2670 lines
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2670 lines
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Entry
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- #602722 - RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS; DRTA3
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- OMIM
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<p>
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<span class="h4">#602722</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/602722"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS179800"> <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="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<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 style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS" 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=3621&Typ=Pat" title="Distal renal tubular acidosis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Distal renal tubular acido… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=22876&Typ=Pat" title="Autosomal recessive distal renal tubular acidosis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Autosomal recessive distal… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK547595/" 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/6215" 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=602722[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=18" title="Distal renal tubular acidosis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Distal renal tubular acido…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=402041" title="Autosomal recessive distal renal tubular acidosis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Autosomal recessive distal…</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:14219" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/602722" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:14219" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 18, 402041<br />
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<strong>DO:</strong> 14219<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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602722
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</span>
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</span>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS; DRTA3
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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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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<h4>
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<span class="mim-font">
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RTADR
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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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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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<a href="/geneMap/7/727?start=-3&limit=10&highlight=727">
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7q34
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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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Distal renal tubular acidosis 3, with or without sensorineural hearing loss
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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/602722"> 602722 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</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">
|
|
ATP6V0A4
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605239"> 605239 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
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</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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|
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<div>
|
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|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/602722" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
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|
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|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS179800" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
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|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/602722" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/602722" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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|
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
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|
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|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
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|
|
</div>
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|
|
</div>
|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Normal hearing <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/162339002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">162339002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234725&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234725</a>]</span><br /> -
|
|
Sensorineural hearing loss, mild-severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5435878&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5435878</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Nephrocalcinosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48638002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48638002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027709&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027709</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000121" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000121</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000121" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000121</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Rickets <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41345002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41345002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E55.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035579&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035579</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002748" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002748</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002748" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002748</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> METABOLIC FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Primary distal renal tubular acidosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5435624&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5435624</a>]</span><br /> -
|
|
Hyperchloremic hypokalemic metabolic acidosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5435722&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5435722</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hypokalemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166690008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166690008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43339004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43339004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E87.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E87.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/276.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">276.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020621&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020621</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002900" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002900</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002900" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002900</a>]</span><br /> -
|
|
Urine pH >6.5 <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5435720&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5435720</a>]</span><br /> -
|
|
Hypercalciuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71938000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71938000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R82.994" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R82.994</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020438&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020438</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002150" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002150</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002150" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002150</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Age at renal tubular acidosis diagnosis - birth to 4 years (majority <1 year)<br /> -
|
|
Age at hearing loss diagnosis - infancy to early adulthood<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<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 ATPase, H+ transporting, V0 subunit A4 gene (ATP6V0A4, <a href="/entry/605239#0001">605239.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<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>
|
|
Distal renal tubular acidosis
|
|
- <a href="/phenotypicSeries/PS179800">PS179800</a>
|
|
- 4 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">
|
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<strong>Phenotype<br />mapping key</strong>
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<strong>Phenotype<br />MIM number</strong>
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<strong>Gene/Locus</strong>
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<strong>Gene/Locus<br />MIM number</strong>
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<span class="mim-font">
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<a href="/geneMap/2/343?start=-3&limit=10&highlight=343"> 2p13.3 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/267300"> Distal renal tubular acidosis 2 with progressive sensorineural hearing loss </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/267300"> 267300 </a>
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<span class="mim-font">
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<a href="/entry/192132"> ATP6V1B1 </a>
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<span class="mim-font">
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<a href="/entry/192132"> 192132 </a>
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<span class="mim-font">
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<a href="/geneMap/7/727?start=-3&limit=10&highlight=727"> 7q34 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/602722"> Distal renal tubular acidosis 3, with or without sensorineural hearing loss </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/602722"> 602722 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/605239"> ATP6V0A4 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/605239"> 605239 </a>
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</span>
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<span class="mim-font">
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<a href="/geneMap/17/635?start=-3&limit=10&highlight=635"> 17q21.31 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/611590"> Distal renal tubular acidosis 4 with hemolytic anemia </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/611590"> 611590 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/109270"> SLC4A1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/109270"> 109270 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/17/635?start=-3&limit=10&highlight=635"> 17q21.31 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/179800"> Distal renal tubular acidosis 1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/179800"> 179800 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/109270"> SLC4A1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/109270"> 109270 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive distal renal tubular acidosis-3 with or without sensorineural hearing loss (DRTA3) is caused by homozygous mutation in the ATP6N1B gene (ATP6V0A4; <a href="/entry/605239">605239</a>) on chromosome 7q34.</p>
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<p>The maintenance of body fluid pH within a narrow range is critical for a wide variety of essential biochemical and metabolic functions. The kidney plays a key role in this homeostasis under normal circumstances, owing to its ability to vary bicarbonate reclamation and net acid excretion over a wide range. In the renal tubular acidoses (RTAs), however, acid-base balance becomes deranged either because of inability to secrete acid in the distal nephron or because of proximal bicarbonate loss (<a href="/entry/267200">267200</a>). Primary distal RTA is characterized by the failure of the kidney to produce an appropriately acid urine in the presence of systemic metabolic acidosis or after acid loading, due to failure of hydrogen ion secretion or bicarbonate reabsorption in the distal nephron. This results in hyperchloremic metabolic acidosis of varying severity. The condition is usually accompanied by nephrocalcinosis or nephrolithiasis. Other findings include hypokalemia and normal serum calcium and phosphate levels, although osteomalacia or rickets may supervene in untreated cases. Alkali replacement serves to reverse most of the biochemical abnormalities. Both autosomal dominant (see <a href="/entry/179800">179800</a>) and autosomal recessive patterns have been observed in kindreds with primary distal RTA, and the spectrum of clinical severity is wide. Some patients with autosomal dominant distal RTA remain asymptomatic until adolescence or adulthood, whereas others, and those with recessive disease, may be severely affected in infancy, with impaired growth and early nephrocalcinosis causing eventual renal insufficiency.</p><p><a href="#4" class="mim-tip-reference" title="Seedat, Y. K. <strong>Some observations of renal tubular acidosis--a family study.</strong> S. Afr. Med. J. 38: 606-610, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14194734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14194734</a>]" pmid="14194734">Seedat (1964)</a> reported a family with 8 affected members in 4 generations. The proband was born of first-cousin parents. In another first-cousin marriage, 4 of his half sibs were affected. <a href="#3" class="mim-tip-reference" title="Kuhlencordt, F., Lenz, W., Seeman, N., Zukschwerdt, L. <strong>Renal tubular acidosis and bilateral nephrocalcinosis in uniovular twins.</strong> German Med. Monthly 12: 565-570, 1967."None>Kuhlencordt et al. (1967)</a> observed affected monozygotic twins whose parents were first cousins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14194734" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Karet, F. E., Gainza, F. J., Gyory, A. Z., Unwin, R. J., Wrong, O., Tanner, M. J. A., Nayir, A., Alpay, H., Santos, F., Hulton, S. A., Bakkaloglu, A., Ozen, S., Cunningham, M. J., di Pietro, A., Walker, W. G., Lifton, R. P. <strong>Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.</strong> Proc. Nat. Acad. Sci. 95: 6337-6342, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9600966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9600966</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9600966[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.95.11.6337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9600966">Karet et al. (1998)</a> assembled information on 26 kindreds with primary distal RTA. Autosomal recessive inheritance was found in at least 17 kindreds; affected individuals were offspring of consanguineous unions in 14 of these families and there were 2 or more affected sibs of unaffected parents in the other 3. Among the recessive kindreds, 19 of the 25 patients were diagnosed at 1 year of age or less, and the remainder presented at 6 years or younger. All index cases presented either acutely with vomiting and dehydration, or with failure to thrive, or delayed growth. Younger affected sibs were often diagnosed prospectively. All patients with recessive disease were found to have nephrocalcinosis, nephrolithiasis, or both, and several had rickets. Nine of these patients from 6 families also had bilateral sensorineural deafness confirmed by audiometry. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9600966" 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="#7" class="mim-tip-reference" title="Vargas-Poussou, R., Houillier, P., Le Pottier, N., Stompf, L., Loirat, C., Baudouin, V., Macher, M.-A., Dechaux, M., Ulinski, T., Nobili, F., Eckart, P., Novo, R., and 15 others. <strong>Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.</strong> J. Am. Soc. Nephrol. 17: 1437-1443, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16611712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16611712</a>] [<a href="https://doi.org/10.1681/ASN.2005121305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16611712">Vargas-Poussou et al. (2006)</a> found that 9 of 23 patients with DRTA3 had sensorineural hearing loss. Age at onset was unknown in 2 patients; in the other 7 patients, hearing loss was detected between the ages of 2 months and 10 years. Only 1 of 2 affected sibs in family 10 had hearing loss, indicating that intrafamilial variability of hearing loss can occur. Additionally, 12 of the patients were younger than 10 years and could yet develop hearing loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16611712" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
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<a id="mapping" class="mim-anchor"></a>
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<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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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<div id="mimMappingFold" class="collapse in mimTextToggleFold">
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<p><a href="#1" class="mim-tip-reference" title="Karet, F. E., Finberg, K. E., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S. A., Sanjad, S. A., Al-Sabban, E. A., Medina, J. F., Lifton, R. P. <strong>Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34.</strong> Am. J. Hum. Genet. 65: 1656-1665, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10577919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10577919</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10577919[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/302679" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10577919">Karet et al. (1999)</a> performed genomewide linkage analysis in 13 kindreds with recessive dRTA and found evidence for linkage with locus heterogeneity to a segment of 7q33-q34; a maximum multipoint lod score of 8.84 with this region was obtained with 68% of kindreds linked. That 4 of these 13 kindreds did not support linkage to 7q33-q34 or to chromosome 2 (see dRTA with progressive nerve deafness, <a href="/entry/267300">267300</a>) implied the existence of at least 1 additional distal RTA locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10577919" 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 id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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</h4>
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<p>In 8 of 9 renal tubular acidosis kindreds with normal audiometry linked to the ATP6N1B locus, <a href="#5" class="mim-tip-reference" title="Smith, A. N., Skaug, J., Choate, K. A., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S. A., Sanjad, S. A., Al-Sabban, E. A., Lifton, R. P., Scherer, S. W., Karet, F. E. <strong>Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.</strong> Nature Genet. 26: 71-75, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973252</a>] [<a href="https://doi.org/10.1038/79208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973252">Smith et al. (2000)</a> identified homozygous mutations in the ATP6N1B gene (<a href="/entry/605239#0001">605239.0001</a>-<a href="/entry/605239#0008">605239.0008</a>). These included nonsense, deletion, and splice site changes, all of which were predicted to truncate the protein. The findings identified a new kidney-specific proton pump 116-kD accessory subunit that is highly expressed in proton-secreting cells in the distal nephron, and illustrated its essential role in normal vectorial acid transport into the urine by the kidney. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973252" 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 12 new kindreds with autosomal recessive dRTA and 11 sporadic cases, <a href="#6" class="mim-tip-reference" title="Stover, E. H., Borthwick, K. J., Bavalia, C., Eady, N., Fritz, D. M., Rungroj, N., Giersch, A. B. S., Morton, C. C., Axon, P. R., Akil, I., Al-Sabban, E. A., Baguley, D. M., and 20 others. <strong>Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.</strong> J. Med. Genet. 39: 796-803, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12414817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12414817</a>] [<a href="https://doi.org/10.1136/jmg.39.11.796" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12414817">Stover et al. (2002)</a> identified 19 ATP6V0A4 mutations in 23 patients. Several of these patients, including 1 with a previously identified splice site mutation (<a href="/entry/605239#0003">605239.0003</a>) and 2 with missense mutations (<a href="/entry/605239#0009">605239.0009</a>-<a href="/entry/605239#0010">605239.0010</a>), were found to have developed later onset of hearing loss than occurs in dRTA families with progressive sensorineural hearing loss and mutation in the ATP6V1B1 gene (<a href="/entry/192132">192132</a>). Review of a previously studied ATP6V0A4 cohort revealed 1 patient who had developed mild sensorineural hearing loss at the age of 22 years. <a href="#6" class="mim-tip-reference" title="Stover, E. H., Borthwick, K. J., Bavalia, C., Eady, N., Fritz, D. M., Rungroj, N., Giersch, A. B. S., Morton, C. C., Axon, P. R., Akil, I., Al-Sabban, E. A., Baguley, D. M., and 20 others. <strong>Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.</strong> J. Med. Genet. 39: 796-803, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12414817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12414817</a>] [<a href="https://doi.org/10.1136/jmg.39.11.796" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12414817">Stover et al. (2002)</a> also found ATP6V0A4 expression within the cochlea of both fetal and adult tissue specimens. Another 4 dRTA families (2 with normal audiometry, 1 with sensorineural hearing loss, and 1 of unknown hearing status) were not linked to ATP6V0A4 or ATP6V1B1, providing further evidence for additional genetic heterogeneity in dRTA. The discovery of late-onset sensorineural hearing loss in some cases of autosomal recessive dRTA, as well as the demonstration that ATP6V0A4 is expressed within the cochlea, suggested that RTA with or without sensorineural hearing loss is the same disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12414817" 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="#7" class="mim-tip-reference" title="Vargas-Poussou, R., Houillier, P., Le Pottier, N., Stompf, L., Loirat, C., Baudouin, V., Macher, M.-A., Dechaux, M., Ulinski, T., Nobili, F., Eckart, P., Novo, R., and 15 others. <strong>Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.</strong> J. Am. Soc. Nephrol. 17: 1437-1443, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16611712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16611712</a>] [<a href="https://doi.org/10.1681/ASN.2005121305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16611712">Vargas-Poussou et al. (2006)</a> screened 39 new kindreds with recessive dRTA for mutations in the ATP6V0A4 and ATP6V1B1 genes. Fourteen new and 5 recurrent mutations in the ATP6V0A4 gene were identified in 21 families. Two new and 2 recurrent mutations were detected in the ATP6V1B1 gene in 10 families. No mutation was detected in 8 families. Loss-of-function mutations were found in a total of 31 families, with a global detection rate of 79.5%. Mutations in the ATP6V0A4 gene were twice as frequent as mutations in the ATP6V1B1 gene. The authors noted that this finding conflicts with previous studies, in which mutations in the ATP6V1B1 gene were more frequent than mutations in the ATP6V0A4 gene. <a href="#7" class="mim-tip-reference" title="Vargas-Poussou, R., Houillier, P., Le Pottier, N., Stompf, L., Loirat, C., Baudouin, V., Macher, M.-A., Dechaux, M., Ulinski, T., Nobili, F., Eckart, P., Novo, R., and 15 others. <strong>Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.</strong> J. Am. Soc. Nephrol. 17: 1437-1443, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16611712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16611712</a>] [<a href="https://doi.org/10.1681/ASN.2005121305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16611712">Vargas-Poussou et al. (2006)</a> found early-onset hearing loss in 70% of patients with ATP6V1B1 mutations and 39% of patients with ATP6V0A4 mutations (see, e.g., <a href="/entry/605239#0011">605239.0011</a>). The authors concluded that a genetic screening strategy based on early-onset hearing loss would be misleading and is not recommended. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16611712" 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="#2" class="mim-tip-reference" title="Karet, F. E., Gainza, F. J., Gyory, A. Z., Unwin, R. J., Wrong, O., Tanner, M. J. A., Nayir, A., Alpay, H., Santos, F., Hulton, S. A., Bakkaloglu, A., Ozen, S., Cunningham, M. J., di Pietro, A., Walker, W. G., Lifton, R. P. <strong>Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.</strong> Proc. Nat. Acad. Sci. 95: 6337-6342, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9600966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9600966</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9600966[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.95.11.6337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9600966">Karet et al. (1998)</a> analyzed the SLC4A2 gene (<a href="/entry/109280">109280</a>) in 17 families with autosomal recessive distal RTA but found no mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9600966" 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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<strong>REFERENCES</strong>
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Karet, F. E., Finberg, K. E., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S. A., Sanjad, S. A., Al-Sabban, E. A., Medina, J. F., Lifton, R. P.
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<strong>Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34.</strong>
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Am. J. Hum. Genet. 65: 1656-1665, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10577919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10577919</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10577919[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=10577919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/302679" target="_blank">Full Text</a>]
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Karet, F. E., Gainza, F. J., Gyory, A. Z., Unwin, R. J., Wrong, O., Tanner, M. J. A., Nayir, A., Alpay, H., Santos, F., Hulton, S. A., Bakkaloglu, A., Ozen, S., Cunningham, M. J., di Pietro, A., Walker, W. G., Lifton, R. P.
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<strong>Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.</strong>
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Proc. Nat. Acad. Sci. 95: 6337-6342, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9600966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9600966</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9600966[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=9600966" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.95.11.6337" target="_blank">Full Text</a>]
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Kuhlencordt, F., Lenz, W., Seeman, N., Zukschwerdt, L.
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<strong>Renal tubular acidosis and bilateral nephrocalcinosis in uniovular twins.</strong>
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German Med. Monthly 12: 565-570, 1967.
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Seedat, Y. K.
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<strong>Some observations of renal tubular acidosis--a family study.</strong>
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S. Afr. Med. J. 38: 606-610, 1964.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14194734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14194734</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14194734" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Smith, A. N., Skaug, J., Choate, K. A., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S. A., Sanjad, S. A., Al-Sabban, E. A., Lifton, R. P., Scherer, S. W., Karet, F. E.
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<strong>Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.</strong>
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Nature Genet. 26: 71-75, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973252</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973252" 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/10.1038/79208" target="_blank">Full Text</a>]
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Stover, E. H., Borthwick, K. J., Bavalia, C., Eady, N., Fritz, D. M., Rungroj, N., Giersch, A. B. S., Morton, C. C., Axon, P. R., Akil, I., Al-Sabban, E. A., Baguley, D. M., and 20 others.
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<strong>Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.</strong>
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J. Med. Genet. 39: 796-803, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12414817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12414817</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12414817" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Vargas-Poussou, R., Houillier, P., Le Pottier, N., Stompf, L., Loirat, C., Baudouin, V., Macher, M.-A., Dechaux, M., Ulinski, T., Nobili, F., Eckart, P., Novo, R., and 15 others.
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<strong>Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.</strong>
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J. Am. Soc. Nephrol. 17: 1437-1443, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16611712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16611712</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16611712" 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/10.1681/ASN.2005121305" target="_blank">Full Text</a>]
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Kelly A. Przylepa - updated : 08/27/2020
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Marla J. F. O'Neill - updated : 11/8/2007<br>Marla J. F. O'Neill - updated : 2/9/2005<br>Marla J. F. O'Neill - updated : 2/5/2004<br>Victor A. McKusick - updated : 8/28/2000<br>Victor A. McKusick - updated : 12/17/1999
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carol : 08/29/2020<br>carol : 08/28/2020<br>carol : 08/27/2020<br>carol : 10/02/2017<br>carol : 05/13/2014<br>carol : 11/8/2007<br>carol : 7/26/2005<br>terry : 2/9/2005<br>carol : 5/25/2004<br>tkritzer : 5/25/2004<br>carol : 2/5/2004<br>carol : 2/2/2004<br>alopez : 5/11/2001<br>alopez : 8/29/2000<br>terry : 8/28/2000<br>mgross : 12/29/1999<br>mgross : 12/29/1999<br>mgross : 12/28/1999<br>terry : 12/17/1999<br>carol : 6/16/1998
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<strong>#</strong> 602722
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RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS; DRTA3
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<em>Alternative titles; symbols</em>
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RTADR
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<strong>ORPHA:</strong> 18, 402041;
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<strong>DO:</strong> 14219;
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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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7q34
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Distal renal tubular acidosis 3, with or without sensorineural hearing loss
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602722
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Autosomal recessive
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3
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ATP6V0A4
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605239
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive distal renal tubular acidosis-3 with or without sensorineural hearing loss (DRTA3) is caused by homozygous mutation in the ATP6N1B gene (ATP6V0A4; 605239) on chromosome 7q34.</p>
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<strong>Clinical Features</strong>
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<p>The maintenance of body fluid pH within a narrow range is critical for a wide variety of essential biochemical and metabolic functions. The kidney plays a key role in this homeostasis under normal circumstances, owing to its ability to vary bicarbonate reclamation and net acid excretion over a wide range. In the renal tubular acidoses (RTAs), however, acid-base balance becomes deranged either because of inability to secrete acid in the distal nephron or because of proximal bicarbonate loss (267200). Primary distal RTA is characterized by the failure of the kidney to produce an appropriately acid urine in the presence of systemic metabolic acidosis or after acid loading, due to failure of hydrogen ion secretion or bicarbonate reabsorption in the distal nephron. This results in hyperchloremic metabolic acidosis of varying severity. The condition is usually accompanied by nephrocalcinosis or nephrolithiasis. Other findings include hypokalemia and normal serum calcium and phosphate levels, although osteomalacia or rickets may supervene in untreated cases. Alkali replacement serves to reverse most of the biochemical abnormalities. Both autosomal dominant (see 179800) and autosomal recessive patterns have been observed in kindreds with primary distal RTA, and the spectrum of clinical severity is wide. Some patients with autosomal dominant distal RTA remain asymptomatic until adolescence or adulthood, whereas others, and those with recessive disease, may be severely affected in infancy, with impaired growth and early nephrocalcinosis causing eventual renal insufficiency.</p><p>Seedat (1964) reported a family with 8 affected members in 4 generations. The proband was born of first-cousin parents. In another first-cousin marriage, 4 of his half sibs were affected. Kuhlencordt et al. (1967) observed affected monozygotic twins whose parents were first cousins. </p><p>Karet et al. (1998) assembled information on 26 kindreds with primary distal RTA. Autosomal recessive inheritance was found in at least 17 kindreds; affected individuals were offspring of consanguineous unions in 14 of these families and there were 2 or more affected sibs of unaffected parents in the other 3. Among the recessive kindreds, 19 of the 25 patients were diagnosed at 1 year of age or less, and the remainder presented at 6 years or younger. All index cases presented either acutely with vomiting and dehydration, or with failure to thrive, or delayed growth. Younger affected sibs were often diagnosed prospectively. All patients with recessive disease were found to have nephrocalcinosis, nephrolithiasis, or both, and several had rickets. Nine of these patients from 6 families also had bilateral sensorineural deafness confirmed by audiometry. </p><p>Vargas-Poussou et al. (2006) found that 9 of 23 patients with DRTA3 had sensorineural hearing loss. Age at onset was unknown in 2 patients; in the other 7 patients, hearing loss was detected between the ages of 2 months and 10 years. Only 1 of 2 affected sibs in family 10 had hearing loss, indicating that intrafamilial variability of hearing loss can occur. Additionally, 12 of the patients were younger than 10 years and could yet develop hearing loss. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<p>Karet et al. (1999) performed genomewide linkage analysis in 13 kindreds with recessive dRTA and found evidence for linkage with locus heterogeneity to a segment of 7q33-q34; a maximum multipoint lod score of 8.84 with this region was obtained with 68% of kindreds linked. That 4 of these 13 kindreds did not support linkage to 7q33-q34 or to chromosome 2 (see dRTA with progressive nerve deafness, 267300) implied the existence of at least 1 additional distal RTA locus. </p>
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<h4>
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<strong>Molecular Genetics</strong>
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<p>In 8 of 9 renal tubular acidosis kindreds with normal audiometry linked to the ATP6N1B locus, Smith et al. (2000) identified homozygous mutations in the ATP6N1B gene (605239.0001-605239.0008). These included nonsense, deletion, and splice site changes, all of which were predicted to truncate the protein. The findings identified a new kidney-specific proton pump 116-kD accessory subunit that is highly expressed in proton-secreting cells in the distal nephron, and illustrated its essential role in normal vectorial acid transport into the urine by the kidney. </p><p>In 12 new kindreds with autosomal recessive dRTA and 11 sporadic cases, Stover et al. (2002) identified 19 ATP6V0A4 mutations in 23 patients. Several of these patients, including 1 with a previously identified splice site mutation (605239.0003) and 2 with missense mutations (605239.0009-605239.0010), were found to have developed later onset of hearing loss than occurs in dRTA families with progressive sensorineural hearing loss and mutation in the ATP6V1B1 gene (192132). Review of a previously studied ATP6V0A4 cohort revealed 1 patient who had developed mild sensorineural hearing loss at the age of 22 years. Stover et al. (2002) also found ATP6V0A4 expression within the cochlea of both fetal and adult tissue specimens. Another 4 dRTA families (2 with normal audiometry, 1 with sensorineural hearing loss, and 1 of unknown hearing status) were not linked to ATP6V0A4 or ATP6V1B1, providing further evidence for additional genetic heterogeneity in dRTA. The discovery of late-onset sensorineural hearing loss in some cases of autosomal recessive dRTA, as well as the demonstration that ATP6V0A4 is expressed within the cochlea, suggested that RTA with or without sensorineural hearing loss is the same disorder. </p><p>Vargas-Poussou et al. (2006) screened 39 new kindreds with recessive dRTA for mutations in the ATP6V0A4 and ATP6V1B1 genes. Fourteen new and 5 recurrent mutations in the ATP6V0A4 gene were identified in 21 families. Two new and 2 recurrent mutations were detected in the ATP6V1B1 gene in 10 families. No mutation was detected in 8 families. Loss-of-function mutations were found in a total of 31 families, with a global detection rate of 79.5%. Mutations in the ATP6V0A4 gene were twice as frequent as mutations in the ATP6V1B1 gene. The authors noted that this finding conflicts with previous studies, in which mutations in the ATP6V1B1 gene were more frequent than mutations in the ATP6V0A4 gene. Vargas-Poussou et al. (2006) found early-onset hearing loss in 70% of patients with ATP6V1B1 mutations and 39% of patients with ATP6V0A4 mutations (see, e.g., 605239.0011). The authors concluded that a genetic screening strategy based on early-onset hearing loss would be misleading and is not recommended. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
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Karet et al. (1998) analyzed the SLC4A2 gene (109280) in 17 families with autosomal recessive distal RTA but found no mutations. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<ol>
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Karet, F. E., Finberg, K. E., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S. A., Sanjad, S. A., Al-Sabban, E. A., Medina, J. F., Lifton, R. P.
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<strong>Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34.</strong>
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Am. J. Hum. Genet. 65: 1656-1665, 1999.
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[PubMed: 10577919]
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[Full Text: https://doi.org/10.1086/302679]
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Karet, F. E., Gainza, F. J., Gyory, A. Z., Unwin, R. J., Wrong, O., Tanner, M. J. A., Nayir, A., Alpay, H., Santos, F., Hulton, S. A., Bakkaloglu, A., Ozen, S., Cunningham, M. J., di Pietro, A., Walker, W. G., Lifton, R. P.
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<strong>Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.</strong>
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Proc. Nat. Acad. Sci. 95: 6337-6342, 1998.
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[PubMed: 9600966]
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[Full Text: https://doi.org/10.1073/pnas.95.11.6337]
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Kuhlencordt, F., Lenz, W., Seeman, N., Zukschwerdt, L.
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<strong>Renal tubular acidosis and bilateral nephrocalcinosis in uniovular twins.</strong>
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German Med. Monthly 12: 565-570, 1967.
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<p class="mim-text-font">
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Seedat, Y. K.
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<strong>Some observations of renal tubular acidosis--a family study.</strong>
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S. Afr. Med. J. 38: 606-610, 1964.
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[PubMed: 14194734]
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Smith, A. N., Skaug, J., Choate, K. A., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S. A., Sanjad, S. A., Al-Sabban, E. A., Lifton, R. P., Scherer, S. W., Karet, F. E.
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<strong>Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.</strong>
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Nature Genet. 26: 71-75, 2000.
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[PubMed: 10973252]
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[Full Text: https://doi.org/10.1038/79208]
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Stover, E. H., Borthwick, K. J., Bavalia, C., Eady, N., Fritz, D. M., Rungroj, N., Giersch, A. B. S., Morton, C. C., Axon, P. R., Akil, I., Al-Sabban, E. A., Baguley, D. M., and 20 others.
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<strong>Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.</strong>
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J. Med. Genet. 39: 796-803, 2002.
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[PubMed: 12414817]
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[Full Text: https://doi.org/10.1136/jmg.39.11.796]
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Vargas-Poussou, R., Houillier, P., Le Pottier, N., Stompf, L., Loirat, C., Baudouin, V., Macher, M.-A., Dechaux, M., Ulinski, T., Nobili, F., Eckart, P., Novo, R., and 15 others.
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<strong>Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.</strong>
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J. Am. Soc. Nephrol. 17: 1437-1443, 2006.
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[PubMed: 16611712]
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[Full Text: https://doi.org/10.1681/ASN.2005121305]
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Contributors:
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<span class="mim-text-font">
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Kelly A. Przylepa - updated : 08/27/2020<br>Marla J. F. O'Neill - updated : 11/8/2007<br>Marla J. F. O'Neill - updated : 2/9/2005<br>Marla J. F. O'Neill - updated : 2/5/2004<br>Victor A. McKusick - updated : 8/28/2000<br>Victor A. McKusick - updated : 12/17/1999
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Creation Date:
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Victor A. McKusick : 6/16/1998
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Edit History:
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carol : 04/08/2021<br>carol : 08/29/2020<br>carol : 08/28/2020<br>carol : 08/27/2020<br>carol : 10/02/2017<br>carol : 05/13/2014<br>carol : 11/8/2007<br>carol : 7/26/2005<br>terry : 2/9/2005<br>carol : 5/25/2004<br>tkritzer : 5/25/2004<br>carol : 2/5/2004<br>carol : 2/2/2004<br>alopez : 5/11/2001<br>alopez : 8/29/2000<br>terry : 8/28/2000<br>mgross : 12/29/1999<br>mgross : 12/29/1999<br>mgross : 12/28/1999<br>terry : 12/17/1999<br>carol : 6/16/1998
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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