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Entry
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- #104200 - ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT; ATS3A
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- OMIM
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<p>
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<span class="h4">#104200</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/104200"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS301050"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#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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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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</span>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT" 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=11850&Typ=Pat" title="Autosomal dominant Alport syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Autosomal dominant 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=104200[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=88918" title="Autosomal dominant Alport syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Autosomal dominant Alport …</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110032" 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/104200" 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/OMIA001114/" 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:0110032" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:104200" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 63, 88918<br />
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<strong>DO:</strong> 0110032<br />
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">ICD+</a>
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<div>
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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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104200
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</span>
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</span>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT; ATS3A
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</span>
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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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Location
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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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<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/2/1071?start=-3&limit=10&highlight=1071">
|
|
2q36.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Alport syndrome 3A, autosomal dominant
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/104200"> 104200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
COL4A3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120070"> 120070 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/104200" 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>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS301050" 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>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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/104200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/104200" 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>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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">
|
|
|
|
- Deafness, sensorineural, especially affecting high frequencies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278310</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<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>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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 /> -
|
|
Hematuria, gross and microscopic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278303&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278303</a>]</span><br /> -
|
|
Proteinuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29738008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29738008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/231860006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">231860006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1279888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279888</a>, <a href="https://bioportal.bioontology.org/search?q=C0033687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033687</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</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 /> -
|
|
Thinning of the glomerular basement membrane (early in the disease) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278304&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278304</a>]</span><br /> -
|
|
Thickening of the glomerular basement membrane (later in the disease) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278305</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/264932002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">264932002</a>]</span><br /> -
|
|
Splitting of the glomerular basement membrane <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278306&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278306</a>]</span><br /> -
|
|
Diffuse lamellation of the glomerular basement membrane <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278307&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278307</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</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> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hematuria, gross and microscopic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278303&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278303</a>]</span><br /> -
|
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Proteinuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29738008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29738008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/231860006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">231860006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1279888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279888</a>, <a href="https://bioportal.bioontology.org/search?q=C0033687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033687</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span><br />
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span><br /> -
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Hearing loss is variable<br />
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</span>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the collagen, type IV, alpha-3 gene (COL4A3, <a href="/entry/120070#0009">120070.0009</a>)<br />
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</span>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Alport syndrome
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- <a href="/phenotypicSeries/PS301050">PS301050</a>
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- 4 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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</th>
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<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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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus<br />MIM number</strong>
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/2/1070?start=-3&limit=10&highlight=1070"> 2q36.3 </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/203780"> Alport syndrome 2, autosomal recessive </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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<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/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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<a href="/entry/120131"> COL4A4 </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/120131"> 120131 </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/2/1071?start=-3&limit=10&highlight=1071"> 2q36.3 </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/620536"> Alport syndrome 3B, autosomal recessive </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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<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/620536"> 620536 </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/120070"> COL4A3 </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/120070"> 120070 </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/2/1071?start=-3&limit=10&highlight=1071"> 2q36.3 </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/104200"> Alport syndrome 3A, autosomal dominant </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="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/104200"> 104200 </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/120070"> COL4A3 </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/120070"> 120070 </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/X/560?start=-3&limit=10&highlight=560"> Xq22.3 </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/301050"> Alport syndrome 1, X-linked </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="X-linked dominant">XLD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/301050"> 301050 </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/303630"> COL4A5 </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/303630"> 303630 </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 class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="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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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because autosomal dominant Alport syndrome-3A (ATS3A) is caused by heterozygous mutation in the COL4A3 gene (<a href="/entry/120070">120070</a>) on chromosome 2q36.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Alport syndrome classically comprises nephritis, often progressing to renal failure, and sensorineural hearing loss (<a href="#1" class="mim-tip-reference" title="Alport, A. C. <strong>Hereditary familial congenital haemorrhagic nephritis.</strong> Brit. Med. J. 1: 504-506, 1927.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20773074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20773074</a>] [<a href="https://doi.org/10.1136/bmj.1.3454.504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20773074">Alport, 1927</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20773074" 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 (ATS2, <a href="/entry/203780">203780</a>; ATS3B, <a href="/entry/620536">620536</a>); autosomal dominant inheritance is rare (<a href="#11" 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>Also see benign familial hematuria (BFH; <a href="/entry/141200">141200</a>), a similar but milder disorder also caused by mutation in the COL4A3 gene.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="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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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#5" class="mim-tip-reference" title="Jefferson, J. A., Lemmink, H. H., Hughes, A. E., Hill, C. M., Smeets, H. J., Doherty, C. C., Maxwell, A. P. <strong>Autosomal dominant Alport syndrome linked to the type IV collagen alpha 3 and alpha 4 genes (COL4A3 and COL4A4).</strong> Nephrol. Dial. Transplant. 12: 1595-1599, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9269635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9269635</a>] [<a href="https://doi.org/10.1093/ndt/12.8.1595" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9269635">Jefferson et al. (1997)</a> reported an Irish family with apparent autosomal dominant inheritance of Alport syndrome. The proband was a young man who presented with asymptomatic microhematuria and hypertension. His renal function deteriorated and he reached end-stage renal failure at age 35 years. He also had mild high-tone deafness. His father had a long history of microhematuria and hypertension, with documented renal failure before his death at age 68 years from myocardial infarction. Screening of other sibs of the proband showed 4 sisters and 1 brother with microhematuria and proteinuria. All had normal audiograms. The mother had no evidence of hematuria or renal dysfunction. Electron microscopy of affected individuals showed an irregular and thickened glomerular basement membrane, characteristic of Alport syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9269635" 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 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. 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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<p><a href="#2" class="mim-tip-reference" title="Evans, S. H., Erickson, R. P., Kelsch, R., Pierce, J. C. <strong>Apparently changing patterns of inheritance in Alport's hereditary nephritis: genetic heterogeneity versus altered diagnostic criteria.</strong> Clin. Genet. 17: 285-292, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7371220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7371220</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1980.tb00149.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7371220">Evans et al. (1980)</a> reviewed the inheritance of Alport syndrome and noted that early reports of dominant inheritance (e.g., <a href="#10" class="mim-tip-reference" title="Shaw, R. F., Glover, R. A. <strong>Abnormal segregation in hereditary renal disease with deafness.</strong> Am. J. Hum. Genet. 13: 89-97, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17948465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17948465</a>]" pmid="17948465">Shaw and Glover, 1961</a>; Perkoff et al. (<a href="#9" class="mim-tip-reference" title="Perkoff, G. T., Stephens, F. E., Dolowitz, D. A., Tyler, F. H. <strong>A clinical study of hereditary interstitial pyelonephritis.</strong> Arch. Intern. Med. 88: 191-200, 1951.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14856448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14856448</a>] [<a href="https://doi.org/10.1001/archinte.1951.03810080059006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14856448">1951</a>, <a href="#8" class="mim-tip-reference" title="Perkoff, G. T., Nugent, C. A., Jr., Dolowitz, D. A., Stephens, F. E., Carnes, W. H., Tyler, F. H. <strong>A follow-up study of hereditary chronic nephritis.</strong> Arch. Intern. Med. 102: 733-746, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13582260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13582260</a>] [<a href="https://doi.org/10.1001/archinte.1958.00260220049005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13582260">1958</a>)) were later considered to be more consistent with X-linked dominant inheritance (<a href="#7" class="mim-tip-reference" title="O'Neill, W. M., Jr., Atkin, C. L., Bloomer, H. A. <strong>Hereditary nephritis: a re-examination of its clinical and genetic features.</strong> Ann. Intern. Med. 88: 176-182, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/626446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">626446</a>] [<a href="https://doi.org/10.7326/0003-4819-88-2-176" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="626446">O'Neill et al., 1978</a>). However, <a href="#2" class="mim-tip-reference" title="Evans, S. H., Erickson, R. P., Kelsch, R., Pierce, J. C. <strong>Apparently changing patterns of inheritance in Alport's hereditary nephritis: genetic heterogeneity versus altered diagnostic criteria.</strong> Clin. Genet. 17: 285-292, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7371220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7371220</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1980.tb00149.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7371220">Evans et al. (1980)</a> noted the variation in inheritance patterns and reported a family with male-to-male transmission, suggesting genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=626446+13582260+14856448+7371220+17948465" 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="Feingold, J., Bois, E., Chompret, A., Broyer, M., Gubler, M.-C., Grunfeld, J.-P. <strong>Genetic heterogeneity of Alport syndrome.</strong> Kidney Int. 27: 672-677, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4010153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4010153</a>] [<a href="https://doi.org/10.1038/ki.1985.63" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4010153">Feingold et al. (1985)</a> also suggested that there is an autosomal dominant form of Alport syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4010153" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By linkage analysis of a family with apparent autosomal dominant inheritance of Alport syndrome, <a href="#5" class="mim-tip-reference" title="Jefferson, J. A., Lemmink, H. H., Hughes, A. E., Hill, C. M., Smeets, H. J., Doherty, C. C., Maxwell, A. P. <strong>Autosomal dominant Alport syndrome linked to the type IV collagen alpha 3 and alpha 4 genes (COL4A3 and COL4A4).</strong> Nephrol. Dial. Transplant. 12: 1595-1599, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9269635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9269635</a>] [<a href="https://doi.org/10.1093/ndt/12.8.1595" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9269635">Jefferson et al. (1997)</a> found linkage to a region on chromosome 2q in the vicinity of the COL4A3 and COL4A4 genes. However, no pathogenic mutations were identified by direct sequencing. The authors hypothesized that heterozygous mutations in these genes could result in a less severe phenotype than that of autosomal recessive Alport, which is caused by homozygous or compound heterozygous mutations in these genes. They also noted that heterozygous mutations in these genes result in benign familial hematuria (BFH; <a href="/entry/141200">141200</a>), which does not result in renal failure. <a href="#5" class="mim-tip-reference" title="Jefferson, J. A., Lemmink, H. H., Hughes, A. E., Hill, C. M., Smeets, H. J., Doherty, C. C., Maxwell, A. P. <strong>Autosomal dominant Alport syndrome linked to the type IV collagen alpha 3 and alpha 4 genes (COL4A3 and COL4A4).</strong> Nephrol. Dial. Transplant. 12: 1595-1599, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9269635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9269635</a>] [<a href="https://doi.org/10.1093/ndt/12.8.1595" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9269635">Jefferson et al. (1997)</a> postulated that mutations in the type IV collagen genes can cause a spectrum of disease, ranging from BFH to autosomal dominant and recessive forms of Alport syndrome. Such a variation in clinical expression due to mutations in collagen genes is well recognized. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9269635" 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 a family with autosomal dominant Alport syndrome reported by <a href="#5" class="mim-tip-reference" title="Jefferson, J. A., Lemmink, H. H., Hughes, A. E., Hill, C. M., Smeets, H. J., Doherty, C. C., Maxwell, A. P. <strong>Autosomal dominant Alport syndrome linked to the type IV collagen alpha 3 and alpha 4 genes (COL4A3 and COL4A4).</strong> Nephrol. Dial. Transplant. 12: 1595-1599, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9269635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9269635</a>] [<a href="https://doi.org/10.1093/ndt/12.8.1595" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9269635">Jefferson et al. (1997)</a>, <a href="#11" 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> identified a heterozygous mutation in the COL4A3 gene (<a href="/entry/120070#0009">120070.0009</a>). The mutation resulted in a splice site mutation and a mutant protein with a deletion in the collagenous domain. The mutation was found in all 6 affected individuals and in none of 8 unaffected individuals. Since the noncollagenous domain remained intact, this mutant chain may be incorporated and distort the collagen triple helix, causing a dominant effect. The finding of a COL4A3 mutation in autosomal dominant Alport syndrome completed the broad spectrum of type IV collagen mutations, ranging from no effect at all and familial benign hematuria to mild autosomal dominant and severe autosomal recessive Alport syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9269635+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>In a mother and daughter with autosomal dominant Alport syndrome, <a href="#4" class="mim-tip-reference" title="Heidet, L., Arrondel, C., Forestier, L., Cohen-Solal, L., Mollet, G., Gutierrez, B., Stavrou, C., Gubler, M. C., Antignac, C. <strong>Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.</strong> J. Am. Soc. Nephrol. 12: 97-106, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11134255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11134255</a>] [<a href="https://doi.org/10.1681/ASN.V12197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11134255">Heidet et al. (2001)</a> identified a heterozygous mutation in the COL4A3 gene (G1167R; <a href="/entry/120070#0010">120070.0010</a>). The daughter developed end-stage renal failure at age 23 years. Her mother had microscopic hematuria and proteinuria, but still had normal renal function at age 52 years, although renal biopsy showed thinning of and splitting of the glomerular basement membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11134255" 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>Hereditary familial congenital haemorrhagic nephritis.</strong>
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Brit. Med. J. 1: 504-506, 1927.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20773074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20773074</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20773074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Apparently changing patterns of inheritance in Alport's hereditary nephritis: genetic heterogeneity versus altered diagnostic criteria.</strong>
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Clin. Genet. 17: 285-292, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7371220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7371220</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7371220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Feingold, J., Bois, E., Chompret, A., Broyer, M., Gubler, M.-C., Grunfeld, J.-P.
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<strong>Genetic heterogeneity of Alport syndrome.</strong>
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Kidney Int. 27: 672-677, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4010153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4010153</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4010153" 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.1985.63" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Heidet2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Heidet, L., Arrondel, C., Forestier, L., Cohen-Solal, L., Mollet, G., Gutierrez, B., Stavrou, C., Gubler, M. C., Antignac, C.
|
|
<strong>Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.</strong>
|
|
J. Am. Soc. Nephrol. 12: 97-106, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11134255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11134255</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11134255" 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.V12197" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Jefferson1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Jefferson, J. A., Lemmink, H. H., Hughes, A. E., Hill, C. M., Smeets, H. J., Doherty, C. C., Maxwell, A. P.
|
|
<strong>Autosomal dominant Alport syndrome linked to the type IV collagen alpha 3 and alpha 4 genes (COL4A3 and COL4A4).</strong>
|
|
Nephrol. Dial. Transplant. 12: 1595-1599, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9269635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9269635</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9269635" 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/10.1093/ndt/12.8.1595" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Mencarelli2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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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.
|
|
<strong>Evidence of digenic inheritance in Alport syndrome.</strong>
|
|
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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</p>
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</div>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="O'Neill1978" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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O'Neill, W. M., Jr., Atkin, C. L., Bloomer, H. A.
|
|
<strong>Hereditary nephritis: a re-examination of its clinical and genetic features.</strong>
|
|
Ann. Intern. Med. 88: 176-182, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/626446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">626446</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=626446" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.7326/0003-4819-88-2-176" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Perkoff1958" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Perkoff, G. T., Nugent, C. A., Jr., Dolowitz, D. A., Stephens, F. E., Carnes, W. H., Tyler, F. H.
|
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<strong>A follow-up study of hereditary chronic nephritis.</strong>
|
|
Arch. Intern. Med. 102: 733-746, 1958.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13582260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13582260</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13582260" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archinte.1958.00260220049005" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Perkoff1951" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Perkoff, G. T., Stephens, F. E., Dolowitz, D. A., Tyler, F. H.
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<strong>A clinical study of hereditary interstitial pyelonephritis.</strong>
|
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Arch. Intern. Med. 88: 191-200, 1951.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14856448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14856448</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14856448" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archinte.1951.03810080059006" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Shaw1961" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shaw, R. F., Glover, R. A.
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<strong>Abnormal segregation in hereditary renal disease with deafness.</strong>
|
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Am. J. Hum. Genet. 13: 89-97, 1961.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17948465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17948465</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17948465" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="van der Loop2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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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.
|
|
<strong>Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.</strong>
|
|
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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</p>
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</ol>
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<div>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 7/10/2015
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - reorganized : 5/27/2010<br>Cassandra L. Kniffin - updated : 5/21/2010<br>Victor A. McKusick - updated : 7/11/2005<br>Victor A. McKusick - updated : 8/12/1999
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</span>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 10/06/2023
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 10/06/2023<br>alopez : 10/06/2023<br>carol : 02/01/2019<br>carol : 01/31/2019<br>alopez : 07/13/2015<br>alopez : 7/10/2015<br>alopez : 7/10/2015<br>alopez : 7/10/2015<br>alopez : 7/10/2015<br>ckniffin : 9/27/2010<br>carol : 5/27/2010<br>ckniffin : 5/21/2010<br>carol : 5/13/2010<br>carol : 3/24/2010<br>terry : 3/23/2010<br>terry : 2/3/2009<br>terry : 1/8/2009<br>terry : 1/7/2009<br>carol : 8/21/2007<br>ckniffin : 8/20/2007<br>wwang : 4/3/2007<br>alopez : 8/19/2005<br>alopez : 7/12/2005<br>terry : 7/11/2005<br>terry : 4/21/2005<br>mgross : 3/17/2004<br>terry : 11/6/2000<br>carol : 8/18/1999<br>terry : 8/12/1999<br>mgross : 6/22/1999<br>terry : 4/29/1999<br>alopez : 6/11/1998<br>joanna : 11/13/1997<br>joanna : 11/13/1997<br>terry : 11/6/1997<br>mark : 6/9/1995<br>davew : 8/18/1994<br>jason : 6/16/1994<br>carol : 6/9/1994<br>mimadm : 4/17/1994<br>carol : 10/14/1993
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</span>
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>#</strong> 104200
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<div>
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<h3>
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<span class="mim-font">
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ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT; ATS3A
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</h3>
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<p>
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 63, 88918;
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<strong>DO:</strong> 0110032;
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</span>
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<div>
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<br />
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<div>
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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 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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<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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</th>
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</tr>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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2q36.3
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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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Alport syndrome 3A, autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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104200
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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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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COL4A3
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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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120070
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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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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because autosomal dominant Alport syndrome-3A (ATS3A) is caused by heterozygous mutation in the COL4A3 gene (120070) on chromosome 2q36.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Alport syndrome classically comprises nephritis, often progressing to renal failure, and sensorineural hearing loss (Alport, 1927). </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 (ATS2, 203780; ATS3B, 620536); autosomal dominant inheritance is rare (van der Loop et al., 2000). </p><p>Also see benign familial hematuria (BFH; 141200), a similar but milder disorder also caused by mutation in the COL4A3 gene.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Jefferson et al. (1997) reported an Irish family with apparent autosomal dominant inheritance of Alport syndrome. The proband was a young man who presented with asymptomatic microhematuria and hypertension. His renal function deteriorated and he reached end-stage renal failure at age 35 years. He also had mild high-tone deafness. His father had a long history of microhematuria and hypertension, with documented renal failure before his death at age 68 years from myocardial infarction. Screening of other sibs of the proband showed 4 sisters and 1 brother with microhematuria and proteinuria. All had normal audiograms. The mother had no evidence of hematuria or renal dysfunction. Electron microscopy of affected individuals showed an irregular and thickened glomerular basement membrane, characteristic of Alport syndrome. </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 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. 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>Inheritance</strong>
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<p>Evans et al. (1980) reviewed the inheritance of Alport syndrome and noted that early reports of dominant inheritance (e.g., Shaw and Glover, 1961; Perkoff et al. (1951, 1958)) were later considered to be more consistent with X-linked dominant inheritance (O'Neill et al., 1978). However, Evans et al. (1980) noted the variation in inheritance patterns and reported a family with male-to-male transmission, suggesting genetic heterogeneity. </p><p>Feingold et al. (1985) also suggested that there is an autosomal dominant form of Alport syndrome. </p>
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<strong>Mapping</strong>
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<p>By linkage analysis of a family with apparent autosomal dominant inheritance of Alport syndrome, Jefferson et al. (1997) found linkage to a region on chromosome 2q in the vicinity of the COL4A3 and COL4A4 genes. However, no pathogenic mutations were identified by direct sequencing. The authors hypothesized that heterozygous mutations in these genes could result in a less severe phenotype than that of autosomal recessive Alport, which is caused by homozygous or compound heterozygous mutations in these genes. They also noted that heterozygous mutations in these genes result in benign familial hematuria (BFH; 141200), which does not result in renal failure. Jefferson et al. (1997) postulated that mutations in the type IV collagen genes can cause a spectrum of disease, ranging from BFH to autosomal dominant and recessive forms of Alport syndrome. Such a variation in clinical expression due to mutations in collagen genes is well recognized. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of a family with autosomal dominant Alport syndrome reported by Jefferson et al. (1997), van der Loop et al. (2000) identified a heterozygous mutation in the COL4A3 gene (120070.0009). The mutation resulted in a splice site mutation and a mutant protein with a deletion in the collagenous domain. The mutation was found in all 6 affected individuals and in none of 8 unaffected individuals. Since the noncollagenous domain remained intact, this mutant chain may be incorporated and distort the collagen triple helix, causing a dominant effect. The finding of a COL4A3 mutation in autosomal dominant Alport syndrome completed the broad spectrum of type IV collagen mutations, ranging from no effect at all and familial benign hematuria to mild autosomal dominant and severe autosomal recessive Alport syndrome. </p><p>In a mother and daughter with autosomal dominant Alport syndrome, Heidet et al. (2001) identified a heterozygous mutation in the COL4A3 gene (G1167R; 120070.0010). The daughter developed end-stage renal failure at age 23 years. Her mother had microscopic hematuria and proteinuria, but still had normal renal function at age 52 years, although renal biopsy showed thinning of and splitting of the glomerular basement membrane. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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<p class="mim-text-font">
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Alport, A. C.
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<strong>Hereditary familial congenital haemorrhagic nephritis.</strong>
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Brit. Med. J. 1: 504-506, 1927.
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[PubMed: 20773074]
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[Full Text: https://doi.org/10.1136/bmj.1.3454.504]
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<p class="mim-text-font">
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Evans, S. H., Erickson, R. P., Kelsch, R., Pierce, J. C.
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<strong>Apparently changing patterns of inheritance in Alport's hereditary nephritis: genetic heterogeneity versus altered diagnostic criteria.</strong>
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Clin. Genet. 17: 285-292, 1980.
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[PubMed: 7371220]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1980.tb00149.x]
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Feingold, J., Bois, E., Chompret, A., Broyer, M., Gubler, M.-C., Grunfeld, J.-P.
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<strong>Genetic heterogeneity of Alport syndrome.</strong>
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Kidney Int. 27: 672-677, 1985.
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[PubMed: 4010153]
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[Full Text: https://doi.org/10.1038/ki.1985.63]
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Heidet, L., Arrondel, C., Forestier, L., Cohen-Solal, L., Mollet, G., Gutierrez, B., Stavrou, C., Gubler, M. C., Antignac, C.
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<strong>Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.</strong>
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J. Am. Soc. Nephrol. 12: 97-106, 2001.
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[PubMed: 11134255]
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[Full Text: https://doi.org/10.1681/ASN.V12197]
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<p class="mim-text-font">
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Jefferson, J. A., Lemmink, H. H., Hughes, A. E., Hill, C. M., Smeets, H. J., Doherty, C. C., Maxwell, A. P.
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<strong>Autosomal dominant Alport syndrome linked to the type IV collagen alpha 3 and alpha 4 genes (COL4A3 and COL4A4).</strong>
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Nephrol. Dial. Transplant. 12: 1595-1599, 1997.
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[PubMed: 9269635]
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[Full Text: https://doi.org/10.1093/ndt/12.8.1595]
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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: 25575550]
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[Full Text: https://doi.org/10.1136/jmedgenet-2014-102822]
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<p class="mim-text-font">
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O'Neill, W. M., Jr., Atkin, C. L., Bloomer, H. A.
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<strong>Hereditary nephritis: a re-examination of its clinical and genetic features.</strong>
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Ann. Intern. Med. 88: 176-182, 1978.
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[PubMed: 626446]
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[Full Text: https://doi.org/10.7326/0003-4819-88-2-176]
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Perkoff, G. T., Nugent, C. A., Jr., Dolowitz, D. A., Stephens, F. E., Carnes, W. H., Tyler, F. H.
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<strong>A follow-up study of hereditary chronic nephritis.</strong>
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Arch. Intern. Med. 102: 733-746, 1958.
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[PubMed: 13582260]
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[Full Text: https://doi.org/10.1001/archinte.1958.00260220049005]
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Perkoff, G. T., Stephens, F. E., Dolowitz, D. A., Tyler, F. H.
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<strong>A clinical study of hereditary interstitial pyelonephritis.</strong>
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Arch. Intern. Med. 88: 191-200, 1951.
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[PubMed: 14856448]
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[Full Text: https://doi.org/10.1001/archinte.1951.03810080059006]
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Shaw, R. F., Glover, R. A.
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<strong>Abnormal segregation in hereditary renal disease with deafness.</strong>
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Am. J. Hum. Genet. 13: 89-97, 1961.
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[PubMed: 17948465]
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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: 11044206]
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[Full Text: https://doi.org/10.1111/j.1523-1755.2000.00358.x]
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Ada Hamosh - updated : 7/10/2015<br>Cassandra L. Kniffin - reorganized : 5/27/2010<br>Cassandra L. Kniffin - updated : 5/21/2010<br>Victor A. McKusick - updated : 7/11/2005<br>Victor A. McKusick - updated : 8/12/1999
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Victor A. McKusick : 6/4/1986
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