2745 lines
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Entry
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- #203780 - ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE; ATS2
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- OMIM
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<span class="h4">#203780</span>
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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/203780"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS301050"> <strong>Phenotypic Series</strong> </a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#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=ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE" 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=630&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Alport syndrome </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11851&Typ=Pat" title="Autosomal recessive Alport syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Autosomal recessive Alport… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1207/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=203780[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=63" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Alport syndrome</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=88919" title="Autosomal recessive Alport syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Autosomal recessive Alport…</a></div>
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</div>
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</div>
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<span class="small">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</a>
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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:0110033" 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/203780" 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://omia.org/OMIA002618/" 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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<div><a href="https://wormbase.org/resources/disease/DOID:0110033" 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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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 63, 88919<br />
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<strong>DO:</strong> 0110033<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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203780
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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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ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE; ATS2
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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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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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<a href="/geneMap/2/1070?start=-3&limit=10&highlight=1070">
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2q36.3
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</td>
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<span class="mim-font">
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Alport syndrome 2, autosomal recessive
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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/203780"> 203780 </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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<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 class="mim-font">
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COL4A4
|
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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/120131"> 120131 </a>
|
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</span>
|
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</td>
|
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group mim-changed mim-change">
|
|
<a href="/clinicalSynopsis/203780" 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>
|
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
|
</div>
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<div class="btn-group">
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|
|
<a href="/phenotypicSeries/PS301050" class="btn btn-info" role="button"> Phenotypic Series </a>
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|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
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<span class="sr-only">Toggle Dropdown</span>
|
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</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>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/203780" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/203780" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
|
</div>
|
|
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|
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<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 />
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|
|
</span>
|
|
</div>
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|
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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> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
<div class="mim-changed mim-change"> - Hearing loss, sensorineural <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">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018784</a> 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> <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 /></div>
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
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|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
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|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypertension <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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
|
<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">
|
|
|
|
- Glomerulonephropathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197679002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197679002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N00-N08" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N00-N08</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N05" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N05</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0268731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100820" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100820</a>]</span><br />
|
|
- End-stage renal failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90688005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90688005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46177005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46177005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/433146000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">433146000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/585.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">585.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022661&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022661</a>, <a href="https://bioportal.bioontology.org/search?q=C2316810&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2316810</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003774</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003774</a>]</span><br />
|
|
<div class="mim-changed mim-change"> - Nephrotic syndrome <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52254009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52254009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">581</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027726&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027726</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000100</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000100</a>]</span><br /></div>
|
|
<div class="mim-changed mim-change"> - Echogenic kidneys (renal ultrasound) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3275899&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3275899</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004719</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004719</a>]</span><br /></div>
|
|
<div class="mim-changed mim-change"> - Thinning and thickening of the glomerular basement membrane<br /></div>
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
<div class="mim-changed mim-change"> - Hematuria (gross and microscopic) Proteinuria<br /></div>
|
|
|
|
</span>
|
|
</div>
|
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|
|
</div>
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|
|
|
</div>
|
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|
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|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
<div class="mim-changed mim-change"> - Microscopic hematuria with normal renal function present in older heterozygous carriers (141200)<br /></div>
|
|
|
|
</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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|
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|
|
<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 collagen, type IV, alpha-4 gene (COL4A4, <a href="/entry/120131#0001">120131.0001</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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|
|
<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>
|
|
Alport syndrome
|
|
- <a href="/phenotypicSeries/PS301050">PS301050</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">
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<strong>Phenotype</strong>
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<strong>Inheritance</strong>
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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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<a href="/geneMap/2/1070?start=-3&limit=10&highlight=1070"> 2q36.3 </a>
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<span class="mim-font">
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<a href="/entry/203780"> Alport syndrome 2, autosomal recessive </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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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<a href="/entry/203780"> 203780 </a>
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<span class="mim-font">
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<a href="/entry/120131"> COL4A4 </a>
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<a href="/entry/120131"> 120131 </a>
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<a href="/geneMap/2/1071?start=-3&limit=10&highlight=1071"> 2q36.3 </a>
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<span class="mim-font">
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<a href="/entry/620536"> Alport syndrome 3B, autosomal recessive </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/620536"> 620536 </a>
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<span class="mim-font">
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<a href="/entry/120070"> COL4A3 </a>
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<span class="mim-font">
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<a href="/entry/120070"> 120070 </a>
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<a href="/geneMap/2/1071?start=-3&limit=10&highlight=1071"> 2q36.3 </a>
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<span class="mim-font">
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<a href="/entry/104200"> Alport syndrome 3A, autosomal dominant </a>
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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 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/104200"> 104200 </a>
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<span class="mim-font">
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<a href="/entry/120070"> COL4A3 </a>
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<span class="mim-font">
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<a href="/entry/120070"> 120070 </a>
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<a href="/geneMap/X/560?start=-3&limit=10&highlight=560"> Xq22.3 </a>
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<span class="mim-font">
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<a href="/entry/301050"> Alport syndrome 1, X-linked </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="X-linked dominant">XLD</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/301050"> 301050 </a>
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<a href="/entry/303630"> COL4A5 </a>
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<span class="mim-font">
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<a href="/entry/303630"> 303630 </a>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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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 Alport syndrome-2 (ATS2) is caused by homozygous or compound heterozygous mutation in the COL4A4 gene (<a href="/entry/120131">120131</a>) on chromosome 2q36.</p><p>Another form of autosomal recessive Alport syndrome (ATS3B; <a href="/entry/620536">620536</a>) results from homozygous or compound heterozygous mutation in the COL4A3 gene (<a href="/entry/120070">120070</a>) on chromosome 2q36.</p>
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<strong>Description</strong>
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<p>Autosomal recessive Alport syndrome-2 (ATS2) is a hereditary disorder of the basement membrane, resulting in a glomerulonephropathy causing renal failure. Progressive deafness and ocular anomalies may also occur (<a href="#7" class="mim-tip-reference" title="Mochizuki, T., Lemmink, H. H., Mariyama, M., Antignac, C., Gubler, M.-C., Pirson, Y., Verellen-Dumoulin, C., Chan, B., Schroder, C. H., Smeets, H. J., Reeders, S. T. <strong>Identification of mutations in the alpha-3(IV) and alpha-4(IV) collagen genes in autosomal recessive Alport syndrome.</strong> Nature Genet. 8: 77-81, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987396</a>] [<a href="https://doi.org/10.1038/ng0994-77" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987396">Mochizuki et al., 1994</a>; <a href="#3" class="mim-tip-reference" title="Colville, D., Savige, J., Morfis, M., Ellis, J., Kerr, P., Agar, J., Fasset, R. <strong>Ocular manifestations of autosomal recessive Alport syndrome.</strong> Ophthal. Genet. 18: 119-128, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9361309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9361309</a>] [<a href="https://doi.org/10.3109/13816819709057125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9361309">Colville et al. (1997)</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7987396+9361309" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a general phenotypic description of Alport syndrome, see the X-linked dominant form (ATS1; <a href="/entry/301050">301050</a>). Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive; autosomal dominant inheritance (ATS3A; <a href="/entry/104200">104200</a>) is rare (<a href="#9" class="mim-tip-reference" title="van der Loop, F. T. L., Heidet, L., Timmer, E. D. J., van den Bosch, B. J. C., Leinonen, A., Antignac, C., Jefferson, J. A., Maxwell, A. P., Monnens, L. A. H., Schroder, C. H., Smeets, H. J. M. <strong>Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.</strong> Kidney Int. 58: 1870-1875, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11044206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11044206</a>] [<a href="https://doi.org/10.1111/j.1523-1755.2000.00358.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11044206">van der Loop et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11044206" 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>See also benign familial hematuria (BFH; <a href="/entry/141200">141200</a>), a similar but milder disorder.</p>
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<strong>Clinical Features</strong>
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<p><a href="#7" class="mim-tip-reference" title="Mochizuki, T., Lemmink, H. H., Mariyama, M., Antignac, C., Gubler, M.-C., Pirson, Y., Verellen-Dumoulin, C., Chan, B., Schroder, C. H., Smeets, H. J., Reeders, S. T. <strong>Identification of mutations in the alpha-3(IV) and alpha-4(IV) collagen genes in autosomal recessive Alport syndrome.</strong> Nature Genet. 8: 77-81, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987396</a>] [<a href="https://doi.org/10.1038/ng0994-77" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987396">Mochizuki et al. (1994)</a> reported 2 unrelated families with autosomal recessive Alport syndrome and mutation in the COL4A4 gene. In family BE, 2 sisters were affected: end-stage renal disease developed in the older sister at the age of 14, but no deafness or ocular abnormalities were observed. Renal biopsy at age 7 years showed thinning and focal thickening of the glomerular basement membrane. The other sister was noted to have microscopic hematuria at age 5, and developed nephrotic syndrome without a decrease in renal function at age 11. She also had no deafness or ocular abnormalities. Their consanguineous parents, Berbers from Algeria, tested negative for hematuria and proteinuria. The proband from family GA had albuminuria and hematuria at age 8 years. Renal function deteriorated progressively; hemodialysis was started at age 18 years and she underwent kidney transplant. Her 2 affected sisters died of renal failure at age 12 and 8 years. The parents shared the same surname and originated from the same small village in Italy. The mother had normal renal function and no urinary abnormalities at age 53; in the father, who had normal renal function, microhematuria had been found intermittently. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7987396" 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="#3" class="mim-tip-reference" title="Colville, D., Savige, J., Morfis, M., Ellis, J., Kerr, P., Agar, J., Fasset, R. <strong>Ocular manifestations of autosomal recessive Alport syndrome.</strong> Ophthal. Genet. 18: 119-128, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9361309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9361309</a>] [<a href="https://doi.org/10.3109/13816819709057125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9361309">Colville et al. (1997)</a> examined the eyes of a family with autosomal recessive Alport syndrome. Four of the 8 offspring of a consanguineous marriage had renal failure and deafness by the age of 20 years. Studies of linkage to the COL4A5 (<a href="/entry/303630">303630</a>)/COL4A6 (<a href="/entry/303631">303631</a>) locus yielded strongly negative lod scores (excluding the X-linked form), whereas linkage to an intragenic marker for the COL4A3/COL4A4 locus showed positive lod scores consistent with the autosomal recessive form. All 4 affected members had anterior lenticonus, and the 3 who were examined had a dot-and-fleck retinopathy. <a href="#3" class="mim-tip-reference" title="Colville, D., Savige, J., Morfis, M., Ellis, J., Kerr, P., Agar, J., Fasset, R. <strong>Ocular manifestations of autosomal recessive Alport syndrome.</strong> Ophthal. Genet. 18: 119-128, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9361309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9361309</a>] [<a href="https://doi.org/10.3109/13816819709057125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9361309">Colville et al. (1997)</a> concluded that the ocular manifestations of autosomal recessive Alport syndrome are identical to those of the X-linked form. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9361309" 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>To assess the prevalence of recurrent corneal erosion (RCE) in Alport syndrome, <a href="#8" class="mim-tip-reference" title="Rhys, C., Snyers, B., Pirson, Y. <strong>Recurrent corneal erosion associated with Alport's syndrome.</strong> Kidney Int. 52: 208-211, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9211364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9211364</a>] [<a href="https://doi.org/10.1038/ki.1997.321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9211364">Rhys et al. (1997)</a> surveyed 41 patients with Alport syndrome and renal failure and 67 control patients transplanted for another form of nephropathy. A history of RCE, first manifested between the ages of 12 and 21 years, was obtained in 7 Alport syndrome patients, 1 with probable autosomal recessive inheritance, but in only 1 control patient (p = 0.003). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9211364" 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="Boye, E., Mollet, G., Forestier, L., Cohen-Solal, L., Heidet, L., Cochat, P., Grunfeld, J.-P., Palcoux, J.-B., Gubler, M.-C., Antignac, C. <strong>Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.</strong> Am. J. Hum. Genet. 63: 1329-1340, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792860/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792860</a>] [<a href="https://doi.org/10.1086/302106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792860">Boye et al. (1998)</a> identified 10 patients from 3 families with autosomal recessive Alport syndrome and mutation in the COL4A4 gene. All of the patients had features of severe Alport syndrome, including deafness. Five of them, aged 22 to 34 years, had end-stage renal disease or chronic renal failure, and the 5 others, all aged less than 28 years, presented hematuria and proteinuria. Heterozygotes had either no hematuria or permanent microscopic hematuria with normal renal function, even at 90 years of age. One heterozygous individual had microscopic, with episodes of macroscopic, hematuria. Renal biopsy of 1 heterozygote at age 27 years revealed thin basement membranes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792860" 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>The transmission pattern of ATS2 in the families reported by <a href="#7" class="mim-tip-reference" title="Mochizuki, T., Lemmink, H. H., Mariyama, M., Antignac, C., Gubler, M.-C., Pirson, Y., Verellen-Dumoulin, C., Chan, B., Schroder, C. H., Smeets, H. J., Reeders, S. T. <strong>Identification of mutations in the alpha-3(IV) and alpha-4(IV) collagen genes in autosomal recessive Alport syndrome.</strong> Nature Genet. 8: 77-81, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987396</a>] [<a href="https://doi.org/10.1038/ng0994-77" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987396">Mochizuki et al. (1994)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7987396" 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 3 sibs with autosomal recessive Alport syndrome reported by <a href="#1" class="mim-tip-reference" title="Anazi, S., Al-Sabban, E., Alkuraya, F. S. <strong>Gonadal mosaicism as a rare cause of autosomal recessive inheritance.</strong> Clin. Genet. 85: 278-281, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23551117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23551117</a>] [<a href="https://doi.org/10.1111/cge.12156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23551117">Anazi et al. (2014)</a>, 1 mutation was found in the father, and the other mutation was determined to result from maternal gonadal mosaicism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23551117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 2 unrelated families with autosomal recessive Alport syndrome, <a href="#7" class="mim-tip-reference" title="Mochizuki, T., Lemmink, H. H., Mariyama, M., Antignac, C., Gubler, M.-C., Pirson, Y., Verellen-Dumoulin, C., Chan, B., Schroder, C. H., Smeets, H. J., Reeders, S. T. <strong>Identification of mutations in the alpha-3(IV) and alpha-4(IV) collagen genes in autosomal recessive Alport syndrome.</strong> Nature Genet. 8: 77-81, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987396</a>] [<a href="https://doi.org/10.1038/ng0994-77" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987396">Mochizuki et al. (1994)</a> identified homozygous mutations in the COL4A4 (<a href="/entry/120131#0001">120131.0001</a>-<a href="/entry/120131#0002">120131.0002</a>) gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7987396" 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="Boye, E., Mollet, G., Forestier, L., Cohen-Solal, L., Heidet, L., Cochat, P., Grunfeld, J.-P., Palcoux, J.-B., Gubler, M.-C., Antignac, C. <strong>Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.</strong> Am. J. Hum. Genet. 63: 1329-1340, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792860/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792860</a>] [<a href="https://doi.org/10.1086/302106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792860">Boye et al. (1998)</a> identified 10 pathogenic mutations in the COL4A4 gene in 8 patients with autosomal recessive Alport syndrome. There were 2 nonsense, 3 frameshift, 1 in-frame deletion, 2 splicing, and 2 missense mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792860" 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="Anazi, S., Al-Sabban, E., Alkuraya, F. S. <strong>Gonadal mosaicism as a rare cause of autosomal recessive inheritance.</strong> Clin. Genet. 85: 278-281, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23551117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23551117</a>] [<a href="https://doi.org/10.1111/cge.12156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23551117">Anazi et al. (2014)</a> reported an unusual mode of transmission in a family in which 3 sibs, born of double-cousin consanguineous parents, had Alport syndrome. After autozygosity mapping failed to yield definitive results, exome sequencing revealed compound heterozygous truncating mutations in the COL4A4 gene that segregated with the disorder in the family. One mutation was found in the father, but the other mutation was determined to result from maternal gonadal mosaicism. <a href="#1" class="mim-tip-reference" title="Anazi, S., Al-Sabban, E., Alkuraya, F. S. <strong>Gonadal mosaicism as a rare cause of autosomal recessive inheritance.</strong> Clin. Genet. 85: 278-281, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23551117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23551117</a>] [<a href="https://doi.org/10.1111/cge.12156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23551117">Anazi et al. (2014)</a> discussed the implications of this rare occurrence for genetic counseling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23551117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Gubler, M.-C., Knebelmann, B., Beziau, A., Broyer, M., Pirson, Y., Haddoum, F., Kleppel, M. M., Antignac, C. <strong>Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution.</strong> Kidney Int. 47: 1142-1147, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7783412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7783412</a>] [<a href="https://doi.org/10.1038/ki.1995.163" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7783412">Gubler et al. (1995)</a> stated that up to 15% of Alport syndrome cases represent the autosomal recessive form due to mutations in either the COL4A3 or the COL4A4 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7783412" 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>Evidence of Digenic Inheritance</em></strong></p><p>
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Using massively parallel sequencing, <a href="#6" class="mim-tip-reference" title="Mencarelli, M. A., Heidet, L., Storey, H., van Geel, M., Knebelmann, B., Fallerini, C., Miglietti, N., Antonucci, M. F., Cetta, F., Sayer, J. A., van den Wijngaard, A., Yau, S., Mari, F., Bruttini, M., Ariani, F., Dahan, K., Smeets, B., Antignac, C., Flinter, F., Renieri, A. <strong>Evidence of digenic inheritance in Alport syndrome.</strong> J. Med. Genet. 52: 163-174, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25575550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25575550</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102822" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25575550">Mencarelli et al. (2015)</a> identified 11 patients with Alport syndrome who had pathogenic mutations in 2 of the 3 collagen IV genes. Seven patients had a combination of mutations in COL4A3 (<a href="/entry/120070">120070</a>) and COL4A4 (<a href="/entry/120131">120131</a>). In 5 of these patients (families 1 through 5), the 2 mutations were inherited independently (like in trans), and in the other 2 (families 6 and 7) the mutations were inherited on the same chromosome (like in cis). In families 1 through 5 individuals with 2 heterozygous mutations had more severe phenotypes than those with a single heterozygous mutation. Individuals carrying a heterozygous mutation only in COL4A3 had hematuria. Individuals carrying a heterozygous mutation only in COL4A4 had phenotypes ranging from hematuria to end-stage renal disease. In families 6 and 7, the phenotype in individuals carrying 2 mutations was more severe than expected for the classic autosomal dominant form, with 1 affected individual from each of these families progressing toward end-stage renal disease at 40 years of age. <a href="#6" class="mim-tip-reference" title="Mencarelli, M. A., Heidet, L., Storey, H., van Geel, M., Knebelmann, B., Fallerini, C., Miglietti, N., Antonucci, M. F., Cetta, F., Sayer, J. A., van den Wijngaard, A., Yau, S., Mari, F., Bruttini, M., Ariani, F., Dahan, K., Smeets, B., Antignac, C., Flinter, F., Renieri, A. <strong>Evidence of digenic inheritance in Alport syndrome.</strong> J. Med. Genet. 52: 163-174, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25575550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25575550</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102822" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25575550">Mencarelli et al. (2015)</a> remarked that this is later than the mean age expected in the autosomal recessive form of Alport syndrome (31 years), but earlier than expected in the autosomal dominant form (56 years). <a href="#6" class="mim-tip-reference" title="Mencarelli, M. A., Heidet, L., Storey, H., van Geel, M., Knebelmann, B., Fallerini, C., Miglietti, N., Antonucci, M. F., Cetta, F., Sayer, J. A., van den Wijngaard, A., Yau, S., Mari, F., Bruttini, M., Ariani, F., Dahan, K., Smeets, B., Antignac, C., Flinter, F., Renieri, A. <strong>Evidence of digenic inheritance in Alport syndrome.</strong> J. Med. Genet. 52: 163-174, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25575550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25575550</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102822" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25575550">Mencarelli et al. (2015)</a> concluded that these observations fit well with the stoichiometry of the molecules of the triple helix. In double heterozygotes, about 75% of triple-helix molecules are expected to be defective, which is greater than 50% in heterozygotes and less than 100% in homozygotes or hemizygotes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25575550" 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="#Gubler1981" class="mim-tip-reference" title="Gubler, M., Levy, M., Broyer, M., Naizot, C., Gonzales, G., Perrin, D., Habib, R. <strong>Alport's syndrome: a report of 58 cases and a review of the literature.</strong> Am. J. Med. 70: 493-505, 1981.">Gubler et al. (1981)</a>
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Anazi, S., Al-Sabban, E., Alkuraya, F. S.
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<strong>Gonadal mosaicism as a rare cause of autosomal recessive inheritance.</strong>
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Clin. Genet. 85: 278-281, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23551117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23551117</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23551117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/cge.12156" target="_blank">Full Text</a>]
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Boye, E., Mollet, G., Forestier, L., Cohen-Solal, L., Heidet, L., Cochat, P., Grunfeld, J.-P., Palcoux, J.-B., Gubler, M.-C., Antignac, C.
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<strong>Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.</strong>
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Am. J. Hum. Genet. 63: 1329-1340, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792860/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792860</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792860" 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/10.1086/302106" target="_blank">Full Text</a>]
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Colville, D., Savige, J., Morfis, M., Ellis, J., Kerr, P., Agar, J., Fasset, R.
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<strong>Ocular manifestations of autosomal recessive Alport syndrome.</strong>
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Ophthal. Genet. 18: 119-128, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9361309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9361309</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9361309" 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/10.3109/13816819709057125" target="_blank">Full Text</a>]
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<a id="Gubler1981" class="mim-anchor"></a>
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Gubler, M., Levy, M., Broyer, M., Naizot, C., Gonzales, G., Perrin, D., Habib, R.
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<strong>Alport's syndrome: a report of 58 cases and a review of the literature.</strong>
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Am. J. Med. 70: 493-505, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7211891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7211891</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7211891" 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/10.1016/0002-9343(81)90571-4" target="_blank">Full Text</a>]
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Gubler, M.-C., Knebelmann, B., Beziau, A., Broyer, M., Pirson, Y., Haddoum, F., Kleppel, M. M., Antignac, C.
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<strong>Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution.</strong>
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Kidney Int. 47: 1142-1147, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7783412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7783412</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7783412" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ki.1995.163" target="_blank">Full Text</a>]
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Mencarelli, M. A., Heidet, L., Storey, H., van Geel, M., Knebelmann, B., Fallerini, C., Miglietti, N., Antonucci, M. F., Cetta, F., Sayer, J. A., van den Wijngaard, A., Yau, S., Mari, F., Bruttini, M., Ariani, F., Dahan, K., Smeets, B., Antignac, C., Flinter, F., Renieri, A.
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<strong>Evidence of digenic inheritance in Alport syndrome.</strong>
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J. Med. Genet. 52: 163-174, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25575550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25575550</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25575550" 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/10.1136/jmedgenet-2014-102822" target="_blank">Full Text</a>]
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Mochizuki, T., Lemmink, H. H., Mariyama, M., Antignac, C., Gubler, M.-C., Pirson, Y., Verellen-Dumoulin, C., Chan, B., Schroder, C. H., Smeets, H. J., Reeders, S. T.
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<strong>Identification of mutations in the alpha-3(IV) and alpha-4(IV) collagen genes in autosomal recessive Alport syndrome.</strong>
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Nature Genet. 8: 77-81, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987396</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7987396" 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/ng0994-77" target="_blank">Full Text</a>]
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Rhys, C., Snyers, B., Pirson, Y.
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<strong>Recurrent corneal erosion associated with Alport's syndrome.</strong>
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Kidney Int. 52: 208-211, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9211364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9211364</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9211364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ki.1997.321" target="_blank">Full Text</a>]
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van der Loop, F. T. L., Heidet, L., Timmer, E. D. J., van den Bosch, B. J. C., Leinonen, A., Antignac, C., Jefferson, J. A., Maxwell, A. P., Monnens, L. A. H., Schroder, C. H., Smeets, H. J. M.
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<strong>Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.</strong>
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Kidney Int. 58: 1870-1875, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11044206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11044206</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11044206" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1523-1755.2000.00358.x" target="_blank">Full Text</a>]
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Anne M. Stumpf : 10/05/2023
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alopez : 10/06/2023
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alopez : 10/06/2023<br>alopez : 10/06/2023
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ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE; ATS2
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<strong>ORPHA:</strong> 63, 88919;
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<strong>DO:</strong> 0110033;
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<strong>Phenotype-Gene Relationships</strong>
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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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2q36.3
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Alport syndrome 2, autosomal recessive
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203780
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Autosomal recessive
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3
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COL4A4
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120131
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive Alport syndrome-2 (ATS2) is caused by homozygous or compound heterozygous mutation in the COL4A4 gene (120131) on chromosome 2q36.</p><p>Another form of autosomal recessive Alport syndrome (ATS3B; 620536) results from homozygous or compound heterozygous mutation in the COL4A3 gene (120070) on chromosome 2q36.</p>
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<p>Autosomal recessive Alport syndrome-2 (ATS2) is a hereditary disorder of the basement membrane, resulting in a glomerulonephropathy causing renal failure. Progressive deafness and ocular anomalies may also occur (Mochizuki et al., 1994; Colville et al. (1997)). </p><p>For a general phenotypic description of Alport syndrome, see the X-linked dominant form (ATS1; 301050). Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive; autosomal dominant inheritance (ATS3A; 104200) is rare (van der Loop et al., 2000). </p><p>See also benign familial hematuria (BFH; 141200), a similar but milder disorder.</p>
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<p>Mochizuki et al. (1994) reported 2 unrelated families with autosomal recessive Alport syndrome and mutation in the COL4A4 gene. In family BE, 2 sisters were affected: end-stage renal disease developed in the older sister at the age of 14, but no deafness or ocular abnormalities were observed. Renal biopsy at age 7 years showed thinning and focal thickening of the glomerular basement membrane. The other sister was noted to have microscopic hematuria at age 5, and developed nephrotic syndrome without a decrease in renal function at age 11. She also had no deafness or ocular abnormalities. Their consanguineous parents, Berbers from Algeria, tested negative for hematuria and proteinuria. The proband from family GA had albuminuria and hematuria at age 8 years. Renal function deteriorated progressively; hemodialysis was started at age 18 years and she underwent kidney transplant. Her 2 affected sisters died of renal failure at age 12 and 8 years. The parents shared the same surname and originated from the same small village in Italy. The mother had normal renal function and no urinary abnormalities at age 53; in the father, who had normal renal function, microhematuria had been found intermittently. </p><p>Colville et al. (1997) examined the eyes of a family with autosomal recessive Alport syndrome. Four of the 8 offspring of a consanguineous marriage had renal failure and deafness by the age of 20 years. Studies of linkage to the COL4A5 (303630)/COL4A6 (303631) locus yielded strongly negative lod scores (excluding the X-linked form), whereas linkage to an intragenic marker for the COL4A3/COL4A4 locus showed positive lod scores consistent with the autosomal recessive form. All 4 affected members had anterior lenticonus, and the 3 who were examined had a dot-and-fleck retinopathy. Colville et al. (1997) concluded that the ocular manifestations of autosomal recessive Alport syndrome are identical to those of the X-linked form. </p><p>To assess the prevalence of recurrent corneal erosion (RCE) in Alport syndrome, Rhys et al. (1997) surveyed 41 patients with Alport syndrome and renal failure and 67 control patients transplanted for another form of nephropathy. A history of RCE, first manifested between the ages of 12 and 21 years, was obtained in 7 Alport syndrome patients, 1 with probable autosomal recessive inheritance, but in only 1 control patient (p = 0.003). </p><p>Boye et al. (1998) identified 10 patients from 3 families with autosomal recessive Alport syndrome and mutation in the COL4A4 gene. All of the patients had features of severe Alport syndrome, including deafness. Five of them, aged 22 to 34 years, had end-stage renal disease or chronic renal failure, and the 5 others, all aged less than 28 years, presented hematuria and proteinuria. Heterozygotes had either no hematuria or permanent microscopic hematuria with normal renal function, even at 90 years of age. One heterozygous individual had microscopic, with episodes of macroscopic, hematuria. Renal biopsy of 1 heterozygote at age 27 years revealed thin basement membranes. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of ATS2 in the families reported by Mochizuki et al. (1994) was consistent with autosomal recessive inheritance. </p><p>In 3 sibs with autosomal recessive Alport syndrome reported by Anazi et al. (2014), 1 mutation was found in the father, and the other mutation was determined to result from maternal gonadal mosaicism. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of 2 unrelated families with autosomal recessive Alport syndrome, Mochizuki et al. (1994) identified homozygous mutations in the COL4A4 (120131.0001-120131.0002) gene. </p><p>Boye et al. (1998) identified 10 pathogenic mutations in the COL4A4 gene in 8 patients with autosomal recessive Alport syndrome. There were 2 nonsense, 3 frameshift, 1 in-frame deletion, 2 splicing, and 2 missense mutations. </p><p>Anazi et al. (2014) reported an unusual mode of transmission in a family in which 3 sibs, born of double-cousin consanguineous parents, had Alport syndrome. After autozygosity mapping failed to yield definitive results, exome sequencing revealed compound heterozygous truncating mutations in the COL4A4 gene that segregated with the disorder in the family. One mutation was found in the father, but the other mutation was determined to result from maternal gonadal mosaicism. Anazi et al. (2014) discussed the implications of this rare occurrence for genetic counseling. </p><p>Gubler et al. (1995) stated that up to 15% of Alport syndrome cases represent the autosomal recessive form due to mutations in either the COL4A3 or the COL4A4 gene. </p><p><strong><em>Evidence of Digenic Inheritance</em></strong></p><p>
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Using massively parallel sequencing, Mencarelli et al. (2015) identified 11 patients with Alport syndrome who had pathogenic mutations in 2 of the 3 collagen IV genes. Seven patients had a combination of mutations in COL4A3 (120070) and COL4A4 (120131). In 5 of these patients (families 1 through 5), the 2 mutations were inherited independently (like in trans), and in the other 2 (families 6 and 7) the mutations were inherited on the same chromosome (like in cis). In families 1 through 5 individuals with 2 heterozygous mutations had more severe phenotypes than those with a single heterozygous mutation. Individuals carrying a heterozygous mutation only in COL4A3 had hematuria. Individuals carrying a heterozygous mutation only in COL4A4 had phenotypes ranging from hematuria to end-stage renal disease. In families 6 and 7, the phenotype in individuals carrying 2 mutations was more severe than expected for the classic autosomal dominant form, with 1 affected individual from each of these families progressing toward end-stage renal disease at 40 years of age. Mencarelli et al. (2015) remarked that this is later than the mean age expected in the autosomal recessive form of Alport syndrome (31 years), but earlier than expected in the autosomal dominant form (56 years). Mencarelli et al. (2015) concluded that these observations fit well with the stoichiometry of the molecules of the triple helix. In double heterozygotes, about 75% of triple-helix molecules are expected to be defective, which is greater than 50% in heterozygotes and less than 100% in homozygotes or hemizygotes. </p>
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<strong>See Also:</strong>
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<span class="mim-text-font">
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Gubler et al. (1981)
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<strong>REFERENCES</strong>
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Anazi, S., Al-Sabban, E., Alkuraya, F. S.
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<strong>Gonadal mosaicism as a rare cause of autosomal recessive inheritance.</strong>
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Clin. Genet. 85: 278-281, 2014.
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[PubMed: 23551117]
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[Full Text: https://doi.org/10.1111/cge.12156]
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Boye, E., Mollet, G., Forestier, L., Cohen-Solal, L., Heidet, L., Cochat, P., Grunfeld, J.-P., Palcoux, J.-B., Gubler, M.-C., Antignac, C.
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<strong>Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.</strong>
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Am. J. Hum. Genet. 63: 1329-1340, 1998.
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[PubMed: 9792860]
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[Full Text: https://doi.org/10.1086/302106]
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Colville, D., Savige, J., Morfis, M., Ellis, J., Kerr, P., Agar, J., Fasset, R.
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<strong>Ocular manifestations of autosomal recessive Alport syndrome.</strong>
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Ophthal. Genet. 18: 119-128, 1997.
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[PubMed: 9361309]
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van der Loop, F. T. L., Heidet, L., Timmer, E. D. J., van den Bosch, B. J. C., Leinonen, A., Antignac, C., Jefferson, J. A., Maxwell, A. P., Monnens, L. A. H., Schroder, C. H., Smeets, H. J. M.
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