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Entry
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- %145260 - PSEUDOHYPOALDOSTERONISM, TYPE IIA; PHA2A
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- OMIM
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<p>
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<span class="h4">%145260</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="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="/clinicalSynopsis/145260"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS145260"> <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="#clinicalManagement">Clinical Management</a>
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<a href="#mapping">Mapping</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=7830" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+7830" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/7830" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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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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<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=PSEUDOHYPOALDOSTERONISM, TYPE IIA" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=3723&Typ=Pat" title="Pseudohypoaldosteronism type 2" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Pseudohypoaldosteronism ty… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11870&Typ=Pat" title="Pseudohypoaldosteronism type 2A" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Pseudohypoaldosteronism ty… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK65707/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=145260[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=757" title="Pseudohypoaldosteronism type 2" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Pseudohypoaldosteronism ty…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=88938" title="Pseudohypoaldosteronism type 2A" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Pseudohypoaldosteronism ty…</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 15689008, 703254001<br />
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<strong>ORPHA:</strong> 757, 88938<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description or locus, molecular basis unknown">
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<span class="text-danger"><strong>%</strong></span>
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145260
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</span>
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</span>
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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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PSEUDOHYPOALDOSTERONISM, TYPE IIA; PHA2A
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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HYPERPOTASSEMIA AND HYPERTENSION, FAMILIAL<br />
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HYPERTENSIVE HYPERKALEMIA, FAMILIAL<br />
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GORDON HYPERKALEMIA-HYPERTENSION SYNDROME
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/1/1506?start=-3&limit=10&highlight=1506">1q31-q42</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:185800001-236400000&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">1:185,800,001-236,400,000</a> </span>
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</strong>
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</span>
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</p>
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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="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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<td rowspan="1">
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<span class="mim-font">
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<a href="/geneMap/1/1506?start=-3&limit=10&highlight=1506">
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1q31-q42
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Pseudohypoaldosteronism, type IIA
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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/145260"> 145260 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods">2</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/145260" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS145260" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/145260" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/145260" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> CARDIOVASCULAR </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Vascular </em>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
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- Hypertension, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276943&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276943</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 />
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</span>
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</div>
|
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</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Muscle aches, intermittent <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276942&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276942</a>]</span><br />
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</span>
|
|
</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hyperkalemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/238142003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">238142003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14140009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14140009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166689004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166689004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E87.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E87.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/276.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">276.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5700154&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5700154</a>, <a href="https://bioportal.bioontology.org/search?q=C0020461&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020461</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002153" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002153</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002153" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002153</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Responsive to thiazide diuretics<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
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|
|
</div>
|
|
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|
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|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Pseudohypoaldosteronism, type II
|
|
- <a href="/phenotypicSeries/PS145260">PS145260</a>
|
|
- 5 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1506?start=-3&limit=10&highlight=1506"> 1q31-q42 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/145260"> Pseudohypoaldosteronism, type IIA </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/145260"> 145260 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/145260"> PHA2A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/145260"> 145260 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1065?start=-3&limit=10&highlight=1065"> 2q36.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614496"> Pseudohypoaldosteronism, type IIE </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/614496"> 614496 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603136"> CUL3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603136"> 603136 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/493?start=-3&limit=10&highlight=493"> 5q31.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614495"> Pseudohypoaldosteronism, type IID </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/614495"> 614495 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605775"> KLHL3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605775"> 605775 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/10?start=-3&limit=10&highlight=10"> 12p13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614492"> Pseudohypoaldosteronism, type IIC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
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<p>Pseudohypoaldosteronism type II (PHA2), also known as Gordon hyperkalemia-hypertension syndrome, is characterized by hyperkalemia despite normal renal glomerular filtration, hypertension, and correction of physiologic abnormalities by thiazide diuretics. Mild hyperchloremia, metabolic acidosis, and suppressed plasma renin (<a href="/entry/179820">179820</a>) activity are variable associated findings (summary by <a href="#12" class="mim-tip-reference" title="Mansfield, T. A., Simon, D. B., Farfel, Z., Bia, M., Tucci, J. R., Lebel, M., Gutkin, M., Vialettes, B., Christofilis, M. A., Kauppinen-Makelin, R., Mayan, H., Risch, N., Lifton, R. P. <strong>Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21.</strong> Nature Genet. 16: 202-205, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9171836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9171836</a>] [<a href="https://doi.org/10.1038/ng0697-202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9171836">Mansfield et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9171836" 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>Genetic Heterogeneity of Pseudohypoaldosteronism Type II</em></strong></p><p>
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PHA2A has been mapped to chromosome 1q31-q42. PHA2B (<a href="/entry/614491">614491</a>) is caused by mutations in the WNK4 gene on chromosome 17q21 (<a href="/entry/601844">601844</a>). PHA2C (<a href="/entry/614492">614492</a>) is caused by mutations in the WNK1 gene on chromosome 12p13 (<a href="/entry/605232">605232</a>). PHA2D (<a href="/entry/614495">614495</a>) is caused by mutations in the KLHL3 gene (<a href="/entry/605775">605775</a>) on chromosome 5q31. PHA2E (<a href="/entry/614496">614496</a>) is caused by mutations in the CUL3 gene (<a href="/entry/603136">603136</a>) on chromosome 2q36.</p><p><a href="#1" class="mim-tip-reference" title="Boyden, L. M., Choi, M., Choate, K. A., Nelson-Williams, C. J., Farhi, A., Toka, H. R., Tikhonova, I. R., Bjornson, R., Mane, S. M., Colussi, G., Lebel, M., Gordon, R. D., and 34 others. <strong>Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.</strong> Nature 482: 98-102, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22266938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22266938</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22266938[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/10.1038/nature10814" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22266938">Boyden et al. (2012)</a> observed that families with PHA type II due to mutation in the WNK1 gene (PHA2C) are significantly less severely affected than those with mutation in WNK4 (PHA2B) or dominant or recessive mutation in the KLHL3 gene (PHA2D), and all are less severely affected than those with dominant mutations in the CUL3 gene (PHA2E). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22266938" 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="#2" class="mim-tip-reference" title="Brautbar, N., Levi, J., Rosler, A., Leitersdorf, E., Djaldetti, M., Epstein, M., Kleeman, C. R. <strong>Familial hyperkalemia, hypertension, and hyporeninemia with normal aldosterone levels: a tubular defect in potassium handling.</strong> Arch. Intern. Med. 138: 607-610, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/637641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">637641</a>]" pmid="637641">Brautbar et al. (1978)</a> described a 52-year-old man with hypertension, persistent hyperkalemia, and hyperchloremic metabolic acidosis. Four other members of the family, including the brother and son of the proband, were identically affected. Renal and adrenal functions were grossly normal. Plasma aldosterone was normal, although plasma renin activity was undetectable. Inability to increase potassium excretion when exogenous mineralocorticoid was given indicated a distal tubular defect in potassium handling. Reduction of the hyperkalemia with an ion exchange resin (polystyrene sodium sulfonate) given by mouth corrected the hyperchloremic acidosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=637641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Gordon, R. D., Geddes, R. A., Pawsey, C. G. K., O'Halloran, M. W. <strong>Hypertension and severe hyperkalaemia associated with suppression of renin and aldosterone and completely reversed by dietary sodium restriction.</strong> Australas. Ann. Med. 19: 287-294, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5490655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5490655</a>] [<a href="https://doi.org/10.1111/imj.1970.19.4.287" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5490655">Gordon et al. (1970)</a> studied an isolated case. Male-to-male transmission was observed by <a href="#14" class="mim-tip-reference" title="Roy, C. <strong>Familial pseudohypoaldosteronism (a series of 5 cases).</strong> Arch. Franc. Pediat. 34: 37-54, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/851368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">851368</a>]" pmid="851368">Roy (1977)</a>. <a href="#11" class="mim-tip-reference" title="Limal, J. M., Rappaport, R., Dechaux, M., Riffaud, C., Morin, C. <strong>Familial dominant pseudohypoaldosteronism. (Letter)</strong> Lancet 311: 51 only, 1978. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/74536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">74536</a>] [<a href="https://doi.org/10.1016/s0140-6736(78)90404-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="74536">Limal et al. (1978)</a> reported 7 affected persons in 3 generations with no male-to-male transmission. <a href="#8" class="mim-tip-reference" title="Lee, M. R., Ball, S. G., Thomas, T. H., Morgan, D. B. <strong>Hypertension and hyperkalaemia responding to bendrofluazide.</strong> Quart. J. Med. 48: 245-258, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/504550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">504550</a>]" pmid="504550">Lee et al. (1979)</a> emphasized the good response to bendrofluazide. <a href="#7" class="mim-tip-reference" title="Iitaka, K., Watanabe, N., Asakura, A., Kasai, N., Sakai, T. <strong>Familial hyperkalemia, metabolic acidosis and short stature with normal renin and aldosterone levels.</strong> Int. J. Pediat. Nephrol. 1: 242-245, 1980."None>Iitaka et al. (1980)</a> observed affected brother and sister. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=851368+5490655+504550+74536" 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>Type II pseudohypoaldosteronism was the designation used by <a href="#16" class="mim-tip-reference" title="Schambelan, M., Sebastian, A., Rector, F. C., Jr. <strong>Mineralocorticoid-resistant renal hyperkalemia without salt wasting (type II pseudohypoaldosteronism): role of increased renal chloride reabsorption.</strong> Kidney Int. 19: 716-727, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7026872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7026872</a>] [<a href="https://doi.org/10.1038/ki.1981.72" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7026872">Schambelan et al. (1981)</a> for this syndrome of chronic mineralocorticoid-resistant hyperkalemia with hypertension. Whereas the primary defect in type I PHA (see <a href="/entry/264350">264350</a> and <a href="/entry/177735">177735</a>) is a specific abnormality in renal response to mineralocorticoid hormone (<a href="/entry/600983">600983</a>) (a receptor disorder) leading to the coexistence of salt wasting and potassium retention, the primary abnormality in type II PHA is thought to be a specific defect of the renal secretory mechanism for potassium, which limits the kaliuretic response to, but not the sodium and chloride reabsorptive effect of, mineralocorticoid. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7026872" 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="Licht, J. H., Amundson, D., Hsueh, W. A., Lombardo, J. V. <strong>Familiar hyperkalaemic acidosis.</strong> Quart. J. Med. 54: 161-176, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3885297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3885297</a>]" pmid="3885297">Licht et al. (1985)</a> reported a 3-generation family. They noted that in some cases, short stature, intellectual impairment, and dental abnormalities had been observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3885297" 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="Gordon, R. D., Ravenscroft, P. J., Klemm, S. A., Tunny, T. J., Hamlet, S. M. <strong>A new Australian kindred with the syndrome of hypertension and hyperkalaemia has dysregulation of atrial natriuretic factor.</strong> J. Hypertens. Suppl. 6: S323-S326, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2977171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2977171</a>] [<a href="https://doi.org/10.1097/00004872-198812040-00100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2977171">Gordon et al. (1988)</a> described an Australian family with 6 affected members in 2 generations and referred to the condition as Gordon syndrome or hyporeninemic hypoaldosteronism. (<a href="#4" class="mim-tip-reference" title="Gordon, R. D. <strong>Heterogeneous hypertension.</strong> Nature Genet. 11: 6-9, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7550315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7550315</a>] [<a href="https://doi.org/10.1038/ng0995-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7550315">Gordon (1995)</a> stated that de Wardener first termed it Gordon syndrome.) Studies suggested dysregulation of atrial natriuretic factor (ANP; <a href="/entry/108780">108780</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2977171+7550315" 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="#13" class="mim-tip-reference" title="Pasman, J. W., Gabreels, F. J. M., Semmekrot, B., Renier, W. O., Monnens, L. A. H. <strong>Hyperkalemic periodic paralysis in Gordon's Syndrome: a possible defect in atrial natriuretic peptide function.</strong> Ann. Neurol. 26: 392-395, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2529811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2529811</a>] [<a href="https://doi.org/10.1002/ana.410260314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2529811">Pasman et al. (1989)</a> described a 14-year-old boy who had secondary hyperkalemic periodic paralysis caused by the Gordon syndrome. They suggested that in this disorder the kidney may lack sensitivity to ANP. After treatment with hydrochlorothiazide, serum potassium and plasma aldosterone values, plasma renin activity, and blood pressure became normal and the attacks of periodic paralysis disappeared. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2529811" 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="#18" class="mim-tip-reference" title="Take, C., Ikeda, K., Kurasawa, T., Kurokawa, K. <strong>Increased chloride reabsorption as an inherited renal tubular defect in familial type II pseudohypoaldosteronism.</strong> New Eng. J. Med. 324: 472-476, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1988833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1988833</a>] [<a href="https://doi.org/10.1056/NEJM199102143240707" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1988833">Take et al. (1991)</a> described a 50-year-old Japanese man, his 24-year-old son and 21-year-old daughter with persistent hyperkalemia, hyperchloremic metabolic acidosis, and normal glomerular function with occasional elevation of blood pressure. The results of investigations supported the existence of sodium chloride shunting as the primary abnormality, as had been suggested by <a href="#16" class="mim-tip-reference" title="Schambelan, M., Sebastian, A., Rector, F. C., Jr. <strong>Mineralocorticoid-resistant renal hyperkalemia without salt wasting (type II pseudohypoaldosteronism): role of increased renal chloride reabsorption.</strong> Kidney Int. 19: 716-727, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7026872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7026872</a>] [<a href="https://doi.org/10.1038/ki.1981.72" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7026872">Schambelan et al. (1981)</a>, who found an abnormal increase in the reabsorption of chloride by the renal tubule. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1988833+7026872" 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="#19" class="mim-tip-reference" title="Throckmorton, D. C., Bia, M. J. <strong>Pseudohypoaldosteronism: case report and discussion of the syndrome.</strong> Yale J. Biol. Med. 64: 247-254, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1788991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1788991</a>]" pmid="1788991">Throckmorton and Bia (1991)</a> described an affected male who was 41 years old at the time that his disorder was first discovered. He complained of leg cramps and except for mild hypertension was otherwise found to be well. Hydrochlorothiazide controlled both his hyperkalemia and hypertension. At the other end of the age range were the infants with neonatal onset of Gordon syndrome described by <a href="#3" class="mim-tip-reference" title="Gereda, J. E., Bonilla-Felix, M., Kalil, B., Dewitt, S. J. <strong>Neonatal presentation of Gordon syndrome.</strong> J. Pediat. 129: 615-617, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8859273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8859273</a>] [<a href="https://doi.org/10.1016/s0022-3476(96)70131-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8859273">Gereda et al. (1996)</a>. Two sisters developed Gordon syndrome within the first 2 weeks of life. The mother, who had been reported by <a href="#15" class="mim-tip-reference" title="Sanjad, S. A., Mansour, F. M., Hernandez, R. H., Hill, L. L. <strong>Severe hypertension, hyperkalemia, and renal tubular acidosis responding to dietary sodium restriction.</strong> Pediatrics 69: 317-324, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7063287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7063287</a>]" pmid="7063287">Sanjad et al. (1982)</a>, also had Gordon syndrome. She had been seen at 13 years of age with severe hypertension, hyperkalemic metabolic acidosis, short stature, and pitted enamel hypoplasia of the teeth. Similar dental anomalies were observed in her father who did not have the metabolic abnormality. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1788991+7063287+8859273" 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>Thiazide diuretics correct abnormalities in virtually all PHA type II patients (<a href="#1" class="mim-tip-reference" title="Boyden, L. M., Choi, M., Choate, K. A., Nelson-Williams, C. J., Farhi, A., Toka, H. R., Tikhonova, I. R., Bjornson, R., Mane, S. M., Colussi, G., Lebel, M., Gordon, R. D., and 34 others. <strong>Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.</strong> Nature 482: 98-102, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22266938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22266938</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22266938[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/10.1038/nature10814" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22266938">Boyden et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22266938" 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>By analysis of linkage in 8 families in which PHA type II showed autosomal dominant transmission, <a href="#12" class="mim-tip-reference" title="Mansfield, T. A., Simon, D. B., Farfel, Z., Bia, M., Tucci, J. R., Lebel, M., Gutkin, M., Vialettes, B., Christofilis, M. A., Kauppinen-Makelin, R., Mayan, H., Risch, N., Lifton, R. P. <strong>Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21.</strong> Nature Genet. 16: 202-205, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9171836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9171836</a>] [<a href="https://doi.org/10.1038/ng0697-202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9171836">Mansfield et al. (1997)</a> demonstrated locus heterogeneity of the trait, with a multilocus lod score of 8.1 for linkage of the disorder to 1q31-q42 (PHA2A) and 17p11-q21 (PHA2B; <a href="/entry/614491">614491</a>). Analysis of both chromosome regions together yielded a lod score of 8.1 for linkage of all families to either chromosome 1 (68% of families) or chromosome 17 (32% of families), with odds of 130 million:1 favoring linkage to 2 loci over the null hypothesis of no linkage. The lod score for linkage to only chromosome 1 with locus heterogeneity was 3.95 with 68% of the families linked including the family described by <a href="#19" class="mim-tip-reference" title="Throckmorton, D. C., Bia, M. J. <strong>Pseudohypoaldosteronism: case report and discussion of the syndrome.</strong> Yale J. Biol. Med. 64: 247-254, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1788991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1788991</a>]" pmid="1788991">Throckmorton and Bia (1991)</a>. The lod score for linkage to only chromosome 17 with locus heterogeneity was 3.14 with 45% of families linked. The model specifying 2 linked loci had a likelihood 14,800-fold higher than the next most likely model of linkage only to chromosome 1, thus providing strong support for the 2-locus model. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1788991+9171836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Lee1980" class="mim-tip-reference" title="Lee, M. R., Morgan, D. B. <strong>Familial hyperkalaemia responsive to benzothiadiazine diuretic. (Letter)</strong> Lancet 315: 879 only, 1980. Note: Originally Volume I.">Lee and Morgan (1980)</a>; <a href="#Spitzer1973" class="mim-tip-reference" title="Spitzer, A., Edelmann, C. M., Jr., Goldberg, L. D., Henneman, P. H. <strong>Short stature, hyperkalemia and acidosis: a defect in renal transport of potassium.</strong> Kidney Int. 3: 251-257, 1973.">Spitzer et al. (1973)</a>; <a href="#Wehling1989" class="mim-tip-reference" title="Wehling, M., Kuhnle, U., Daumer, C., Armanini, D. <strong>Inheritance of mineralocorticoid effector abnormalities of human mononuclear leucocytes in families with pseudohypoaldosteronism.</strong> Clin. Endocr. 31: 597-605, 1989.">Wehling et al. (1989)</a>; <a href="#Weinstein1974" class="mim-tip-reference" title="Weinstein, S. F., Allan, D. M. E., Mendoza, S. A. <strong>Hyperkalemia, acidosis, and short stature associated with a defect in renal potassium excretion.</strong> J. Pediat. 85: 355-358, 1974.">Weinstein et al. (1974)</a>
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<a id="Boyden2012" class="mim-anchor"></a>
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Boyden, L. M., Choi, M., Choate, K. A., Nelson-Williams, C. J., Farhi, A., Toka, H. R., Tikhonova, I. R., Bjornson, R., Mane, S. M., Colussi, G., Lebel, M., Gordon, R. D., and 34 others.
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<strong>Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.</strong>
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Nature 482: 98-102, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22266938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22266938</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22266938[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=22266938" 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/nature10814" target="_blank">Full Text</a>]
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<a id="Brautbar1978" class="mim-anchor"></a>
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Brautbar, N., Levi, J., Rosler, A., Leitersdorf, E., Djaldetti, M., Epstein, M., Kleeman, C. R.
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<strong>Familial hyperkalemia, hypertension, and hyporeninemia with normal aldosterone levels: a tubular defect in potassium handling.</strong>
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Arch. Intern. Med. 138: 607-610, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/637641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">637641</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=637641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Gereda1996" class="mim-anchor"></a>
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Gereda, J. E., Bonilla-Felix, M., Kalil, B., Dewitt, S. J.
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<strong>Neonatal presentation of Gordon syndrome.</strong>
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J. Pediat. 129: 615-617, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8859273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8859273</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8859273" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(96)70131-2" target="_blank">Full Text</a>]
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<a id="Gordon1995" class="mim-anchor"></a>
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Gordon, R. D.
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<strong>Heterogeneous hypertension.</strong>
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Nature Genet. 11: 6-9, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7550315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7550315</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7550315" 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/ng0995-6" target="_blank">Full Text</a>]
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<a id="Gordon1970" class="mim-anchor"></a>
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Gordon, R. D., Geddes, R. A., Pawsey, C. G. K., O'Halloran, M. W.
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<strong>Hypertension and severe hyperkalaemia associated with suppression of renin and aldosterone and completely reversed by dietary sodium restriction.</strong>
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Australas. Ann. Med. 19: 287-294, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5490655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5490655</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5490655" 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/10.1111/imj.1970.19.4.287" target="_blank">Full Text</a>]
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Gordon, R. D., Ravenscroft, P. J., Klemm, S. A., Tunny, T. J., Hamlet, S. M.
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<strong>A new Australian kindred with the syndrome of hypertension and hyperkalaemia has dysregulation of atrial natriuretic factor.</strong>
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J. Hypertens. Suppl. 6: S323-S326, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2977171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2977171</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2977171" 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/10.1097/00004872-198812040-00100" target="_blank">Full Text</a>]
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<a id="Iitaka1980" class="mim-anchor"></a>
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Iitaka, K., Watanabe, N., Asakura, A., Kasai, N., Sakai, T.
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<strong>Familial hyperkalemia, metabolic acidosis and short stature with normal renin and aldosterone levels.</strong>
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Int. J. Pediat. Nephrol. 1: 242-245, 1980.
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<a id="Lee1979" class="mim-anchor"></a>
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Lee, M. R., Ball, S. G., Thomas, T. H., Morgan, D. B.
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<strong>Hypertension and hyperkalaemia responding to bendrofluazide.</strong>
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Quart. J. Med. 48: 245-258, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/504550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">504550</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=504550" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Lee1980" class="mim-anchor"></a>
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Lee, M. R., Morgan, D. B.
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<strong>Familial hyperkalaemia responsive to benzothiadiazine diuretic. (Letter)</strong>
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Lancet 315: 879 only, 1980. Note: Originally Volume I.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6103235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6103235</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6103235" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(80)91378-1" target="_blank">Full Text</a>]
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Licht, J. H., Amundson, D., Hsueh, W. A., Lombardo, J. V.
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<strong>Familiar hyperkalaemic acidosis.</strong>
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Quart. J. Med. 54: 161-176, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3885297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3885297</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3885297" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Limal, J. M., Rappaport, R., Dechaux, M., Riffaud, C., Morin, C.
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|
<strong>Familial dominant pseudohypoaldosteronism. (Letter)</strong>
|
|
Lancet 311: 51 only, 1978. Note: Originally Volume I.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/74536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">74536</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=74536" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(78)90404-x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Mansfield1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mansfield, T. A., Simon, D. B., Farfel, Z., Bia, M., Tucci, J. R., Lebel, M., Gutkin, M., Vialettes, B., Christofilis, M. A., Kauppinen-Makelin, R., Mayan, H., Risch, N., Lifton, R. P.
|
|
<strong>Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21.</strong>
|
|
Nature Genet. 16: 202-205, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9171836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9171836</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9171836" 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/ng0697-202" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Pasman1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Pasman, J. W., Gabreels, F. J. M., Semmekrot, B., Renier, W. O., Monnens, L. A. H.
|
|
<strong>Hyperkalemic periodic paralysis in Gordon's Syndrome: a possible defect in atrial natriuretic peptide function.</strong>
|
|
Ann. Neurol. 26: 392-395, 1989.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2529811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2529811</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2529811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410260314" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Roy1977" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
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|
Roy, C.
|
|
<strong>Familial pseudohypoaldosteronism (a series of 5 cases).</strong>
|
|
Arch. Franc. Pediat. 34: 37-54, 1977.
|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/851368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">851368</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=851368" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Sanjad1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sanjad, S. A., Mansour, F. M., Hernandez, R. H., Hill, L. L.
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|
<strong>Severe hypertension, hyperkalemia, and renal tubular acidosis responding to dietary sodium restriction.</strong>
|
|
Pediatrics 69: 317-324, 1982.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7063287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7063287</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7063287" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Schambelan1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schambelan, M., Sebastian, A., Rector, F. C., Jr.
|
|
<strong>Mineralocorticoid-resistant renal hyperkalemia without salt wasting (type II pseudohypoaldosteronism): role of increased renal chloride reabsorption.</strong>
|
|
Kidney Int. 19: 716-727, 1981.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7026872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7026872</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7026872" 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/ki.1981.72" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Spitzer1973" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Spitzer, A., Edelmann, C. M., Jr., Goldberg, L. D., Henneman, P. H.
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<strong>Short stature, hyperkalemia and acidosis: a defect in renal transport of potassium.</strong>
|
|
Kidney Int. 3: 251-257, 1973.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4792041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4792041</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4792041" 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/ki.1973.38" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Take1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Take, C., Ikeda, K., Kurasawa, T., Kurokawa, K.
|
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<strong>Increased chloride reabsorption as an inherited renal tubular defect in familial type II pseudohypoaldosteronism.</strong>
|
|
New Eng. J. Med. 324: 472-476, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1988833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1988833</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1988833" 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/10.1056/NEJM199102143240707" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Throckmorton1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Throckmorton, D. C., Bia, M. J.
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<strong>Pseudohypoaldosteronism: case report and discussion of the syndrome.</strong>
|
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Yale J. Biol. Med. 64: 247-254, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1788991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1788991</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1788991" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="20" class="mim-anchor"></a>
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<a id="Wehling1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wehling, M., Kuhnle, U., Daumer, C., Armanini, D.
|
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<strong>Inheritance of mineralocorticoid effector abnormalities of human mononuclear leucocytes in families with pseudohypoaldosteronism.</strong>
|
|
Clin. Endocr. 31: 597-605, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2627754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2627754</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2627754" 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/10.1111/j.1365-2265.1989.tb01284.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="Weinstein1974" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weinstein, S. F., Allan, D. M. E., Mendoza, S. A.
|
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<strong>Hyperkalemia, acidosis, and short stature associated with a defect in renal potassium excretion.</strong>
|
|
J. Pediat. 85: 355-358, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4431495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4431495</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4431495" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(74)80115-0" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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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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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Anne M. Stumpf - reorganized : 2/27/2012
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Ada Hamosh - updated : 2/22/2012<br>Ada Hamosh - updated : 8/14/2001<br>Victor A. McKusick - updated : 7/14/1997<br>Victor A. McKusick - updated : 6/2/1997
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Victor A. McKusick : 6/22/1988
|
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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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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 06/02/2016
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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joanna : 2/28/2012<br>alopez : 2/27/2012<br>alopez : 2/27/2012<br>terry : 2/22/2012<br>terry : 1/29/2009<br>terry : 1/21/2009<br>carol : 5/26/2005<br>alopez : 8/14/2001<br>terry : 8/14/2001<br>carol : 8/28/2000<br>alopez : 8/4/1997<br>mark : 7/16/1997<br>terry : 7/14/1997<br>alopez : 6/4/1997<br>mark : 6/2/1997<br>terry : 6/2/1997<br>mark : 8/31/1995<br>mimadm : 9/24/1994<br>pfoster : 4/20/1994<br>warfield : 4/12/1994<br>supermim : 3/16/1992<br>carol : 2/10/1992
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
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<span class="mim-font">
|
|
<strong>%</strong> 145260
|
|
</span>
|
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</h3>
|
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</div>
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<div>
|
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<h3>
|
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<span class="mim-font">
|
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|
|
PSEUDOHYPOALDOSTERONISM, TYPE IIA; PHA2A
|
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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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<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">
|
|
HYPERPOTASSEMIA AND HYPERTENSION, FAMILIAL<br />
|
|
HYPERTENSIVE HYPERKALEMIA, FAMILIAL<br />
|
|
GORDON HYPERKALEMIA-HYPERTENSION SYNDROME
|
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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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<p>
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<span class="mim-text-font">
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|
|
<strong>SNOMEDCT:</strong> 15689008, 703254001;
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<strong>ORPHA:</strong> 757, 88938;
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</span>
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</p>
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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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<p>
|
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<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 1q31-q42
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 1:185,800,001-236,400,000 </span>
|
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</em>
|
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</strong>
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</span>
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</p>
|
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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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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
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<span class="mim-font">
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1q31-q42
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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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Pseudohypoaldosteronism, type IIA
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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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145260
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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2
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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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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<span class="mim-text-font">
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<p>Pseudohypoaldosteronism type II (PHA2), also known as Gordon hyperkalemia-hypertension syndrome, is characterized by hyperkalemia despite normal renal glomerular filtration, hypertension, and correction of physiologic abnormalities by thiazide diuretics. Mild hyperchloremia, metabolic acidosis, and suppressed plasma renin (179820) activity are variable associated findings (summary by Mansfield et al., 1997). </p><p><strong><em>Genetic Heterogeneity of Pseudohypoaldosteronism Type II</em></strong></p><p>
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PHA2A has been mapped to chromosome 1q31-q42. PHA2B (614491) is caused by mutations in the WNK4 gene on chromosome 17q21 (601844). PHA2C (614492) is caused by mutations in the WNK1 gene on chromosome 12p13 (605232). PHA2D (614495) is caused by mutations in the KLHL3 gene (605775) on chromosome 5q31. PHA2E (614496) is caused by mutations in the CUL3 gene (603136) on chromosome 2q36.</p><p>Boyden et al. (2012) observed that families with PHA type II due to mutation in the WNK1 gene (PHA2C) are significantly less severely affected than those with mutation in WNK4 (PHA2B) or dominant or recessive mutation in the KLHL3 gene (PHA2D), and all are less severely affected than those with dominant mutations in the CUL3 gene (PHA2E). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Brautbar et al. (1978) described a 52-year-old man with hypertension, persistent hyperkalemia, and hyperchloremic metabolic acidosis. Four other members of the family, including the brother and son of the proband, were identically affected. Renal and adrenal functions were grossly normal. Plasma aldosterone was normal, although plasma renin activity was undetectable. Inability to increase potassium excretion when exogenous mineralocorticoid was given indicated a distal tubular defect in potassium handling. Reduction of the hyperkalemia with an ion exchange resin (polystyrene sodium sulfonate) given by mouth corrected the hyperchloremic acidosis. </p><p>Gordon et al. (1970) studied an isolated case. Male-to-male transmission was observed by Roy (1977). Limal et al. (1978) reported 7 affected persons in 3 generations with no male-to-male transmission. Lee et al. (1979) emphasized the good response to bendrofluazide. Iitaka et al. (1980) observed affected brother and sister. </p><p>Type II pseudohypoaldosteronism was the designation used by Schambelan et al. (1981) for this syndrome of chronic mineralocorticoid-resistant hyperkalemia with hypertension. Whereas the primary defect in type I PHA (see 264350 and 177735) is a specific abnormality in renal response to mineralocorticoid hormone (600983) (a receptor disorder) leading to the coexistence of salt wasting and potassium retention, the primary abnormality in type II PHA is thought to be a specific defect of the renal secretory mechanism for potassium, which limits the kaliuretic response to, but not the sodium and chloride reabsorptive effect of, mineralocorticoid. </p><p>Licht et al. (1985) reported a 3-generation family. They noted that in some cases, short stature, intellectual impairment, and dental abnormalities had been observed. </p><p>Gordon et al. (1988) described an Australian family with 6 affected members in 2 generations and referred to the condition as Gordon syndrome or hyporeninemic hypoaldosteronism. (Gordon (1995) stated that de Wardener first termed it Gordon syndrome.) Studies suggested dysregulation of atrial natriuretic factor (ANP; 108780). </p><p>Pasman et al. (1989) described a 14-year-old boy who had secondary hyperkalemic periodic paralysis caused by the Gordon syndrome. They suggested that in this disorder the kidney may lack sensitivity to ANP. After treatment with hydrochlorothiazide, serum potassium and plasma aldosterone values, plasma renin activity, and blood pressure became normal and the attacks of periodic paralysis disappeared. </p><p>Take et al. (1991) described a 50-year-old Japanese man, his 24-year-old son and 21-year-old daughter with persistent hyperkalemia, hyperchloremic metabolic acidosis, and normal glomerular function with occasional elevation of blood pressure. The results of investigations supported the existence of sodium chloride shunting as the primary abnormality, as had been suggested by Schambelan et al. (1981), who found an abnormal increase in the reabsorption of chloride by the renal tubule. </p><p>Throckmorton and Bia (1991) described an affected male who was 41 years old at the time that his disorder was first discovered. He complained of leg cramps and except for mild hypertension was otherwise found to be well. Hydrochlorothiazide controlled both his hyperkalemia and hypertension. At the other end of the age range were the infants with neonatal onset of Gordon syndrome described by Gereda et al. (1996). Two sisters developed Gordon syndrome within the first 2 weeks of life. The mother, who had been reported by Sanjad et al. (1982), also had Gordon syndrome. She had been seen at 13 years of age with severe hypertension, hyperkalemic metabolic acidosis, short stature, and pitted enamel hypoplasia of the teeth. Similar dental anomalies were observed in her father who did not have the metabolic abnormality. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Thiazide diuretics correct abnormalities in virtually all PHA type II patients (Boyden et al., 2012). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By analysis of linkage in 8 families in which PHA type II showed autosomal dominant transmission, Mansfield et al. (1997) demonstrated locus heterogeneity of the trait, with a multilocus lod score of 8.1 for linkage of the disorder to 1q31-q42 (PHA2A) and 17p11-q21 (PHA2B; 614491). Analysis of both chromosome regions together yielded a lod score of 8.1 for linkage of all families to either chromosome 1 (68% of families) or chromosome 17 (32% of families), with odds of 130 million:1 favoring linkage to 2 loci over the null hypothesis of no linkage. The lod score for linkage to only chromosome 1 with locus heterogeneity was 3.95 with 68% of the families linked including the family described by Throckmorton and Bia (1991). The lod score for linkage to only chromosome 17 with locus heterogeneity was 3.14 with 45% of families linked. The model specifying 2 linked loci had a likelihood 14,800-fold higher than the next most likely model of linkage only to chromosome 1, thus providing strong support for the 2-locus model. </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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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
|
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Lee and Morgan (1980); Spitzer et al. (1973); Wehling et al. (1989);
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Weinstein et al. (1974)
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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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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Boyden, L. M., Choi, M., Choate, K. A., Nelson-Williams, C. J., Farhi, A., Toka, H. R., Tikhonova, I. R., Bjornson, R., Mane, S. M., Colussi, G., Lebel, M., Gordon, R. D., and 34 others.
|
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<strong>Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.</strong>
|
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Nature 482: 98-102, 2012.
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[PubMed: 22266938]
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[Full Text: https://doi.org/10.1038/nature10814]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Brautbar, N., Levi, J., Rosler, A., Leitersdorf, E., Djaldetti, M., Epstein, M., Kleeman, C. R.
|
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<strong>Familial hyperkalemia, hypertension, and hyporeninemia with normal aldosterone levels: a tubular defect in potassium handling.</strong>
|
|
Arch. Intern. Med. 138: 607-610, 1978.
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[PubMed: 637641]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Gereda, J. E., Bonilla-Felix, M., Kalil, B., Dewitt, S. J.
|
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<strong>Neonatal presentation of Gordon syndrome.</strong>
|
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J. Pediat. 129: 615-617, 1996.
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[PubMed: 8859273]
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[Full Text: https://doi.org/10.1016/s0022-3476(96)70131-2]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Gordon, R. D.
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<strong>Heterogeneous hypertension.</strong>
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Nature Genet. 11: 6-9, 1995.
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[PubMed: 7550315]
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[Full Text: https://doi.org/10.1038/ng0995-6]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gordon, R. D., Geddes, R. A., Pawsey, C. G. K., O'Halloran, M. W.
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<strong>Hypertension and severe hyperkalaemia associated with suppression of renin and aldosterone and completely reversed by dietary sodium restriction.</strong>
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Australas. Ann. Med. 19: 287-294, 1970.
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[PubMed: 5490655]
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[Full Text: https://doi.org/10.1111/imj.1970.19.4.287]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gordon, R. D., Ravenscroft, P. J., Klemm, S. A., Tunny, T. J., Hamlet, S. M.
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<strong>A new Australian kindred with the syndrome of hypertension and hyperkalaemia has dysregulation of atrial natriuretic factor.</strong>
|
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J. Hypertens. Suppl. 6: S323-S326, 1988.
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[PubMed: 2977171]
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[Full Text: https://doi.org/10.1097/00004872-198812040-00100]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Iitaka, K., Watanabe, N., Asakura, A., Kasai, N., Sakai, T.
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<strong>Familial hyperkalemia, metabolic acidosis and short stature with normal renin and aldosterone levels.</strong>
|
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Int. J. Pediat. Nephrol. 1: 242-245, 1980.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lee, M. R., Ball, S. G., Thomas, T. H., Morgan, D. B.
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<strong>Hypertension and hyperkalaemia responding to bendrofluazide.</strong>
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Quart. J. Med. 48: 245-258, 1979.
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[PubMed: 504550]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Lee, M. R., Morgan, D. B.
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<strong>Familial hyperkalaemia responsive to benzothiadiazine diuretic. (Letter)</strong>
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Lancet 315: 879 only, 1980. Note: Originally Volume I.
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[PubMed: 6103235]
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[Full Text: https://doi.org/10.1016/s0140-6736(80)91378-1]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Licht, J. H., Amundson, D., Hsueh, W. A., Lombardo, J. V.
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<strong>Familiar hyperkalaemic acidosis.</strong>
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Quart. J. Med. 54: 161-176, 1985.
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[PubMed: 3885297]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Limal, J. M., Rappaport, R., Dechaux, M., Riffaud, C., Morin, C.
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<strong>Familial dominant pseudohypoaldosteronism. (Letter)</strong>
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Lancet 311: 51 only, 1978. Note: Originally Volume I.
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[PubMed: 74536]
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[Full Text: https://doi.org/10.1016/s0140-6736(78)90404-x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Mansfield, T. A., Simon, D. B., Farfel, Z., Bia, M., Tucci, J. R., Lebel, M., Gutkin, M., Vialettes, B., Christofilis, M. A., Kauppinen-Makelin, R., Mayan, H., Risch, N., Lifton, R. P.
|
|
<strong>Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21.</strong>
|
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Nature Genet. 16: 202-205, 1997.
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[PubMed: 9171836]
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[Full Text: https://doi.org/10.1038/ng0697-202]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Pasman, J. W., Gabreels, F. J. M., Semmekrot, B., Renier, W. O., Monnens, L. A. H.
|
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<strong>Hyperkalemic periodic paralysis in Gordon's Syndrome: a possible defect in atrial natriuretic peptide function.</strong>
|
|
Ann. Neurol. 26: 392-395, 1989.
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[PubMed: 2529811]
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[Full Text: https://doi.org/10.1002/ana.410260314]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Roy, C.
|
|
<strong>Familial pseudohypoaldosteronism (a series of 5 cases).</strong>
|
|
Arch. Franc. Pediat. 34: 37-54, 1977.
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[PubMed: 851368]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Sanjad, S. A., Mansour, F. M., Hernandez, R. H., Hill, L. L.
|
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<strong>Severe hypertension, hyperkalemia, and renal tubular acidosis responding to dietary sodium restriction.</strong>
|
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Pediatrics 69: 317-324, 1982.
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[PubMed: 7063287]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Schambelan, M., Sebastian, A., Rector, F. C., Jr.
|
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<strong>Mineralocorticoid-resistant renal hyperkalemia without salt wasting (type II pseudohypoaldosteronism): role of increased renal chloride reabsorption.</strong>
|
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Kidney Int. 19: 716-727, 1981.
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[PubMed: 7026872]
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[Full Text: https://doi.org/10.1038/ki.1981.72]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Spitzer, A., Edelmann, C. M., Jr., Goldberg, L. D., Henneman, P. H.
|
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<strong>Short stature, hyperkalemia and acidosis: a defect in renal transport of potassium.</strong>
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Kidney Int. 3: 251-257, 1973.
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[PubMed: 4792041]
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[Full Text: https://doi.org/10.1038/ki.1973.38]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Take, C., Ikeda, K., Kurasawa, T., Kurokawa, K.
|
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<strong>Increased chloride reabsorption as an inherited renal tubular defect in familial type II pseudohypoaldosteronism.</strong>
|
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New Eng. J. Med. 324: 472-476, 1991.
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[PubMed: 1988833]
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[Full Text: https://doi.org/10.1056/NEJM199102143240707]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Throckmorton, D. C., Bia, M. J.
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<strong>Pseudohypoaldosteronism: case report and discussion of the syndrome.</strong>
|
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Yale J. Biol. Med. 64: 247-254, 1991.
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[PubMed: 1788991]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Wehling, M., Kuhnle, U., Daumer, C., Armanini, D.
|
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<strong>Inheritance of mineralocorticoid effector abnormalities of human mononuclear leucocytes in families with pseudohypoaldosteronism.</strong>
|
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Clin. Endocr. 31: 597-605, 1989.
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[PubMed: 2627754]
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[Full Text: https://doi.org/10.1111/j.1365-2265.1989.tb01284.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Weinstein, S. F., Allan, D. M. E., Mendoza, S. A.
|
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<strong>Hyperkalemia, acidosis, and short stature associated with a defect in renal potassium excretion.</strong>
|
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J. Pediat. 85: 355-358, 1974.
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[PubMed: 4431495]
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[Full Text: https://doi.org/10.1016/s0022-3476(74)80115-0]
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</p>
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</li>
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</ol>
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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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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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Anne M. Stumpf - reorganized : 2/27/2012<br>Ada Hamosh - updated : 2/22/2012<br>Ada Hamosh - updated : 8/14/2001<br>Victor A. McKusick - updated : 7/14/1997<br>Victor A. McKusick - updated : 6/2/1997
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Victor A. McKusick : 6/22/1988
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