doi.org/10.1210/jcem-55-5-1013]
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Kokunai, Y., Nakata, T., Furuta, M., Sakata, S., Kimura, H., Aiba, T., Yoshinaga, M., Osaki, Y., Nakamori, M., Itoh, H., Sato, T., Kubota, T., Kadota, K., Shindo, K., Mochizuki, H., Shimizu, W., Horie, M., Okamura, Y., Ohno, K., Takahashi, M. P.
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<strong>A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1.</strong>
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Neurology 82: 1058-1064, 2014.
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[PubMed: 24574546]
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[Full Text: https://doi.org/10.1212/WNL.0000000000000239]
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Mulatero, P., Monticone, S., Rainey, W. E., Veglio, F., Williams, T. A.
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<strong>Role of KCNJ5 in familial and sporadic primary aldosteronism.</strong>
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Nature Rev. Endocr. 9: 104-112, 2013.
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[PubMed: 23229280]
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[Full Text: https://doi.org/10.1038/nrendo.2012.230]
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Mulatero, P., Tauber, P., Zennaro, M.-C., Monticone, S., Lang, K., Beuschlein, F., Fischer, E., Tizzani, D., Pallauf, A., Viola, A., Amar, L., Williams, T. A., and 10 others.
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<strong>KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism.</strong>
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Hypertension 59: 235-240, 2012.
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[PubMed: 22203740]
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[Full Text: https://doi.org/10.1161/HYPERTENSIONAHA.111.183996]
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Murthy, M., Xu, S., Massimo, G., Wolley, M., Gordon, R. D., Stowasser, M., O'Shaughnessy, K. M.
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<strong>Role for germline mutations and a rare coding single nucleotide polymorphism within the KCNJ5 potassium channel in a large cohort of sporadic cases of primary aldosteronism.</strong>
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Hypertension 63: 783-789, 2014.
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[PubMed: 24420545]
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[Full Text: https://doi.org/10.1161/HYPERTENSIONAHA.113.02234]
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Scholl, U. I., Nelson-Williams, C., Yue, P., Grekin, R., Wyatt, R. J., Dillon, M. J., Couch, R., Hammer, L. K., Harley, F. L., Farhi, A., Wang, W.-H., Lifton, R. P.
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<strong>Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.</strong>
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Proc. Nat. Acad. Sci. 109: 2533-2538, 2012.
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[PubMed: 22308486]
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[Full Text: https://doi.org/10.1073/pnas.1121407109]
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Marla J. F. O'Neill - updated : 6/6/2014<br>Cassandra L. Kniffin - updated : 4/21/2014<br>Ada Hamosh - updated : 5/6/2011
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To ensure long-term funding for the OMIM project, we have diversified
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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