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Entry
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- #141200 - HEMATURIA, BENIGN FAMILIAL, 1; BFH1
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- OMIM
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<p>
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<span class="h4">#141200</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/141200"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS141200"> <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="#pathogenesis">Pathogenesis</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="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div><a href="https://clinicaltrials.gov/search?cond=(HEMATURIA, BENIGN FAMILIAL) OR (COL4A4)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/794" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/col4a4" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111365" 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/141200" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA002618/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111365" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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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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</span>
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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>SNOMEDCT:</strong> 236418003<br />
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<strong>DO:</strong> 0111365<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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141200
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</span>
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</span>
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</div>
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</div>
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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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HEMATURIA, BENIGN FAMILIAL, 1; BFH1
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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HEMATURIA, BENIGN FAMILIAL; BFH<br />
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THIN-BASEMENT-MEMBRANE NEPHROPATHY<br />
|
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THIN MEMBRANE NEPHROPATHY; TMN
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<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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</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">
|
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2q36.3
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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Hematuria, familial benign, 1
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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/141200"> 141200 </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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<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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</td>
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<td>
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<span class="mim-font">
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COL4A4
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/120131"> 120131 </a>
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</span>
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</td>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/141200" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS141200" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/141200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/141200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> GENITOURINARY </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Kidneys </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Hematuria, microscopic <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197940006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197940006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/599.72" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">599.72</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239937&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239937</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002907" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002907</a>]</span><br /> -
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Thin glomerular basement membrane <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276821&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276821</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012577</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012577</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset usually in childhood<br /> -
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Nonprogressive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/702322003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">702322003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3839460&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3839460</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003680</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003680</a>]</span><br /> -
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Does not result in renal failure<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the collagen, type IV, alpha-3 gene (COL4A3, <a href="/entry/120070#0007">120070.0007</a>)<br /> -
|
|
Caused by mutation in the collagen, type IV, alpha-3 gene (COL4A4, <a href="/entry/120131#0003">120131.0003</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div 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>
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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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Hematuria, benign familial
|
|
- <a href="/phenotypicSeries/PS141200">PS141200</a>
|
|
- 2 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
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|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
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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>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<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>
|
|
</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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|
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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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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/141200"> Hematuria, familial benign, 1 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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|
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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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|
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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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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/141200"> 141200 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120131"> COL4A4 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<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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|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
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|
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<a href="/geneMap/2/1071?start=-3&limit=10&highlight=1071"> 2q36.3 </a>
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|
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</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620320"> Hematuria, benign familial, 2 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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>
|
|
<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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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
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<a href="/entry/620320"> 620320 </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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</tbody>
|
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</table>
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</div>
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<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</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">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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|
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<span class="mim-font">
|
|
<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.">
|
|
<strong>TEXT</strong>
|
|
</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 of evidence that benign familial hematuria-1 (BFH1) is caused by heterozygous mutation in the COL4A4 (<a href="/entry/120131">120131</a>) gene 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">
|
|
<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>
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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
|
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<p>Benign familial hematuria (BFH) is an autosomal dominant condition manifest as nonprogressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane (GBM), and can be considered the mildest end of the spectrum of renal diseases due to type IV collagen defects of the basement membrane. The most severe end of the spectrum is represented by Alport syndrome (<a href="/entry/301050">301050</a>; <a href="/entry/203780">203780</a>, <a href="/entry/104200">104200</a>), which results in end-stage renal failure and may be associated with hearing loss and ocular anomalies (review by <a href="#5" class="mim-tip-reference" title="Lemmink, H. H., Nillesen, W. N., Mochizuki, T., Schroder, C. H., Brunner, H. G., van Oost, B. A., Monnens, L. A. H., Smeets, H. J. M. <strong>Benign familial hematuria due to mutation of the type IV collagen alpha-4 gene.</strong> J. Clin. Invest. 98: 1114-1118, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8787673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8787673</a>] [<a href="https://doi.org/10.1172/JCI118893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8787673">Lemmink et al. (1996)</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8787673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Benign Familial Hematuria</em></strong></p><p>
|
|
See also benign familial hematuria-2 (BFH2; <a href="/entry/620320">620320</a>), caused by mutation in the COL4A3 gene (<a href="/entry/120070">120070</a>).</p>
|
|
</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="#7" class="mim-tip-reference" title="McConville, J. M., West, C. D., McAdams, A. J. <strong>Familial and non-familial benign hematuria.</strong> J. Pediat. 69: 207-214, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5949931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5949931</a>] [<a href="https://doi.org/10.1016/s0022-3476(66)80321-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5949931">McConville et al. (1966)</a> described dominant inheritance of benign familial hematuria. A chemical test for hematuria, paper strips impregnated at one end with orthotoluidine which in the presence of hemoglobin is oxidized to yield a blue color, was used for diagnosis. Earlier reports have also referred to this condition (e.g., <a href="#6" class="mim-tip-reference" title="Livaditis, A., Ericsson, N. O. <strong>Essential hematuria in children: prognostic aspects.</strong> Acta Paediat. 51: 630-634, 1962."None>Livaditis and Ericsson, 1962</a>; <a href="#1" class="mim-tip-reference" title="Ayoub, E. M., Vernier, R. L. <strong>Benign recurrent hematuria.</strong> Am. J. Dis. Child. 109: 217-223, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14246067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14246067</a>] [<a href="https://doi.org/10.1001/archpedi.1965.02090020219004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14246067">Ayoub and Vernier, 1965</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5949931+14246067" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Lemmink, H. H., Nillesen, W. N., Mochizuki, T., Schroder, C. H., Brunner, H. G., van Oost, B. A., Monnens, L. A. H., Smeets, H. J. M. <strong>Benign familial hematuria due to mutation of the type IV collagen alpha-4 gene.</strong> J. Clin. Invest. 98: 1114-1118, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8787673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8787673</a>] [<a href="https://doi.org/10.1172/JCI118893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8787673">Lemmink et al. (1996)</a> reported a large family with BFH spanning 3 generations. The index patient, a member of the third generation, presented with hematuria at the age of 5 years. He was found to carry a heterozygous mutation in the COL4A4 gene (<a href="/entry/120131#0003">120131.0003</a>). Family history was negative for renal failure and deafness. Electron microscopy of a renal biopsy specimen from the proband showed regions with malformations of the GBM typical for Alport syndrome and regions that were thin. Microscopic hematuria was present in many relatives, including the 75-year-old paternal grandfather who had a normal serum creatinine concentration, indicating normal renal function. The family was complicated by the fact that the mother of the index case also had microscopic hematuria as did many of her relatives, although she did not have an identifiable mutation. The index patient, 16 years old at the time of the report, had developed proteinuria and may have inherited a COL4A4 gene mutation from both parents. <a href="#5" class="mim-tip-reference" title="Lemmink, H. H., Nillesen, W. N., Mochizuki, T., Schroder, C. H., Brunner, H. G., van Oost, B. A., Monnens, L. A. H., Smeets, H. J. M. <strong>Benign familial hematuria due to mutation of the type IV collagen alpha-4 gene.</strong> J. Clin. Invest. 98: 1114-1118, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8787673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8787673</a>] [<a href="https://doi.org/10.1172/JCI118893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8787673">Lemmink et al. (1996)</a> speculated that the presence of 2 mutations might account for the severe histologic changes in the GBM in the proband. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8787673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Badenas, C., Praga, M., Tazon, B., Heidet, L., Arrondel, C., Armengol, A., Andres, A., Morales. E., Camacho, J. A., Lens, X., Davila, S., Mila, M., Antignac, C., Darnell, A., Torra, R. <strong>Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria.</strong> J. Am. Soc. Nephrol. 13: 1248-1254, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11961012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11961012</a>] [<a href="https://doi.org/10.1681/ASN.V1351248" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11961012">Badenas et al. (2002)</a> reported 6 unrelated Spanish families with autosomal dominant benign familial hematuria, including 2 families with mutation in the COL4A4 gene. All had persistent or recurrent microscopic hematuria not associated with other abnormalities such as renal failure or deafness. At least 1 member of each family had undergone a renal biopsy with ultrastructural examination showing a thin glomerular basement membrane. None developed proteinuria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11961012" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of BFH1 in the families reported by <a href="#2" class="mim-tip-reference" title="Badenas, C., Praga, M., Tazon, B., Heidet, L., Arrondel, C., Armengol, A., Andres, A., Morales. E., Camacho, J. A., Lens, X., Davila, S., Mila, M., Antignac, C., Darnell, A., Torra, R. <strong>Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria.</strong> J. Am. Soc. Nephrol. 13: 1248-1254, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11961012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11961012</a>] [<a href="https://doi.org/10.1681/ASN.V1351248" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11961012">Badenas et al. (2002)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11961012" 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="#10" class="mim-tip-reference" title="Rogers, P. W., Kurtzman, N. A., Bunn, S. M., Jr., White, M. G. <strong>Familial benign essential hematuria.</strong> Arch. Intern. Med. 131: 257-262, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4682986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4682986</a>]" pmid="4682986">Rogers et al. (1973)</a> demonstrated a thin glomerular capillary basement membrane in affected individuals with benign familial hematuria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4682986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Yoshikawa, N., White, R. H. R., Cameron, A. H. <strong>Familial hematuria: clinico-pathological correlations.</strong> Clin. Nephrol. 17: 172-182, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7042145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7042145</a>]" pmid="7042145">Yoshikawa et al. (1982)</a> reported the pathologic findings of 38 patients with familial hematuria, including those with Alport syndrome. The most common abnormality on electron microscopy, found in 27 of 31 biopsies, was complex replication of the lamina densa of the capillary basement membrane to form a 'basket weave' pattern. These changes could be seen in children under age 5 years. If neurosensory deafness or heavy proteinuria was present, the patient generally ran a progressive clinical course and fell within the spectrum of Alport syndrome. In contrast, patients from families without deafness, heavy proteinuria, or chronic renal failure showed a nonprogressive course consistent with benign familial hematuria. Their biopsies showed little or no glomerular changes other than attenuation of the lamina densa on electron microscopy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7042145" 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="#8" class="mim-tip-reference" title="Piel, C. F., Biava, C. G., Goodman, J. R. <strong>Glomerular basement membrane attenuation in familial nephritis and 'benign' hematuria.</strong> J. Pediat. 101: 358-365, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7108656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7108656</a>] [<a href="https://doi.org/10.1016/s0022-3476(82)80058-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7108656">Piel et al. (1982)</a> reviewed the electron microscopic renal biopsy findings in 57 children with persistent hematuria, including 20 with familial nephritis, 20 with familial hematuria, and 17 with sporadic hematuria. All had either attenuation of the glomerular basement membrane, with or without additional lamination of the basement membrane. On follow-up, end-stage renal disease developed in 5 children, and only 2 of 28 no longer had hematuria. <a href="#8" class="mim-tip-reference" title="Piel, C. F., Biava, C. G., Goodman, J. R. <strong>Glomerular basement membrane attenuation in familial nephritis and 'benign' hematuria.</strong> J. Pediat. 101: 358-365, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7108656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7108656</a>] [<a href="https://doi.org/10.1016/s0022-3476(82)80058-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7108656">Piel et al. (1982)</a> concluded that familial nephritis and familial 'benign' hematuria may be one disorder, or at least 'a spectrum of inherited abnormality or abnormalities in the formation of the glomerular capillary basement membrane,' with variable severity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7108656" 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="Dische, F. E., Weston, M. J., Parsons, V. <strong>Abnormally thin glomerular basement membranes associated with hematuria, proteinuria or renal failure in adults.</strong> Am. J. Nephrol. 5: 103-109, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3887920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3887920</a>] [<a href="https://doi.org/10.1159/000166914" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3887920">Dische et al. (1985)</a> described 12 patients with thin-basement-membrane nephropathy, 3 of whom had progressive renal disease, with end-stage renal failure in 1. Further study of these patients would be required to determine whether the disorder was indeed benign. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3887920" 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="#12" class="mim-tip-reference" title="Yoshikawa, N., Matsuyama, S., Iijima, K., Maehara, K., Okada, S., Matsuo, T. <strong>Benign familial hematuria.</strong> Arch. Path. Lab. Med. 112: 794-797, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3395216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3395216</a>]" pmid="3395216">Yoshikawa et al. (1988)</a> studied 50 children with benign familial hematuria from 43 families; all had a nonprogressive course and none had deafness, heavy proteinuria, or chronic renal failure. Although benign familial hematuria is probably heterogeneous, widespread thinning of the glomerular basement membrane (GBM) was considered to be related to the hematuria. <a href="#12" class="mim-tip-reference" title="Yoshikawa, N., Matsuyama, S., Iijima, K., Maehara, K., Okada, S., Matsuo, T. <strong>Benign familial hematuria.</strong> Arch. Path. Lab. Med. 112: 794-797, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3395216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3395216</a>]" pmid="3395216">Yoshikawa et al. (1988)</a> found widespread attenuation of the GBM in 19 patients, focal attenuation in 22, and normal GBM in 9. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3395216" 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="#11" class="mim-tip-reference" title="Tiebosch, A. T. M. G., Frederik, P. M., van Breda Vriesman, P. J. C., Mooy, J. M. V., van Rie, H., van de Wiel, T. W. M., Wolters, J., Zeppenfeldt, E. <strong>Thin-basement-membrane nephropathy in adults with persistent hematuria.</strong> New Eng. J. Med. 320: 14-18, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2909874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2909874</a>] [<a href="https://doi.org/10.1056/NEJM198901053200103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2909874">Tiebosch et al. (1989)</a>, who referred to the condition as 'thin-basement-membrane nephropathy,' performed renal biopsy in 80 normotensive adults without azotemia but 26 of whom had recurrent macroscopic hematuria and 54 had persistent microscopic hematuria. In 42 patients, renal tissue was normal when examined by light microscopy. Electron microscopy showed thin-basement-membrane nephropathy in 18; all but 1 of these 18 patients had microscopic hematuria which persisted during the follow-up for a median duration of 50 months. Thus, 17 of 54 patients with microscopic hematuria (31%) had thin-basement-membrane nephropathy. <a href="#11" class="mim-tip-reference" title="Tiebosch, A. T. M. G., Frederik, P. M., van Breda Vriesman, P. J. C., Mooy, J. M. V., van Rie, H., van de Wiel, T. W. M., Wolters, J., Zeppenfeldt, E. <strong>Thin-basement-membrane nephropathy in adults with persistent hematuria.</strong> New Eng. J. Med. 320: 14-18, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2909874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2909874</a>] [<a href="https://doi.org/10.1056/NEJM198901053200103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2909874">Tiebosch et al. (1989)</a> noted that thin-basement-membrane nephropathy has about the same incidence as idiopathic IgA nephropathy (<a href="/entry/161950">161950</a>) among patients with persistent microscopic hematuria. Although they commented on the 'frequently familial' nature of the disorder, no family data were presented. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2909874" 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="#5" class="mim-tip-reference" title="Lemmink, H. H., Nillesen, W. N., Mochizuki, T., Schroder, C. H., Brunner, H. G., van Oost, B. A., Monnens, L. A. H., Smeets, H. J. M. <strong>Benign familial hematuria due to mutation of the type IV collagen alpha-4 gene.</strong> J. Clin. Invest. 98: 1114-1118, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8787673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8787673</a>] [<a href="https://doi.org/10.1172/JCI118893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8787673">Lemmink et al. (1996)</a> demonstrated linkage of BFH to the COL4A3 and COL4A4 genes at chromosome 2q35-q37. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8787673" 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 large family segregating BFH, <a href="#5" class="mim-tip-reference" title="Lemmink, H. H., Nillesen, W. N., Mochizuki, T., Schroder, C. H., Brunner, H. G., van Oost, B. A., Monnens, L. A. H., Smeets, H. J. M. <strong>Benign familial hematuria due to mutation of the type IV collagen alpha-4 gene.</strong> J. Clin. Invest. 98: 1114-1118, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8787673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8787673</a>] [<a href="https://doi.org/10.1172/JCI118893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8787673">Lemmink et al. (1996)</a> identified a heterozygous mutation in the COL4A4 gene (G897E; <a href="/entry/120131#0003">120131.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8787673" 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 affected members of 6 (60%) of 10 unrelated Spanish families with benign familial hematuria, <a href="#2" class="mim-tip-reference" title="Badenas, C., Praga, M., Tazon, B., Heidet, L., Arrondel, C., Armengol, A., Andres, A., Morales. E., Camacho, J. A., Lens, X., Davila, S., Mila, M., Antignac, C., Darnell, A., Torra, R. <strong>Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria.</strong> J. Am. Soc. Nephrol. 13: 1248-1254, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11961012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11961012</a>] [<a href="https://doi.org/10.1681/ASN.V1351248" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11961012">Badenas et al. (2002)</a> identified 4 different heterozygous mutations in the COL4A4 gene (see, e.g., <a href="/entry/120131#0007">120131.0007</a> and <a href="/entry/120131#0008">120131.0008</a>) and 2 different heterozygous mutations in the COL4A3 gene: G1015E (<a href="/entry/120070#0007">120070.0007</a>) and G985V (<a href="/entry/120070#0008">120070.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11961012" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Hudson2003" class="mim-tip-reference" title="Hudson, B. G., Tryggvason, K., Sundaramoorthy, M., Neilson, E. G. <strong>Alport's syndrome, Goodpasture's syndrome, and type IV collagen.</strong> New Eng. J. Med. 348: 2543-2556, 2003.">Hudson et al. (2003)</a>; <a href="#Reyersbach1954" class="mim-tip-reference" title="Reyersbach, G. C., Butler, A. M. <strong>Congenital hereditary hematuria.</strong> New Eng. J. Med. 251: 377-380, 1954.">Reyersbach and Butler (1954)</a>
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<a id="1" class="mim-anchor"></a>
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<a id="Ayoub1965" class="mim-anchor"></a>
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Ayoub, E. M., Vernier, R. L.
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<strong>Benign recurrent hematuria.</strong>
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Am. J. Dis. Child. 109: 217-223, 1965.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14246067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14246067</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14246067" 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/archpedi.1965.02090020219004" target="_blank">Full Text</a>]
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Badenas, C., Praga, M., Tazon, B., Heidet, L., Arrondel, C., Armengol, A., Andres, A., Morales. E., Camacho, J. A., Lens, X., Davila, S., Mila, M., Antignac, C., Darnell, A., Torra, R.
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<strong>Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria.</strong>
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J. Am. Soc. Nephrol. 13: 1248-1254, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11961012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11961012</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11961012" 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.V1351248" target="_blank">Full Text</a>]
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<a id="Dische1985" class="mim-anchor"></a>
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Dische, F. E., Weston, M. J., Parsons, V.
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<strong>Abnormally thin glomerular basement membranes associated with hematuria, proteinuria or renal failure in adults.</strong>
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|
Am. J. Nephrol. 5: 103-109, 1985.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3887920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3887920</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3887920" 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/10.1159/000166914" target="_blank">Full Text</a>]
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Hudson, B. G., Tryggvason, K., Sundaramoorthy, M., Neilson, E. G.
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<strong>Alport's syndrome, Goodpasture's syndrome, and type IV collagen.</strong>
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New Eng. J. Med. 348: 2543-2556, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12815141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12815141</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12815141" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJMra022296" target="_blank">Full Text</a>]
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Lemmink, H. H., Nillesen, W. N., Mochizuki, T., Schroder, C. H., Brunner, H. G., van Oost, B. A., Monnens, L. A. H., Smeets, H. J. M.
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<strong>Benign familial hematuria due to mutation of the type IV collagen alpha-4 gene.</strong>
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J. Clin. Invest. 98: 1114-1118, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8787673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8787673</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8787673" 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/10.1172/JCI118893" target="_blank">Full Text</a>]
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Livaditis, A., Ericsson, N. O.
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<strong>Essential hematuria in children: prognostic aspects.</strong>
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Acta Paediat. 51: 630-634, 1962.
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McConville, J. M., West, C. D., McAdams, A. J.
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<strong>Familial and non-familial benign hematuria.</strong>
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J. Pediat. 69: 207-214, 1966.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5949931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5949931</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5949931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(66)80321-9" target="_blank">Full Text</a>]
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Piel, C. F., Biava, C. G., Goodman, J. R.
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<strong>Glomerular basement membrane attenuation in familial nephritis and 'benign' hematuria.</strong>
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|
J. Pediat. 101: 358-365, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7108656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7108656</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7108656" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(82)80058-9" target="_blank">Full Text</a>]
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Reyersbach, G. C., Butler, A. M.
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<strong>Congenital hereditary hematuria.</strong>
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New Eng. J. Med. 251: 377-380, 1954.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13194078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13194078</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13194078" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM195409022511003" target="_blank">Full Text</a>]
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Rogers, P. W., Kurtzman, N. A., Bunn, S. M., Jr., White, M. G.
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<strong>Familial benign essential hematuria.</strong>
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Arch. Intern. Med. 131: 257-262, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4682986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4682986</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4682986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Tiebosch, A. T. M. G., Frederik, P. M., van Breda Vriesman, P. J. C., Mooy, J. M. V., van Rie, H., van de Wiel, T. W. M., Wolters, J., Zeppenfeldt, E.
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<strong>Thin-basement-membrane nephropathy in adults with persistent hematuria.</strong>
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New Eng. J. Med. 320: 14-18, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2909874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2909874</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2909874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM198901053200103" target="_blank">Full Text</a>]
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Yoshikawa, N., Matsuyama, S., Iijima, K., Maehara, K., Okada, S., Matsuo, T.
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<strong>Benign familial hematuria.</strong>
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Arch. Path. Lab. Med. 112: 794-797, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3395216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3395216</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3395216" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Yoshikawa, N., White, R. H. R., Cameron, A. H.
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<strong>Familial hematuria: clinico-pathological correlations.</strong>
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Clin. Nephrol. 17: 172-182, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7042145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7042145</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7042145" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Carol A. Bocchini - updated : 04/12/2023
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Cassandra L. Kniffin - reorganized : 5/27/2010<br>Cassandra L. Kniffin - updated : 5/21/2010<br>Victor A. McKusick - updated : 7/1/2003
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Creation Date:
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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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carol : 04/28/2023
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carol : 04/12/2023<br>carol : 04/12/2023<br>carol : 06/21/2016<br>carol : 5/27/2010<br>ckniffin : 5/21/2010<br>alopez : 7/7/2003<br>terry : 7/1/2003<br>mark : 10/17/1996<br>mark : 10/9/1996<br>mimadm : 9/24/1994<br>supermim : 3/16/1992<br>carol : 3/14/1991<br>carol : 7/2/1990<br>carol : 6/29/1990<br>supermim : 3/20/1990
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<strong>#</strong> 141200
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<h3>
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HEMATURIA, BENIGN FAMILIAL, 1; BFH1
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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HEMATURIA, BENIGN FAMILIAL; BFH<br />
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THIN-BASEMENT-MEMBRANE NEPHROPATHY<br />
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THIN MEMBRANE NEPHROPATHY; TMN
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<strong>SNOMEDCT:</strong> 236418003;
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<strong>DO:</strong> 0111365;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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2q36.3
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<span class="mim-font">
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Hematuria, familial benign, 1
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<span class="mim-font">
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141200
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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COL4A4
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<span class="mim-font">
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120131
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that benign familial hematuria-1 (BFH1) is caused by heterozygous mutation in the COL4A4 (120131) gene on chromosome 2q36.</p>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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<span class="mim-text-font">
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<p>Benign familial hematuria (BFH) is an autosomal dominant condition manifest as nonprogressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane (GBM), and can be considered the mildest end of the spectrum of renal diseases due to type IV collagen defects of the basement membrane. The most severe end of the spectrum is represented by Alport syndrome (301050; 203780, 104200), which results in end-stage renal failure and may be associated with hearing loss and ocular anomalies (review by Lemmink et al. (1996)). </p><p><strong><em>Genetic Heterogeneity of Benign Familial Hematuria</em></strong></p><p>
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See also benign familial hematuria-2 (BFH2; 620320), caused by mutation in the COL4A3 gene (120070).</p>
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</span>
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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 class="mim-text-font">
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<p>McConville et al. (1966) described dominant inheritance of benign familial hematuria. A chemical test for hematuria, paper strips impregnated at one end with orthotoluidine which in the presence of hemoglobin is oxidized to yield a blue color, was used for diagnosis. Earlier reports have also referred to this condition (e.g., Livaditis and Ericsson, 1962; Ayoub and Vernier, 1965). </p><p>Lemmink et al. (1996) reported a large family with BFH spanning 3 generations. The index patient, a member of the third generation, presented with hematuria at the age of 5 years. He was found to carry a heterozygous mutation in the COL4A4 gene (120131.0003). Family history was negative for renal failure and deafness. Electron microscopy of a renal biopsy specimen from the proband showed regions with malformations of the GBM typical for Alport syndrome and regions that were thin. Microscopic hematuria was present in many relatives, including the 75-year-old paternal grandfather who had a normal serum creatinine concentration, indicating normal renal function. The family was complicated by the fact that the mother of the index case also had microscopic hematuria as did many of her relatives, although she did not have an identifiable mutation. The index patient, 16 years old at the time of the report, had developed proteinuria and may have inherited a COL4A4 gene mutation from both parents. Lemmink et al. (1996) speculated that the presence of 2 mutations might account for the severe histologic changes in the GBM in the proband. </p><p>Badenas et al. (2002) reported 6 unrelated Spanish families with autosomal dominant benign familial hematuria, including 2 families with mutation in the COL4A4 gene. All had persistent or recurrent microscopic hematuria not associated with other abnormalities such as renal failure or deafness. At least 1 member of each family had undergone a renal biopsy with ultrastructural examination showing a thin glomerular basement membrane. None developed proteinuria. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</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>The transmission pattern of BFH1 in the families reported by Badenas et al. (2002) was consistent with autosomal dominant inheritance. </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>Pathogenesis</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>Rogers et al. (1973) demonstrated a thin glomerular capillary basement membrane in affected individuals with benign familial hematuria. </p><p>Yoshikawa et al. (1982) reported the pathologic findings of 38 patients with familial hematuria, including those with Alport syndrome. The most common abnormality on electron microscopy, found in 27 of 31 biopsies, was complex replication of the lamina densa of the capillary basement membrane to form a 'basket weave' pattern. These changes could be seen in children under age 5 years. If neurosensory deafness or heavy proteinuria was present, the patient generally ran a progressive clinical course and fell within the spectrum of Alport syndrome. In contrast, patients from families without deafness, heavy proteinuria, or chronic renal failure showed a nonprogressive course consistent with benign familial hematuria. Their biopsies showed little or no glomerular changes other than attenuation of the lamina densa on electron microscopy. </p><p>Piel et al. (1982) reviewed the electron microscopic renal biopsy findings in 57 children with persistent hematuria, including 20 with familial nephritis, 20 with familial hematuria, and 17 with sporadic hematuria. All had either attenuation of the glomerular basement membrane, with or without additional lamination of the basement membrane. On follow-up, end-stage renal disease developed in 5 children, and only 2 of 28 no longer had hematuria. Piel et al. (1982) concluded that familial nephritis and familial 'benign' hematuria may be one disorder, or at least 'a spectrum of inherited abnormality or abnormalities in the formation of the glomerular capillary basement membrane,' with variable severity. </p><p>Dische et al. (1985) described 12 patients with thin-basement-membrane nephropathy, 3 of whom had progressive renal disease, with end-stage renal failure in 1. Further study of these patients would be required to determine whether the disorder was indeed benign. </p><p>Yoshikawa et al. (1988) studied 50 children with benign familial hematuria from 43 families; all had a nonprogressive course and none had deafness, heavy proteinuria, or chronic renal failure. Although benign familial hematuria is probably heterogeneous, widespread thinning of the glomerular basement membrane (GBM) was considered to be related to the hematuria. Yoshikawa et al. (1988) found widespread attenuation of the GBM in 19 patients, focal attenuation in 22, and normal GBM in 9. </p><p>Tiebosch et al. (1989), who referred to the condition as 'thin-basement-membrane nephropathy,' performed renal biopsy in 80 normotensive adults without azotemia but 26 of whom had recurrent macroscopic hematuria and 54 had persistent microscopic hematuria. In 42 patients, renal tissue was normal when examined by light microscopy. Electron microscopy showed thin-basement-membrane nephropathy in 18; all but 1 of these 18 patients had microscopic hematuria which persisted during the follow-up for a median duration of 50 months. Thus, 17 of 54 patients with microscopic hematuria (31%) had thin-basement-membrane nephropathy. Tiebosch et al. (1989) noted that thin-basement-membrane nephropathy has about the same incidence as idiopathic IgA nephropathy (161950) among patients with persistent microscopic hematuria. Although they commented on the 'frequently familial' nature of the disorder, no family data were presented. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Lemmink et al. (1996) demonstrated linkage of BFH to the COL4A3 and COL4A4 genes at chromosome 2q35-q37. </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>Molecular Genetics</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>In affected members of a large family segregating BFH, Lemmink et al. (1996) identified a heterozygous mutation in the COL4A4 gene (G897E; 120131.0003). </p><p>In affected members of 6 (60%) of 10 unrelated Spanish families with benign familial hematuria, Badenas et al. (2002) identified 4 different heterozygous mutations in the COL4A4 gene (see, e.g., 120131.0007 and 120131.0008) and 2 different heterozygous mutations in the COL4A3 gene: G1015E (120070.0007) and G985V (120070.0008). </p>
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</span>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Hudson et al. (2003); Reyersbach and Butler (1954)
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Ayoub, E. M., Vernier, R. L.
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<strong>Benign recurrent hematuria.</strong>
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Am. J. Dis. Child. 109: 217-223, 1965.
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[PubMed: 14246067]
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[Full Text: https://doi.org/10.1001/archpedi.1965.02090020219004]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Badenas, C., Praga, M., Tazon, B., Heidet, L., Arrondel, C., Armengol, A., Andres, A., Morales. E., Camacho, J. A., Lens, X., Davila, S., Mila, M., Antignac, C., Darnell, A., Torra, R.
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<strong>Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria.</strong>
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J. Am. Soc. Nephrol. 13: 1248-1254, 2002.
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[PubMed: 11961012]
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[Full Text: https://doi.org/10.1681/ASN.V1351248]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Dische, F. E., Weston, M. J., Parsons, V.
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<strong>Abnormally thin glomerular basement membranes associated with hematuria, proteinuria or renal failure in adults.</strong>
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Am. J. Nephrol. 5: 103-109, 1985.
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[PubMed: 3887920]
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[Full Text: https://doi.org/10.1159/000166914]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hudson, B. G., Tryggvason, K., Sundaramoorthy, M., Neilson, E. G.
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<strong>Alport's syndrome, Goodpasture's syndrome, and type IV collagen.</strong>
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New Eng. J. Med. 348: 2543-2556, 2003.
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[PubMed: 12815141]
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[Full Text: https://doi.org/10.1056/NEJMra022296]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lemmink, H. H., Nillesen, W. N., Mochizuki, T., Schroder, C. H., Brunner, H. G., van Oost, B. A., Monnens, L. A. H., Smeets, H. J. M.
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<strong>Benign familial hematuria due to mutation of the type IV collagen alpha-4 gene.</strong>
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J. Clin. Invest. 98: 1114-1118, 1996.
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[PubMed: 8787673]
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[Full Text: https://doi.org/10.1172/JCI118893]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Livaditis, A., Ericsson, N. O.
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<strong>Essential hematuria in children: prognostic aspects.</strong>
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Acta Paediat. 51: 630-634, 1962.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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McConville, J. M., West, C. D., McAdams, A. J.
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<strong>Familial and non-familial benign hematuria.</strong>
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J. Pediat. 69: 207-214, 1966.
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[PubMed: 5949931]
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[Full Text: https://doi.org/10.1016/s0022-3476(66)80321-9]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Piel, C. F., Biava, C. G., Goodman, J. R.
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<strong>Glomerular basement membrane attenuation in familial nephritis and 'benign' hematuria.</strong>
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J. Pediat. 101: 358-365, 1982.
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[PubMed: 7108656]
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[Full Text: https://doi.org/10.1016/s0022-3476(82)80058-9]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Reyersbach, G. C., Butler, A. M.
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<strong>Congenital hereditary hematuria.</strong>
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New Eng. J. Med. 251: 377-380, 1954.
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[PubMed: 13194078]
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[Full Text: https://doi.org/10.1056/NEJM195409022511003]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Rogers, P. W., Kurtzman, N. A., Bunn, S. M., Jr., White, M. G.
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<strong>Familial benign essential hematuria.</strong>
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Arch. Intern. Med. 131: 257-262, 1973.
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[PubMed: 4682986]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Tiebosch, A. T. M. G., Frederik, P. M., van Breda Vriesman, P. J. C., Mooy, J. M. V., van Rie, H., van de Wiel, T. W. M., Wolters, J., Zeppenfeldt, E.
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<strong>Thin-basement-membrane nephropathy in adults with persistent hematuria.</strong>
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New Eng. J. Med. 320: 14-18, 1989.
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[PubMed: 2909874]
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[Full Text: https://doi.org/10.1056/NEJM198901053200103]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Yoshikawa, N., Matsuyama, S., Iijima, K., Maehara, K., Okada, S., Matsuo, T.
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<strong>Benign familial hematuria.</strong>
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Arch. Path. Lab. Med. 112: 794-797, 1988.
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[PubMed: 3395216]
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</p>
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<li>
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<p class="mim-text-font">
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Yoshikawa, N., White, R. H. R., Cameron, A. H.
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<strong>Familial hematuria: clinico-pathological correlations.</strong>
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Clin. Nephrol. 17: 172-182, 1982.
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[PubMed: 7042145]
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Carol A. Bocchini - updated : 04/12/2023<br>Cassandra L. Kniffin - reorganized : 5/27/2010<br>Cassandra L. Kniffin - updated : 5/21/2010<br>Victor A. McKusick - updated : 7/1/2003
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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carol : 04/28/2023<br>carol : 04/12/2023<br>carol : 04/12/2023<br>carol : 06/21/2016<br>carol : 5/27/2010<br>ckniffin : 5/21/2010<br>alopez : 7/7/2003<br>terry : 7/1/2003<br>mark : 10/17/1996<br>mark : 10/9/1996<br>mimadm : 9/24/1994<br>supermim : 3/16/1992<br>carol : 3/14/1991<br>carol : 7/2/1990<br>carol : 6/29/1990<br>supermim : 3/20/1990
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