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Entry
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- #614491 - PSEUDOHYPOALDOSTERONISM, TYPE IIB; PHA2B
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- OMIM
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<p>
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<span class="h4">#614491</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/614491"><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="#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="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</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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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div><a href="https://clinicaltrials.gov/search?cond=PSEUDOHYPOALDOSTERONISM, TYPE IIB" 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=11871&Typ=Pat" title="Pseudohypoaldosteronism type 2B" 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.diseaseinfosearch.org/x/9186" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=614491[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=88939" title="Pseudohypoaldosteronism type 2B" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Pseudohypoaldosteronism ty…</a></div>
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</div>
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://omia.org/OMIA001759/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<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>ORPHA:</strong> 757, 88939<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, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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614491
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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 IIB; PHA2B
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</h3>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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<th>
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Gene/Locus <br /> MIM number
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<td>
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<span class="mim-font">
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<a href="/geneMap/17/592?start=-3&limit=10&highlight=592">
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17q21.2
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</a>
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</span>
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<td>
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<span class="mim-font">
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Pseudohypoaldosteronism, type IIB
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<span class="mim-font">
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<a href="/entry/614491"> 614491 </a>
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</span>
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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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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WNK4
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<span class="mim-font">
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<a href="/entry/601844"> 601844 </a>
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</span>
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</td>
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</table>
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<a href="/clinicalSynopsis/614491" 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/614491" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/614491" 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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- Hypertension <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38341003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38341003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/401-405.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">401-405.99</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/997.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">997.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<strong> METABOLIC FEATURES </strong>
|
|
</span>
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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|
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- Hyperchloremic metabolic acidosis, mild (HCO3 20.8 +/- 2.3 mM) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3280993&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3280993</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/P74.421" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">P74.421</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004918" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004918</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">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
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|
</span>
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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|
|
- Hyperkalemia (6.4 +/- 0.7 mM) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3280987&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3280987</a>]</span> <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">[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 /> -
|
|
Hyperchloremia (mean 111 mM) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74450001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74450001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E87.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E87.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085679&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085679</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011423</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011423</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>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- 15 patients from 5 kindreds reported (as of February 2012)<br /> -
|
|
Age at diagnosis 28 +/- 18 years<br /> -
|
|
Only 10% develop hypertension at 18 years of age or less<br /> -
|
|
Responsive to thiazide diuretics<br />
|
|
|
|
</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> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the WNK lysine deficient protein kinase 4 gene (WNK4, <a href="/entry/601844#0001">601844.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
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|
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</div>
|
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|
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</div>
|
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|
|
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|
|
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|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
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|
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|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
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|
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|
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|
|
<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>
|
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|
|
</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">
|
|
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<p>A number sign (#) is used with this entry because pseudohypoaldosteronism type IIB (PHA2B) is caused by heterozygous mutation in the WNK4 gene (<a href="/entry/601844">601844</a>) on chromosome 17q21.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of pseudohypoaldosteronism type II, see PHA2A (<a href="/entry/145260">145260</a>).</p>
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<p>Farfel et al. (<a href="#3" class="mim-tip-reference" title="Farfel, Z., Iaina, A., Rosenthal, T., Waks, U., Shibolet, S., Gafni, J. <strong>Familial hyperpotassemia and hypertension accompanied by normal plasma aldosterone levels: possible hereditary cell membrane defect.</strong> Arch. Intern. Med. 138: 1828-1832, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/718348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">718348</a>]" pmid="718348">1978</a>, <a href="#2" class="mim-tip-reference" title="Farfel, Z., Iaina, A., Levi, J., Gafni, J. <strong>Proximal renal tubular acidosis: association with familial normaldosteronemic hyperpotassemia and hypertension.</strong> Arch. Intern. Med. 138: 1837-1840, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/718349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">718349</a>] [<a href="https://doi.org/10.1001/archinte.138.12.1837" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="718349">1978</a>) described an Ashkenazi Jewish family in which some members had hyperkalemia (6-7 mEq/L) evident in childhood and hypertension that developed later in life. The patients had mild acidosis of the proximal renal tubular acidosis type. Chlorothiazide administration promptly corrected all features. The syndrome affected 7 members of 3 generations with instances of male-to-male transmission, thus indicating autosomal dominant inheritance. Investigations showed normal renal and adrenal function. Aldosterone concentrations were normal, but probably inappropriately low for the level of hyperkalemia. Renin was low. A low-salt diet reduced blood pressure and urinary sodium (in contrast to the salt loss that occurs in pseudohypoaldosteronism) but serum potassium did not change. Aldosterone administration caused the expected decrease in urinary sodium but no increase in urinary potassium, supporting a mechanism of resistance to aldosterone regarding potassium but not sodium transport. Infusion of insulin produced hypoglycemia but no substantial reduction in serum potassium in 3 patients studied. <a href="#2" class="mim-tip-reference" title="Farfel, Z., Iaina, A., Levi, J., Gafni, J. <strong>Proximal renal tubular acidosis: association with familial normaldosteronemic hyperpotassemia and hypertension.</strong> Arch. Intern. Med. 138: 1837-1840, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/718349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">718349</a>] [<a href="https://doi.org/10.1001/archinte.138.12.1837" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="718349">Farfel et al. (1978)</a> suggested the existence of a generalized cellular defect in transmembrane potassium transport (in which the kidneys, of course, participate) rather than an isolated renal tubular abnormality. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=718349+718348" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the family reported by <a href="#5" 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> and <a href="#6" 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.[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://doi.org/10.1016/s0140-6736(80)91378-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6103235">Lee and Morgan (1980)</a>, 2 generations were affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6103235+504550" 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 PHAII subjects (<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 linkage analysis, <a href="#7" 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 linkage of PHAII both to 1q31-q42 (PHA2A) and 17p11-q21 (PHA2B). 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 chromosome 17 locus overlapped with the syntenic segment of rat chromosome 10 that contains a blood pressure quantitative trait locus (QTL). <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>
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<p><a href="#8" class="mim-tip-reference" title="Wilson, F. H., Disse-Nicodeme, S., Choate, K. A., Ishikawa, K., Nelson-Williams, C., Desitter, I., Gunel, M., Milford, D. V., Lipkin, G. W., Achard, J.-M., Feely, M. P., Dussol, B., Berland, Y., Unwin, R. J., Mayan, H., Simon, D. B., Farfel, Z., Jeunemaitre, X., Lifton, R. P. <strong>Human hypertension caused by mutations in WNK kinases.</strong> Science 293: 1107-1112, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11498583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11498583</a>] [<a href="https://doi.org/10.1126/science.1062844" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11498583">Wilson et al. (2001)</a> identified the WNK4 gene (<a href="/entry/601844">601844</a>) between D17S250 and D17S579, within the minimum genetic interval containing the PHA2B locus. They identified 4 missense mutations in PHAII kindreds that had previously been linked to chromosome 17. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11498583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="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> studied a cohort of 52 PHAII kindreds including 126 affected subjects with renal hyperkalemia and otherwise normal renal function; hypertension and acidosis were present in 71% and 82%, respectively. The authors identified 5 kindreds with mutations in WNK4. There were 15 affected individuals diagnosed or referred at age 28 +/- 18 years with a mean potassium of 6.4 +/- 0.7; a mean bicarbonate 20.8 +/- 2.3, and only 10% had hypertension diagnosed at an age of less than or equal to 18 years. <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><p><strong><em>Exclusion Studies</em></strong></p><p>
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<a href="#7" 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> analyzed all exons of the AE1 gene (<a href="/entry/109270">109270</a>), which lies in the chromosome 17 region to which the PHA2B locus was assigned and encodes an ion exchanger, by SSCP in 15 PHAII index cases. They identified no novel variants altering the encoded protein. <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>
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<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 PHAII due to mutation in the WNK1 gene (PHA2C; <a href="/entry/614492">614492</a>) 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 mutation in the CUL3 gene (<a href="/entry/603136">603136</a>; PHA2E, <a href="/entry/614496">614496</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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<a href="#Farfel1976" class="mim-tip-reference" title="Farfel, Z., Rosenthal, T., Shibolet, S., Iaina, A., Gafni, J. <strong>Familial hyperkalemia and hypertension.</strong> Harefuah 90: 468-470, 1976.">Farfel et al. (1976)</a>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Boyden2012" class="mim-anchor"></a>
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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: <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="Farfel1978" class="mim-anchor"></a>
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Farfel, Z., Iaina, A., Levi, J., Gafni, J.
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<strong>Proximal renal tubular acidosis: association with familial normaldosteronemic hyperpotassemia and hypertension.</strong>
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Arch. Intern. Med. 138: 1837-1840, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/718349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">718349</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=718349" 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/10.1001/archinte.138.12.1837" target="_blank">Full Text</a>]
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<a id="Farfel1978" class="mim-anchor"></a>
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Farfel, Z., Iaina, A., Rosenthal, T., Waks, U., Shibolet, S., Gafni, J.
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<strong>Familial hyperpotassemia and hypertension accompanied by normal plasma aldosterone levels: possible hereditary cell membrane defect.</strong>
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Arch. Intern. Med. 138: 1828-1832, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/718348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">718348</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=718348" 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="Farfel1976" class="mim-anchor"></a>
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<p class="mim-text-font">
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Farfel, Z., Rosenthal, T., Shibolet, S., Iaina, A., Gafni, J.
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<strong>Familial hyperkalemia and hypertension.</strong>
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Harefuah 90: 468-470, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/964728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">964728</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=964728" 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="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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<a id="Mansfield1997" class="mim-anchor"></a>
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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.
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<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: <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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<a id="8" class="mim-anchor"></a>
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<a id="Wilson2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wilson, F. H., Disse-Nicodeme, S., Choate, K. A., Ishikawa, K., Nelson-Williams, C., Desitter, I., Gunel, M., Milford, D. V., Lipkin, G. W., Achard, J.-M., Feely, M. P., Dussol, B., Berland, Y., Unwin, R. J., Mayan, H., Simon, D. B., Farfel, Z., Jeunemaitre, X., Lifton, R. P.
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<strong>Human hypertension caused by mutations in WNK kinases.</strong>
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Science 293: 1107-1112, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11498583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11498583</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11498583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.1062844" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 05/14/2012
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Anne M. Stumpf : 2/23/2012
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carol : 02/12/2018
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carol : 02/09/2018<br>carol : 05/14/2012<br>alopez : 2/27/2012<br>alopez : 2/27/2012
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<strong>#</strong> 614491
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PSEUDOHYPOALDOSTERONISM, TYPE IIB; PHA2B
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<strong>ORPHA:</strong> 757, 88939;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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17q21.2
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Pseudohypoaldosteronism, type IIB
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614491
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Autosomal dominant
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<span class="mim-font">
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3
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WNK4
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<span class="mim-font">
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601844
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because pseudohypoaldosteronism type IIB (PHA2B) is caused by heterozygous mutation in the WNK4 gene (601844) on chromosome 17q21.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of pseudohypoaldosteronism type II, see PHA2A (145260).</p>
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<strong>Clinical Features</strong>
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<p>Farfel et al. (1978, 1978) described an Ashkenazi Jewish family in which some members had hyperkalemia (6-7 mEq/L) evident in childhood and hypertension that developed later in life. The patients had mild acidosis of the proximal renal tubular acidosis type. Chlorothiazide administration promptly corrected all features. The syndrome affected 7 members of 3 generations with instances of male-to-male transmission, thus indicating autosomal dominant inheritance. Investigations showed normal renal and adrenal function. Aldosterone concentrations were normal, but probably inappropriately low for the level of hyperkalemia. Renin was low. A low-salt diet reduced blood pressure and urinary sodium (in contrast to the salt loss that occurs in pseudohypoaldosteronism) but serum potassium did not change. Aldosterone administration caused the expected decrease in urinary sodium but no increase in urinary potassium, supporting a mechanism of resistance to aldosterone regarding potassium but not sodium transport. Infusion of insulin produced hypoglycemia but no substantial reduction in serum potassium in 3 patients studied. Farfel et al. (1978) suggested the existence of a generalized cellular defect in transmembrane potassium transport (in which the kidneys, of course, participate) rather than an isolated renal tubular abnormality. </p><p>In the family reported by Lee et al. (1979) and Lee and Morgan (1980), 2 generations were affected. </p>
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<strong>Clinical Management</strong>
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<p>Thiazide diuretics correct abnormalities in virtually all PHAII subjects (Boyden et al., 2012). </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<p>By linkage analysis, Mansfield et al. (1997) demonstrated linkage of PHAII both to 1q31-q42 (PHA2A) and 17p11-q21 (PHA2B). 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 chromosome 17 locus overlapped with the syntenic segment of rat chromosome 10 that contains a blood pressure quantitative trait locus (QTL). </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>Wilson et al. (2001) identified the WNK4 gene (601844) between D17S250 and D17S579, within the minimum genetic interval containing the PHA2B locus. They identified 4 missense mutations in PHAII kindreds that had previously been linked to chromosome 17. </p><p>Boyden et al. (2012) studied a cohort of 52 PHAII kindreds including 126 affected subjects with renal hyperkalemia and otherwise normal renal function; hypertension and acidosis were present in 71% and 82%, respectively. The authors identified 5 kindreds with mutations in WNK4. There were 15 affected individuals diagnosed or referred at age 28 +/- 18 years with a mean potassium of 6.4 +/- 0.7; a mean bicarbonate 20.8 +/- 2.3, and only 10% had hypertension diagnosed at an age of less than or equal to 18 years. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
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Mansfield et al. (1997) analyzed all exons of the AE1 gene (109270), which lies in the chromosome 17 region to which the PHA2B locus was assigned and encodes an ion exchanger, by SSCP in 15 PHAII index cases. They identified no novel variants altering the encoded protein. </p>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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<p>Boyden et al. (2012) observed that families with PHAII due to mutation in the WNK1 gene (PHA2C; 614492) 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 mutation in the CUL3 gene (603136; PHA2E, 614496). </p>
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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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Farfel et al. (1976)
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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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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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<li>
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<p class="mim-text-font">
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Farfel, Z., Iaina, A., Levi, J., Gafni, J.
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<strong>Proximal renal tubular acidosis: association with familial normaldosteronemic hyperpotassemia and hypertension.</strong>
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Arch. Intern. Med. 138: 1837-1840, 1978.
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[PubMed: 718349]
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[Full Text: https://doi.org/10.1001/archinte.138.12.1837]
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Farfel, Z., Iaina, A., Rosenthal, T., Waks, U., Shibolet, S., Gafni, J.
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<strong>Familial hyperpotassemia and hypertension accompanied by normal plasma aldosterone levels: possible hereditary cell membrane defect.</strong>
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Arch. Intern. Med. 138: 1828-1832, 1978.
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[PubMed: 718348]
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<li>
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<p class="mim-text-font">
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Farfel, Z., Rosenthal, T., Shibolet, S., Iaina, A., Gafni, J.
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<strong>Familial hyperkalemia and hypertension.</strong>
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Harefuah 90: 468-470, 1976.
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[PubMed: 964728]
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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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<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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<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.
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<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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<li>
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Wilson, F. H., Disse-Nicodeme, S., Choate, K. A., Ishikawa, K., Nelson-Williams, C., Desitter, I., Gunel, M., Milford, D. V., Lipkin, G. W., Achard, J.-M., Feely, M. P., Dussol, B., Berland, Y., Unwin, R. J., Mayan, H., Simon, D. B., Farfel, Z., Jeunemaitre, X., Lifton, R. P.
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<strong>Human hypertension caused by mutations in WNK kinases.</strong>
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Science 293: 1107-1112, 2001.
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[PubMed: 11498583]
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[Full Text: https://doi.org/10.1126/science.1062844]
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 05/14/2012
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