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Entry
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- #301050 - ALPORT SYNDROME 1, X-LINKED; ATS1
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- OMIM
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<p>
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<span class="h4">#301050</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/301050"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS301050"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#otherFeatures">Other Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#history">History</a>
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<a href="#animalModel">Animal Model</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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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=ALPORT SYNDROME 1, X-LINKED" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=630&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Alport syndrome </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11849&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">X-linked Alport syndrome </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1207/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/335" 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/condition/alport-syndrome" 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><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=301050[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=63" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Alport syndrome</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=88917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">X-linked Alport syndrome</a></div>
|
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</div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/dde4abc0-d81b-4ee3-a555-f280c71c3911/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110034" 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/301050" 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/OMIA001112/" 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:0110034" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:301050" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</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>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 717768004<br />
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<strong>ORPHA:</strong> 63, 88917<br />
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<strong>DO:</strong> 0110034<br />
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">ICD+</a>
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</div>
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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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301050
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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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ALPORT SYNDROME 1, X-LINKED; ATS1
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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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<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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ATS<br />
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NEPHROPATHY AND DEAFNESS, X-LINKED
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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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<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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</tr>
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</thead>
|
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<tbody>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/geneMap/X/560?start=-3&limit=10&highlight=560">
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Xq22.3
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</a>
|
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</span>
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</td>
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<td>
|
|
<span class="mim-font">
|
|
Alport syndrome 1, X-linked
|
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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/301050"> 301050 </a>
|
|
</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="X-linked dominant">XLD</abbr>
|
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|
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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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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
COL4A5
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/303630"> 303630 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
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</tbody>
|
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</table>
|
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</div>
|
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</div>
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<div>
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/301050" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
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|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS301050" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
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|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/301050" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/301050" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
|
<p />
|
|
</div>
|
|
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|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked dominant <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847879&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847879</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
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|
|
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|
|
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Deafness, sensorineural, especially affecting high frequencies (in about 55% of males and 45% of females) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278310</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Anterior lenticonus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95480008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95480008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344262&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344262</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011501" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011501</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011501" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011501</a>]</span><br /> -
|
|
Lens opacities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193570009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1510497&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1510497</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br /> -
|
|
Cataracts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193570009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247053007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247053007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95722004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95722004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086543</a>, <a href="https://bioportal.bioontology.org/search?q=C0521707&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521707</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br /> -
|
|
Myopia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57190000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57190000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H52.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H52.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/367.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">367.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027092&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027092</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</a>]</span><br /> -
|
|
Pigmentary changes ('flecks') in the perimacular region <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277882&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277882</a>]</span><br /> -
|
|
Corneal endothelial vesicles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277883&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277883</a>]</span><br /> -
|
|
Corneal erosions <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50792001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50792001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392163&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392163</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200020</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypertension <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38341003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38341003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/401-405.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">401-405.99</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/997.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">997.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
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|
|
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Glomerulonephropathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197679002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197679002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N00-N08" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N00-N08</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N05" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N05</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0268731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100820" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100820</a>]</span><br /> -
|
|
End-stage renal failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90688005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90688005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46177005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46177005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/433146000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">433146000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/585.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">585.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022661&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022661</a>, <a href="https://bioportal.bioontology.org/search?q=C2316810&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2316810</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003774</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003774</a>]</span><br /> -
|
|
Thinning of the glomerular basement membrane (early in the disease) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278304&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278304</a>]</span><br /> -
|
|
Thickening of the glomerular basement membrane (later in the disease) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278305</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/264932002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">264932002</a>]</span><br /> -
|
|
Splitting of the glomerular basement membrane <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278306&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278306</a>]</span><br /> -
|
|
Diffuse lamellation of the glomerular basement membrane <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278307&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278307</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
</div>
|
|
|
|
</div>
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hematuria, gross and microscopic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278303&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278303</a>]</span><br /> -
|
|
Proteinuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29738008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29738008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/231860006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">231860006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1279888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279888</a>, <a href="https://bioportal.bioontology.org/search?q=C0033687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033687</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span><br /> -
|
|
Nephrotic syndrome <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52254009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52254009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">581</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027726&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027726</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000100</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000100</a>]</span><br />
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</span>
|
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</div>
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|
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</div>
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Males more severely affected than females<br /> -
|
|
Affected males show onset of hematuria in first year of life<br /> -
|
|
Progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span><br /> -
|
|
Hearing loss occurs in late childhood<br /> -
|
|
Female carriers may show intermittent hematuria<br /> -
|
|
About 15% of female carriers develop renal insufficiency in the second or third decade<br /> -
|
|
About 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis<br /> -
|
|
Estimated gene carrier frequency of 1 in 5,000<br /> -
|
|
Genetic heterogeneity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the collagen, type IV, alpha-5 gene (COL4A5, <a href="/entry/303630#0001">303630.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
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|
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</div>
|
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|
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</div>
|
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|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
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|
|
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|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
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|
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|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Alport syndrome
|
|
- <a href="/phenotypicSeries/PS301050">PS301050</a>
|
|
- 4 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1070?start=-3&limit=10&highlight=1070"> 2q36.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/203780"> Alport syndrome 2, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/203780"> 203780 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120131"> COL4A4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120131"> 120131 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1071?start=-3&limit=10&highlight=1071"> 2q36.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620536"> Alport syndrome 3B, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620536"> 620536 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120070"> COL4A3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120070"> 120070 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1071?start=-3&limit=10&highlight=1071"> 2q36.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/104200"> Alport syndrome 3A, autosomal dominant </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/104200"> 104200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120070"> COL4A3 </a>
|
|
</span>
|
|
</td>
|
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<p>A number sign (#) is used with this entry because X-linked Alport syndrome-1 (ATS1) is caused by mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5; <a href="/entry/303630">303630</a>) on Xq22.</p>
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<p>Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and variable ocular anomalies (review by <a href="#43" class="mim-tip-reference" title="Kashtan, C. E. <strong>Alport syndrome: an inherited disorder of renal, ocular, and cochlear basement membranes.</strong> Medicine 78: 338-360, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10499074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10499074</a>] [<a href="https://doi.org/10.1097/00005792-199909000-00005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10499074">Kashtan, 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10499074" 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 Alport Syndrome</em></strong></p><p>
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Alport syndrome is a genetically heterogeneous disorder, with all forms resulting from mutations in genes encoding type IV collagen, which is a major structural component of the basement membrane. Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive (ATS2, <a href="/entry/203780">203780</a>; ATS3B, <a href="/entry/620536">620536</a>); autosomal dominant inheritance (ATS3A; <a href="/entry/104200">104200</a>) is rare (<a href="#43" class="mim-tip-reference" title="Kashtan, C. E. <strong>Alport syndrome: an inherited disorder of renal, ocular, and cochlear basement membranes.</strong> Medicine 78: 338-360, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10499074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10499074</a>] [<a href="https://doi.org/10.1097/00005792-199909000-00005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10499074">Kashtan, 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10499074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>See also benign familial hematuria (BFH; <a href="/entry/141200">141200</a>), a phenotypically similar, but milder disorder.</p><p>Alport syndrome is also a feature of 2 contiguous gene deletion syndromes involving the COL4A5 gene: Alport syndrome and diffuse leiomyomatosis (<a href="/entry/308940">308940</a>) and Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME; <a href="/entry/300194">300194</a>).</p>
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<p><a href="#1" class="mim-tip-reference" title="Alport, A. C. <strong>Hereditary familial congenital haemorrhagic nephritis.</strong> Brit. Med. J. 1: 504-506, 1927.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20773074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20773074</a>] [<a href="https://doi.org/10.1136/bmj.1.3454.504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20773074">Alport (1927)</a> reported a family in which affected individuals showed progressive renal disease with hematuria and deafness. Affected males died early of uremia, while females lived to old age. The report of <a href="#1" class="mim-tip-reference" title="Alport, A. C. <strong>Hereditary familial congenital haemorrhagic nephritis.</strong> Brit. Med. J. 1: 504-506, 1927.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20773074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20773074</a>] [<a href="https://doi.org/10.1136/bmj.1.3454.504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20773074">Alport (1927)</a> was the fourth concerning a single pedigree that was also studied by <a href="#33" class="mim-tip-reference" title="Guthrie, L. B. <strong>'Idiopathic,' or congenital, hereditary and family haematuria.</strong> Lancet 159: 1243-1246, 1902. Note: Originally Volume I."None>Guthrie (1902)</a>, <a href="#45" class="mim-tip-reference" title="Kendall, G., Hertz, A. F. <strong>Hereditary familial congenital hemorrhagic nephritis.</strong> Guys Hosp. Rep. 66: 137-141, 1912."None>Kendall and Hertz, 1912</a>, and <a href="#38" class="mim-tip-reference" title="Hurst, A. F. <strong>Hereditary familial congenital haemorrhagic nephritis: occurring in sixteen individuals in three generations.</strong> Guys Hosp. Rep. 3: 368-370, 1923."None>Hurst (1923)</a> (review by <a href="#15" class="mim-tip-reference" title="Cohen, M. M., Cassady, G., Hanna, B. L. <strong>A genetic study of hereditary renal dysfunction with associated nerve deafness.</strong> Am. J. Hum. Genet. 13: 379-389, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13880289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13880289</a>]" pmid="13880289">Cohen et al., 1961</a>). The renal disease became evident as recurrent microscopic or gross hematuria as early as childhood, earlier in males than in females. Progression to renal failure was gradual and usually occurred in males by the fifth decade. The renal histology was nonspecific; both glomerular and interstitial abnormalities, including foam cells, were observed. Although initially reported as a dominant trait with possible partial sex-linkage, it later became apparent that this was an X-linked dominant condition (<a href="#15" class="mim-tip-reference" title="Cohen, M. M., Cassady, G., Hanna, B. L. <strong>A genetic study of hereditary renal dysfunction with associated nerve deafness.</strong> Am. J. Hum. Genet. 13: 379-389, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13880289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13880289</a>]" pmid="13880289">Cohen et al., 1961</a>; <a href="#68" class="mim-tip-reference" title="O'Neill, W. M., Jr., Atkin, C. L., Bloomer, H. A. <strong>Hereditary nephritis: a re-examination of its clinical and genetic features.</strong> Ann. Intern. Med. 88: 176-182, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/626446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">626446</a>] [<a href="https://doi.org/10.7326/0003-4819-88-2-176" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="626446">O'Neill et al., 1978</a>; <a href="#24" class="mim-tip-reference" title="Evans, S. H., Erickson, R. P., Kelsch, R., Pierce, J. C. <strong>Apparently changing patterns of inheritance in Alport's hereditary nephritis: genetic heterogeneity versus altered diagnostic criteria.</strong> Clin. Genet. 17: 285-292, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7371220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7371220</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1980.tb00149.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7371220">Evans et al., 1980</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7371220+20773074+13880289+626446" 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>Perkoff et al. (<a href="#72" class="mim-tip-reference" title="Perkoff, G. T., Stephens, F. E., Dolowitz, D. A., Tyler, F. H. <strong>A clinical study of hereditary interstitial pyelonephritis.</strong> Arch. Intern. Med. 88: 191-200, 1951.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14856448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14856448</a>] [<a href="https://doi.org/10.1001/archinte.1951.03810080059006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14856448">1951</a>, <a href="#71" class="mim-tip-reference" title="Perkoff, G. T., Nugent, C. A., Jr., Dolowitz, D. A., Stephens, F. E., Carnes, W. H., Tyler, F. H. <strong>A follow-up study of hereditary chronic nephritis.</strong> Arch. Intern. Med. 102: 733-746, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13582260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13582260</a>] [<a href="https://doi.org/10.1001/archinte.1958.00260220049005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13582260">1958</a>) reported a large Utah kindred with hereditary chronic interstitial nephritis associated with sensorineural deafness. The kindred was further studied by <a href="#68" class="mim-tip-reference" title="O'Neill, W. M., Jr., Atkin, C. L., Bloomer, H. A. <strong>Hereditary nephritis: a re-examination of its clinical and genetic features.</strong> Ann. Intern. Med. 88: 176-182, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/626446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">626446</a>] [<a href="https://doi.org/10.7326/0003-4819-88-2-176" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="626446">O'Neill et al. (1978)</a>, who observed X-linked inheritance. Men were more severely affected than women. Microscopic hematuria was found to be the most reliable urinary criterion of hereditary nephritis in both males and females. The hematuria was often accompanied by red cell casts, indicating that the renal lesion was a glomerulitis. There were striking urinary abnormalities in early childhood which progressed to renal failure in adulthood. Affected women had less obvious urinary findings and rarely developed uremia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=626446+13582260+14856448" 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="#68" class="mim-tip-reference" title="O'Neill, W. M., Jr., Atkin, C. L., Bloomer, H. A. <strong>Hereditary nephritis: a re-examination of its clinical and genetic features.</strong> Ann. Intern. Med. 88: 176-182, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/626446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">626446</a>] [<a href="https://doi.org/10.7326/0003-4819-88-2-176" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="626446">O'Neill et al. (1978)</a> reported another large kindred with X-linked hereditary nephritis without hearing difficulties. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=626446" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><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="#39" class="mim-tip-reference" title="Iversen, U. M. <strong>Hereditary nephropathy with hearing loss: Alport's syndrome.</strong> Acta Paediat. Scand. Suppl. 245: 1-23, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4617477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4617477</a>]" pmid="4617477">Iversen (1974)</a> described the characteristic course of Alport syndrome in males: 'In connection with one of the infectious diseases of childhood or a common cold in early childhood or adolescence, he will suddenly begin to suffer from massive haematuria or headache or oedema of the face. The urine shows haematuria and/or proteinuria and often also cylindruria and leukocyturia. These urinary signs may in one and the same patient vary in degree during the following months, and in some patients they may almost disappear, but they may become more pronounced again during the next infectious disease or after physical strain. There may be more or less pronounced hypertension....Most boys with this disease die from uraemia during adolescence.' There may also be secondary involvement of a transplanted kidney. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4617477" 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="#108" class="mim-tip-reference" title="Zhou, J., Hertz, J. M., Tryggvason, K. <strong>Mutation in the alpha-5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: detection by denaturing gradient gel electrophoresis of a PCR product.</strong> Am. J. Hum. Genet. 50: 1291-1300, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1598909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1598909</a>]" pmid="1598909">Zhou et al. (1992)</a> reported a 27-year-old male who developed hematuria in childhood and terminal renal failure at the age of 25 years. He had no hearing loss or ocular lesions. Electron microscopy demonstrated splitting of the lamina densa of the glomerular basement membrane (GBM). The proband's mother had had persistent microscopic hematuria since the age of 40 years but no other manifestations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1598909" 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="#86" class="mim-tip-reference" title="Smeets, H. J. M., Melenhorst, J. J., Lemmink, H. H., Schroder, C. H., Nelen, M. R., Zhou, J., Hostikka, S. L., Tryggvason, K., Ropers, H.-H., Jansweijer, M. C. E., Monnens, L. A. H., Brunner, H. G., van Oost, B. A. <strong>Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome.</strong> Kidney Int. 42: 83-88, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1635357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1635357</a>] [<a href="https://doi.org/10.1038/ki.1992.264" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1635357">Smeets et al. (1992)</a> reported a boy with severe Alport syndrome who developed end-stage renal disease (ESRD) by age 17, accompanied by deafness. Transplantation with the kidney of an unrelated donor was followed by rapidly progressive antiglomerular basement membrane nephritis, leading to loss of the transplant almost 7 months after grafting. His affected maternal grandfather died from renal failure at the age of 26 years. His mother and sister both displayed hematuria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1635357" 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="#32" class="mim-tip-reference" title="Guo, C., Van Damme, B., Vanrenterghem, Y., Devriendt, K., Cassiman, J.-J., Marynen, P. <strong>Severe Alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele.</strong> J. Clin. Invest. 95: 1832-1837, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7706490/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7706490</a>] [<a href="https://doi.org/10.1172/JCI117862" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7706490">Guo et al. (1995)</a> reported a woman who presented at the age of 19 years with microscopic hematuria and nephrotic syndrome. The diagnosis of Alport syndrome was confirmed by the finding of typical glomerular basement membrane abnormalities on a renal biopsy taken at that age. There was progressive renal failure, and she began chronic hemodialysis at age 30. A cadaveric kidney transplantation was done 2 years later. Family history showed that her father had sensorineural hearing loss and died at age 36 of renal failure. An elder sister had microscopic hematuria, proteinuria with normal kidney function, and hearing loss. Molecular genetic studies identified 2 mutations in cis in the COL4A5 gene (<a href="/entry/303630#0012">303630.0012</a>), and skewed X-inactivation studies showed favoring of the mutant allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7706490" 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="#97" class="mim-tip-reference" title="Turco, A. E., Rossetti, S., Biasi, M. O., Rizzoni, G., Massella, L., Saarinen, N. H., Renieri, A., Pignatti, P. F., De Marchi, M. <strong>A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome.</strong> Clin. Genet. 48: 261-263, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8825605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8825605</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1995.tb04101.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8825605">Turco et al. (1995)</a> reported a man with late-onset Alport syndrome confirmed by genetic analysis (G54D; <a href="/entry/303630#0013">303630.0013</a>). Microhematuria was first discovered at age 22 years. He reached end-stage renal disease at age 40, and had a successful transplant at age 41. He also had bilateral sensorineural hearing loss and subcapsular posterior lens opacities. The proband had 2 daughters, aged 15 and 13 years. Since age 2, the older daughter had had mild irregular microhematuria with normal renal function; a renal biopsy at age 8 showed a thinning of the glomerular basement membrane. In the other daughter, microhematuria was discovered at age 7. Ocular and auditory assessments were normal in both sisters. The proband's mother was known to have microhematuria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8825605" 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>Clinical Variability</em></strong></p><p>
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<a href="#34" class="mim-tip-reference" title="Hasstedt, S. J., Atkin, C. L., San Juan, A. C., Jr. <strong>Genetic heterogeneity among kindreds with Alport syndrome.</strong> Am. J. Hum. Genet. 38: 940-953, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3728466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3728466</a>]" pmid="3728466">Hasstedt et al. (1986)</a> tested for clinical and genetic heterogeneity among 23 Utah kindreds with Alport syndrome. End-stage renal disease had occurred in 72 (49%) of 148 known affected males and in 13 (8%) of 171 known affected females. No father-son affected pairs occurred in any of the kindreds, and there was no evidence for autosomal inheritance. Eighty-four percent of daughters of affected fathers were affected, and 49% of sons and 48% of daughters of affected mothers were affected. One of 3 clinical phenotypes occurred in each of the 23 kindreds: juvenile Alport syndrome with deafness, adult Alport syndrome with deafness, or adult Alport syndrome without deafness or other defects. There was some evidence for intrakindred phenotypic heterogeneity for onset of ESRD: the age of 31 years for ESRD was taken as the divide between the juvenile and adult forms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3728466" 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="#52" class="mim-tip-reference" title="M'Rad, R., Sanak, M., Deschenes, G., Zhou, J., Bonaiti-Pellie, C., Holvoet-Vermaut, L., Heuertz, S., Gubler, M.-C., Broyer, M., Grunfeld, J.-P., Tryggvason, K., Hors-Cayla, M.-C. <strong>Alport syndrome: a genetic study of 31 families.</strong> Hum. Genet. 90: 420-426, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1483700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1483700</a>] [<a href="https://doi.org/10.1007/BF00220471" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1483700">M'Rad et al. (1992)</a> reviewed 31 families with Alport syndrome. Although there was clinical variability in ophthalmic signs and the age of development of end-stage renal disease, homogeneity tests failed to show evidence of genetic heterogeneity. All were consistent with X-linked inheritance, which was confirmed by linkage studies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1483700" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Evidence for Digenic Inheritance</em></strong></p><p>
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<a href="#58" class="mim-tip-reference" title="Mencarelli, M. A., Heidet, L., Storey, H., van Geel, M., Knebelmann, B., Fallerini, C., Miglietti, N., Antonucci, M. F., Cetta, F., Sayer, J. A., van den Wijngaard, A., Yau, S., Mari, F., Bruttini, M., Ariani, F., Dahan, K., Smeets, B., Antignac, C., Flinter, F., Renieri, A. <strong>Evidence of digenic inheritance in Alport syndrome.</strong> J. Med. Genet. 52: 163-174, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25575550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25575550</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102822" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25575550">Mencarelli et al. (2015)</a> identified 8 patients with mutations in COL4A4 (<a href="/entry/120131">120131</a>) and COL4A5, with phenotypes including hematuria with proteinuria in 6 individuals and end-stage renal disease in 2 individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25575550" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Ocular abnormalities have been observed in some patients (<a href="#2" class="mim-tip-reference" title="Arnott, E. J., Crawfurd, M. D. A., Toghill, P. J. <strong>Anterior lenticonus and Alport's syndrome.</strong> Brit. J. Ophthal. 50: 390-403, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5947587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5947587</a>] [<a href="https://doi.org/10.1136/bjo.50.7.390" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5947587">Arnott et al., 1966</a>). <a href="#67" class="mim-tip-reference" title="Nielsen, C. E. <strong>Lenticonus anterior and Alport's syndrome.</strong> Acta Ophthal. 56: 518-530, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/735766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">735766</a>] [<a href="https://doi.org/10.1111/j.1755-3768.1978.tb01365.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="735766">Nielsen (1978)</a> suggested that anterior lenticonus may be a specific sign of Alport syndrome, since all recently reported cases (e.g., <a href="#2" class="mim-tip-reference" title="Arnott, E. J., Crawfurd, M. D. A., Toghill, P. J. <strong>Anterior lenticonus and Alport's syndrome.</strong> Brit. J. Ophthal. 50: 390-403, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5947587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5947587</a>] [<a href="https://doi.org/10.1136/bjo.50.7.390" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5947587">Arnott et al. (1966)</a>) had been associated with hereditary nephropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=735766+5947587" 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="#29" class="mim-tip-reference" title="Govan, J. A. A. <strong>Ocular manifestations of Alport's syndrome: a hereditary disorder of basement membranes?</strong> Brit. J. Ophthal. 67: 493-503, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6871140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6871140</a>] [<a href="https://doi.org/10.1136/bjo.67.8.493" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6871140">Govan (1983)</a> described anterior lenticonus and retinal flecks in the macular and midperipheral retina as characteristic ophthalmic findings in Alport syndrome. The findings provided further evidence that Alport syndrome is a hereditary disorder of basement membranes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6871140" 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="#93" class="mim-tip-reference" title="Streeten, B. W., Robinson, M. R., Wallace, R., Jones, D. B. <strong>Lens capsule abnormalities in Alport's syndrome.</strong> Arch. Ophthal. 105: 1693-1697, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3689194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3689194</a>] [<a href="https://doi.org/10.1001/archopht.1987.01060120091033" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3689194">Streeten et al. (1987)</a> concluded that the anterior capsule of the lens 'is clearly fragile in this disease, forming the basis for the progressive lenticonus and anterior polar cataract. These abnormalities correlate well with a defect in the type IV collagen molecule.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3689194" 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="#10" class="mim-tip-reference" title="Burke, J. P., Clearkin, L. G., Talbot, J. F. <strong>Recurrent corneal epithelial erosions in Alport's syndrome.</strong> Acta Ophthal. 69: 555-557, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1750330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1750330</a>] [<a href="https://doi.org/10.1111/j.1755-3768.1991.tb02041.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1750330">Burke et al. (1991)</a> described bilateral corneal epithelial erosions in Alport syndrome. Their patient was a 25-year-old man who had recurrent episodes of pain in 1 or both eyes, which awakened him at night, and were associated with lacrimation, photophobia, and blurred vision. Proteinuria and microscopic hematuria had been recognized by age 12 months, and bilateral sensorineural hearing loss since age 11 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1750330" 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="#16" class="mim-tip-reference" title="Colville, D., Savige, J. <strong>Alport syndrome: a review of the ocular manifestations.</strong> Ophthal. Genet. 18: 161-173, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9457747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9457747</a>] [<a href="https://doi.org/10.3109/13816819709041431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9457747">Colville and Savige (1997)</a> reviewed the ocular manifestations of Alport syndrome. They stated that the typical ocular associations are a dot-and-fleck retinopathy, which occurs in approximately 85% of affected adult males, anterior lenticonus, which occurs in approximately 25%, and rare posterior polymorphous corneal dystrophy. The ocular manifestations were identical to those found in the autosomal forms of Alport syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9457747" 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="#78" class="mim-tip-reference" title="Rhys, C., Snyers, B., Pirson, Y. <strong>Recurrent corneal erosion associated with Alport's syndrome.</strong> Kidney Int. 52: 208-211, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9211364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9211364</a>] [<a href="https://doi.org/10.1038/ki.1997.321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9211364">Rhys et al. (1997)</a> observed 3 brothers with Alport syndrome and a history of spontaneous attacks of recurrent corneal erosion. In 2 of them, 2 episodes over a period of 1 to 3 years had occurred; the third brother had approximately 60 episodes over the previous 10 years. Further studies showed that 7 of 41 patients with Alport syndrome and renal failure had a history of corneal erosion first manifest between ages 12 and 21 years, compared to 1 of 67 control patients transplanted for another form of nephropathy (p = 0.003). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9211364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#69" class="mim-tip-reference" title="Ohkubo, S., Takeda, H., Higashide, T., Ito, M., Sakurai, M., Shirao, Y., Yanagida, T., Oda, Y., Sado, Y. <strong>Immunohistochemical and molecular genetic evidence for type IV collagen alpha-5 chain abnormality in the anterior lenticonus associated with Alport syndrome.</strong> Arch. Ophthal. 121: 846-850, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12796257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12796257</a>] [<a href="https://doi.org/10.1001/archopht.121.6.846" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12796257">Ohkubo et al. (2003)</a> found immunohistochemical evidence that normal anterior lens capsules expressed all of the A4 collagen chains. Similar studies of the anterior lens capsule of a patient with Alport syndrome who had anterior lenticonus showed lack of immunoreactivity to the COL4A3 to COL4A6 (<a href="/entry/303631">303631</a>) chains. The patient had a nonsense mutation in the COL4A5 gene (R1677X; <a href="/entry/303630#0015">303630.0015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12796257" 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="#68" class="mim-tip-reference" title="O'Neill, W. M., Jr., Atkin, C. L., Bloomer, H. A. <strong>Hereditary nephritis: a re-examination of its clinical and genetic features.</strong> Ann. Intern. Med. 88: 176-182, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/626446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">626446</a>] [<a href="https://doi.org/10.7326/0003-4819-88-2-176" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="626446">O'Neill et al. (1978)</a> identified 150 affected persons in 2 kindreds with hereditary nephritis and concluded that the inheritance of the disorder was consistent with an X-linked pattern. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=626446" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><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="#35" class="mim-tip-reference" title="Hasstedt, S. J., Atkin, C. L. <strong>X-linked inheritance of Alport syndrome: family P revisited.</strong> Am. J. Hum. Genet. 35: 1241-1251, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6650503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6650503</a>]" pmid="6650503">Hasstedt and Atkin (1983)</a> restudied the Utah kindred, 'family P,' that was the subject of the studies of Perkoff et al. (<a href="#72" class="mim-tip-reference" title="Perkoff, G. T., Stephens, F. E., Dolowitz, D. A., Tyler, F. H. <strong>A clinical study of hereditary interstitial pyelonephritis.</strong> Arch. Intern. Med. 88: 191-200, 1951.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14856448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14856448</a>] [<a href="https://doi.org/10.1001/archinte.1951.03810080059006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14856448">1951</a>, <a href="#71" class="mim-tip-reference" title="Perkoff, G. T., Nugent, C. A., Jr., Dolowitz, D. A., Stephens, F. E., Carnes, W. H., Tyler, F. H. <strong>A follow-up study of hereditary chronic nephritis.</strong> Arch. Intern. Med. 102: 733-746, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13582260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13582260</a>] [<a href="https://doi.org/10.1001/archinte.1958.00260220049005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13582260">1958</a>). Penetrance was estimated as 0.85 in females and 1.0 in males. Reexamination of segregation showed no excess of affected offspring of affected parents and no difference in penetrance in daughters of symptomatic and asymptomatic mothers. An unexplained deficiency of sons of affected mothers was found. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6650503+13582260+14856448" 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 Utah kindreds, Menlove et al. (<a href="#59" class="mim-tip-reference" title="Menlove, L., Aldridge, J., Schwartz, C., Atkin, C., Hasstedt, S., Kunkel, L., Bruns, G., Latt, S., Skolnick, M. <strong>Linkage between Alport syndrome-like hereditary nephritis and X-linked RFLPS. (Abstract)</strong> Am. J. Hum. Genet. 36: 146S only, 1984."None>1984</a>, <a href="#60" class="mim-tip-reference" title="Menlove, L., Kirschner, N., Nguyen, K., Morrison, T., Aldridge, J., Schwartz, C., Atkin, C., Hasstedt, S., Kunkel, L., Bruns, G., Latt, S., Skolnick, M. <strong>Linkage between Alport syndrome-like hereditary nephritis and X-linked RFLPs. (Abstract)</strong> Cytogenet. Cell Genet. 40: 697-698, 1985."None>1985</a>) mapped the locus for X-linked Alport syndrome to the proximal part of chromosome Xq near the centromere. They found 2 of 21 recombinants with DXS3, which is located at Xq21.3-q22 (maximum lod = 9.1; theta = 0.16). They found a maximum lod score of 2.5 at theta 0.18 for linkage with DXS1, which is located at Xp11-q13. These authors referred to the disorder as 'Alport syndrome-like hereditary nephritis,' based on the assumption that the disorder originally described by Alport was autosomal dominant.</p><p><a href="#4" class="mim-tip-reference" title="Atkin, C. L., Hasstedt, S. J., Menlove, L., Cannon, L., Kirschner, N., Schwartz, C., Nguyen, K., Skolnick, M. <strong>Mapping of Alport syndrome to the long arm of the X chromosome.</strong> Am. J. Hum. Genet. 42: 249-255, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3422540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3422540</a>]" pmid="3422540">Atkin et al. (1988)</a> reported on the typing of 261 members of 3 large kindreds with Alport syndrome using 5 DNA markers. Lod scores in excess of 3.0 were found on the long arm of the X chromosome. Two types of Alport syndrome were represented by 3 kindreds: affected males in 1 kindred developed deafness in addition to nephritis, but deafness was absent in affected members of the other 2 kindreds. However, there was no evidence of linkage heterogeneity among these families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3422540" 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="#25" class="mim-tip-reference" title="Flinter, F. A., Abbs, S., Bobrow, M. <strong>Localization of the gene for classic Alport's syndrome.</strong> Genomics 4: 335-338, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2565879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2565879</a>] [<a href="https://doi.org/10.1016/0888-7543(89)90339-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2565879">Flinter et al. (1989)</a> found linkage to DXS17 (maximum lod score = 4.72 at theta = 0.06). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2565879" 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="#26" class="mim-tip-reference" title="Flinter, F. A., Bobrow, M. <strong>Classic Alport's syndrome: an X linked disease. (Abstract)</strong> J. Med. Genet. 25: 283 only, 1988."None>Flinter and Bobrow (1988)</a> studied 41 families and concluded that Alport syndrome may be less heterogeneous than previously thought. All of the families had 'classic' Alport syndrome, with pedigrees compatible with X-linked inheritance. They confirmed linkage to Xq markers.</p><p><a href="#94" class="mim-tip-reference" title="Szpiro-Tapia, S., Bobrie, G., Guilloud-Bataille, M., Heuertz, S., Julier, C., Frezal, J., Gruenfeld, J. P., Hors-Cayla, M. C. <strong>Linkage studies in X-linked Alport's syndrome.</strong> Hum. Genet. 81: 85-87, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2904407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2904407</a>] [<a href="https://doi.org/10.1007/BF00283736" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2904407">Szpiro-Tapia et al. (1988)</a> presented additional data strongly supporting the assignment of the Alport syndrome gene to proximal Xq. The locus was designated 'ATS' by HGM10 in New Haven (1989). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2904407" 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="#36" class="mim-tip-reference" title="Hertz, J. M., Kruse, T. A., Thomsen, A., Spencer, E. S. <strong>Multipoint linkage analysis in X-linked Alport syndrome.</strong> Hum. Genet. 88: 157-161, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1684562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1684562</a>] [<a href="https://doi.org/10.1007/BF00206064" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1684562">Hertz et al. (1991)</a> presented data on the order of multiple DNA markers in relation to ATS in the proximal portion of Xq in 12 Danish families with classic ATS or progressive hereditary nephritis without deafness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1684562" 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="#52" class="mim-tip-reference" title="M'Rad, R., Sanak, M., Deschenes, G., Zhou, J., Bonaiti-Pellie, C., Holvoet-Vermaut, L., Heuertz, S., Gubler, M.-C., Broyer, M., Grunfeld, J.-P., Tryggvason, K., Hors-Cayla, M.-C. <strong>Alport syndrome: a genetic study of 31 families.</strong> Hum. Genet. 90: 420-426, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1483700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1483700</a>] [<a href="https://doi.org/10.1007/BF00220471" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1483700">M'Rad et al. (1992)</a> reviewed 31 families with Alport syndrome. Although there was clinical variability in ophthalmic signs and the age of development of end-stage renal disease, homogeneity tests failed to show evidence of genetic heterogeneity. Concordant data indicated the localization of the Alport gene between DXS17 and DXS11. Four deletions and 1 single base mutation of the COL4A5 gene were detected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1483700" 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="#61" class="mim-tip-reference" title="Miller, G. W., Joseph, D. J., Cozad, R. L., McCabe, B. F. <strong>Alport's syndrome.</strong> Arch. Otolaryng. 92: 419-432, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5311820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5311820</a>] [<a href="https://doi.org/10.1001/archotol.1970.04310050001001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5311820">Miller et al. (1970)</a> showed that the vestibular neuroepithelium as well as that of the cochlea is involved in Alport syndrome. <a href="#65" class="mim-tip-reference" title="Myers, G. J., Tyler, H. R. <strong>The etiology of deafness in Alport's syndrome.</strong> Arch. Otolaryng. 96: 333-340, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5081944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5081944</a>] [<a href="https://doi.org/10.1001/archotol.1972.00770090509007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5081944">Myers and Tyler (1972)</a> found variability in the histologic findings of the ear in Alport syndrome. In 2 cases with severe deafness, 1 had had a histologically normal inner ear, whereas the other had a marked reduction in spinal ganglion cochlear neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5081944+5311820" 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="#89" class="mim-tip-reference" title="Spear, G. S. <strong>Alport's syndrome: a consideration of pathogenesis.</strong> Clin. Nephrol. 1: 336-337, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4786573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4786573</a>]" pmid="4786573">Spear (1973)</a> suggested that a primary structural abnormality of basement membranes underlies the phenotype of Alport syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4786573" 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="Churg, J., Sherman, R. L. <strong>Pathology of hereditary nephritis.</strong> Arch. Path. 95: 374-379, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4701392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4701392</a>]" pmid="4701392">Churg and Sherman (1973)</a> stated that the ultrastructural changes of the glomerular basement membrane, which is irregularly thickened and attenuated, are specific for Alport syndrome. Immunofluorescence studies provided little evidence for an immunologic basis for renal damage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4701392" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a study by <a href="#100" class="mim-tip-reference" title="Waldherr, R. <strong>Familial glomerular disease.</strong> Contrib. Nephrol. 33: 104-121, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6749416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6749416</a>]" pmid="6749416">Waldherr (1982)</a>, Alport syndrome comprised at least a sixth of familial glomerular disease, which itself was responsible for 6.3% of his biopsy material. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6749416" 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="#105" 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 (<a href="/entry/141200">141200</a>). 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>By indirect immunofluorescence of kidney biopsies from 7 males from 5 families with Alport syndrome, <a href="#40" class="mim-tip-reference" title="Jeraj, K., Kim, Y., Vernier, R. L., Fish, A. J., Michael, A. F. <strong>Absence of Goodpasture's antigen in male patients with familial nephritis.</strong> Am. J. Kidney Dis. 2: 626-629, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6342375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6342375</a>] [<a href="https://doi.org/10.1016/s0272-6386(83)80043-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6342375">Jeraj et al. (1983)</a> found absence of the glomerular basement membrane antigen targeted in the autoimmune disorder Goodpasture syndrome (<a href="/entry/233450">233450</a>), which is characterized by glomerulonephritis and lung disease. However, the antigen was detected in 2 affected women, an unaffected male, and 13 normal controls. The specificity of the finding was supported by persistence of other glomerular basement membrane antigens, and the findings were compatible with X-linked inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6342375" 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>IgG in sera from patients with Goodpasture syndrome does not bind to the GBM of some patients with Alport syndrome. The epitopes reactive with anti-GBM antibodies are located in the noncollagenous globular domain of type IV collagen. Treatment with acid-urea favors exposure of this epitope. <a href="#44" class="mim-tip-reference" title="Kashtan, C., Fish, A. J., Kleppel, M., Yoshioka, K., Michael, A. F. <strong>Nephritogenic antigen determinants in epidermal and renal basement membranes of kindreds with Alport-type familial nephritis.</strong> J. Clin. Invest. 78: 1035-1044, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2428839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2428839</a>] [<a href="https://doi.org/10.1172/JCI112658" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2428839">Kashtan et al. (1986)</a> found that FNS, a serum from an Alport patient who developed anti-GBM nephritis in a renal allograft, reacted with acid-urea-treated epidermal basement membrane (EBM) from 12 controls and 9 unaffected male relatives of Alport patients, but did not react with EBM from 8 affected males. In 5 affected females, 'interrupted' reactivity of FNS with EBM was observed, i.e., there were gaps, regions of nonreactive EBM separating regions of reactive EBM. The immunofluorescent stains of basement membrane demonstrated the Lyon phenomenon of X inactivation in a particularly graphic manner. Goodpasture sera (GPS), containing antibodies, were not discriminating; whereas FNS did not stain renal basement membrane from 5 affected males, GPS stained EBM, tubular basement membrane, and Bowman capsules of affected males. These studies indicated that the FNS antigen is apparently distinct from the Goodpasture antigen. The distribution in altered expression of FNS in type IV collagen was consistent with X-linked dominant inheritance. <a href="#99" class="mim-tip-reference" title="Turner, N., Mason, P. J., Brown, R., Fox, M., Povey, S., Rees, A., Pusey, C. D. <strong>Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha-3 chain of type IV collagen.</strong> J. Clin. Invest. 89: 592-601, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1737849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1737849</a>] [<a href="https://doi.org/10.1172/JCI115625" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1737849">Turner et al. (1992)</a> identified COL4A3 (<a href="/entry/120070">120070</a>), which maps to chromosome 2q36 and not to the X chromosome, as the antigen targeted in Goodpasture syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2428839+1737849" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a retrospective, double-blind study, <a href="#82" class="mim-tip-reference" title="Savage, C. O. S., Reed, A., Kershaw, M., Pincott, J., Pusey, C. D., Dillon, M. J., Barratt, T. M., Lockwood, C. M. <strong>Use of a monoclonal antibody in differential diagnosis of children with haematuria and hereditary nephritis.</strong> Lancet 327: 1459-1461, 1986. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2873277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2873277</a>] [<a href="https://doi.org/10.1016/s0140-6736(86)91499-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2873277">Savage et al. (1986)</a> examined paraffin-embedded renal biopsy sections from 44 children with hematuria to see whether a mouse monoclonal antibody (MCA-P1) against GBM could identify a subgroup of patients with Alport syndrome in which the Goodpasture antigen was abnormal. Strong linear binding of MCA-P1 to GBM was found in all 29 patients without evidence of hereditary nephritis and in 2 with possible but not definite hereditary nephritis. In contrast, 12 of 13 patients with strong evidence of hereditary nephritis showed no binding (9) or greatly reduced binding (3). Thus, abnormal antigenicity of the basement membrane in hereditary nephritis, as reported by <a href="#55" class="mim-tip-reference" title="McCoy, R. C., Johnson, K. H., Stone, W. J., Wilson, C. B. <strong>Absence of nephritogenic GBM antigen(s) in some patients with hereditary nephritis.</strong> Kidney Int. 21: 642-652, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7047864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7047864</a>] [<a href="https://doi.org/10.1038/ki.1982.72" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7047864">McCoy et al. (1982)</a>, was confirmed. <a href="#81" class="mim-tip-reference" title="Savage, C. O. S., Noel, L. H., Cashman, S., Grunfeld, J. P., Lockwood, C. M. <strong>Characterisation by immunoblotting of the glomerular basement membrane defect in hereditary nephritis. (Abstract)</strong> Clin. Res. 35: 663A only, 1987."None>Savage et al. (1987)</a> concluded that the inherited defect in hereditary nephritis affects Goodpasture antigen secondarily. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2873277+7047864" 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>Serum amyloid P component (SAP; <a href="/entry/104770">104770</a>) has been found to be a constituent of normal GBM. <a href="#57" class="mim-tip-reference" title="Melvin, T., Kim, Y., Michael, A. F. <strong>Amyloid P component is not present in the glomerular basement membrane in Alport-type hereditary nephritis.</strong> Am. J. Path. 125: 460-464, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3541639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3541639</a>]" pmid="3541639">Melvin et al. (1986)</a> showed that SAP and Goodpasture antigen are closely associated in the GBM and that SAP is also absent in patients with Alport-type hereditary nephritis who lack Goodpasture antigen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3541639" 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="#104" class="mim-tip-reference" title="Yoshikawa, N., Matsuyama, S., Ito, H., Hajikano, H., Matsuo, T. <strong>Nonfamilial hematuria associated with glomerular basement membrane alterations characteristic of hereditary nephritis: comparison with hereditary nephritis.</strong> J. Pediat. 111: 519-524, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3655982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3655982</a>] [<a href="https://doi.org/10.1016/s0022-3476(87)80111-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3655982">Yoshikawa et al. (1987)</a> reviewed 48 children with hematuria and ultrastructural changes of the GBM, a characteristic of hereditary nephritis. In 30 cases, there was hematuria in at least 1 other member of the family; in the other 18 cases, there was no familial incidence. There were no differences between the 2 groups with regard to clinical and pathologic findings. At the latest follow-up, 6 boys with familial hematuria and 3 boys with nonfamilial hematuria had reduced renal function, and 9 boys with familial hematuria and 4 boys and 1 girl with nonfamilial hematuria had sensorineural deafness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3655982" 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="#47" class="mim-tip-reference" title="Knebelmann, B., Breillat, C., Forestier, L., Arrondel, C., Jacassier, D., Giatras, I., Drouot, L, Deschenes, G., Grunfeld, J.-P., Broyer, M., Gubler, M.-C., Antignac, C. <strong>Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.</strong> Am. J. Hum. Genet. 59: 1221-1232, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8940267/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8940267</a>]" pmid="8940267">Knebelmann et al. (1996)</a> reported that 16 of 18 patients with Alport syndrome who were tested had abnormal glomerular basement antigenicity. They demonstrated that even a subtle modification of the alpha-5 chain of collagen IV, such as a glycine substitution in the collagenous domain, could be associated with lack of immunologic expression of the alpha-3, alpha-4, and alpha-5 chains. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8940267" 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>Normal glomerular capillaries filter plasma through a basement membrane rich in the alpha-3, alpha-4, and alpha-5 chains of type IV collagen. <a href="#42" class="mim-tip-reference" title="Kalluri, R., Shield, C. F., III, Todd, P., Hudson, B. G., Neilson, E. G. <strong>Isoform switching of type IV collagen is developmentally arrested in X-linked Alport syndrome leading to increased susceptibility of renal basement membranes to endoproteolysis.</strong> J. Clin. Invest. 99: 2470-2478, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9153291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9153291</a>] [<a href="https://doi.org/10.1172/JCI119431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9153291">Kalluri et al. (1997)</a> showed that these 3 isoforms are absent biochemically from the glomeruli of patients with X-linked Alport syndrome. Instead, their glomerular basement membranes retain a fetal distribution of the alpha-1 and alpha-2 isoforms of type IV collagen because they fail to switch their alpha-chain use developmentally. The anomalous persistence of these fetal isoforms in the GBM confers an increase in susceptibility to proteolytic attack by collagenases and cathepsins. The authors speculated that the incorporation of the cysteine-rich alpha-3, alpha-4, and alpha-5 chains into specialized basement membranes like the GBM may have evolved to enhance their resistance to proteolytic degradation at the site of glomerular filtration. The absence of these potentially protective collagen IV isoforms in GBM from X-linked Alport syndrome patients may explain the progressive basement membrane splitting and increased damage as the kidneys deteriorate in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9153291" 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="#56" class="mim-tip-reference" title="Meleg-Smith, S., Magliato, S., Cheles, M., Garola, R. E., Kashtan, C. E. <strong>X-linked Alport syndrome in females.</strong> Hum. Path. 29: 404-408, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9563792/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9563792</a>] [<a href="https://doi.org/10.1016/s0046-8177(98)90123-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9563792">Meleg-Smith et al. (1998)</a> studied renal biopsy specimens from 8 female patients with a clinical presentation suggestive of Alport syndrome. Two patients were 7 and 36 years of age; 6 were between 12 and 15 years of age. Light microscopy and immunohistochemistry using a monoclonal antibody to COL4A5 were used to define expression of the protein in the glomerular basement membrane. To describe the variability of the ultrastructural GBM changes, they developed a semiquantitative Alport Index. Despite the wide variability, they concluded that renal biopsy can identify female patients heterozygous for X-linked Alport syndrome. The predominant ultrastructural change in females was thin basement membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9563792" 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="#62" class="mim-tip-reference" title="Milliner, D. S., Pierides, A. M., Holley, K. E. <strong>Renal transplantation in Alport's syndrome: anti-glomerular basement membrane glomerulonephritis in the allograft.</strong> Mayo Clin. Proc. 57: 35-43, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7033680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7033680</a>]" pmid="7033680">Milliner et al. (1982)</a> estimated that approximately 1 to 5% of Alport syndrome patients who receive transplants develop a specific antiglomerular basement membrane (anti-GBM) nephritis, subsequently leading to loss of the renal graft. Patients with Alport syndrome constituted 2.3% of the transplant population at the Mayo Clinic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7033680" 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="#28" class="mim-tip-reference" title="Gobel, J., Olbricht, C. J., Offner, G., Helmchen, U., Repp, H., Koch, K. M., Frei, U. <strong>Kidney transplantation in Alport's syndrome: long-term outcome and allograft anti-GBM nephritis.</strong> Clin. Nephrol. 38: 299-304, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1468159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1468159</a>]" pmid="1468159">Gobel et al. (1992)</a> studied graft survival and course of renal function in 30 Alport syndrome patients who had had kidney transplants and compared them with nondiabetic, age- and sex-matched patients, transplanted on a date closest to that of an Alport syndrome patient. Patient survival was better in the Alport syndrome group, and first graft survival was the same in the 2 groups. Graft histology was available in 34 biopsies obtained from 21 kidneys in 15 ATS patients. Anti-GBM nephritis was not detected in any of them, and no graft was lost due to anti-GBM nephritis. <a href="#28" class="mim-tip-reference" title="Gobel, J., Olbricht, C. J., Offner, G., Helmchen, U., Repp, H., Koch, K. M., Frei, U. <strong>Kidney transplantation in Alport's syndrome: long-term outcome and allograft anti-GBM nephritis.</strong> Clin. Nephrol. 38: 299-304, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1468159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1468159</a>]" pmid="1468159">Gobel et al. (1992)</a> concluded that allograft anti-GBM nephritis is a rare complication in patients with Alport syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1468159" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a review of mutations that had been identified in the type IV collagen genes in patients with Alport syndrome, <a href="#51" class="mim-tip-reference" title="Lemmink, H. H., Schroder, C. H., Monnens, L. A. H., Smeets, H. J. M. <strong>The clinical spectrum of type IV collagen mutations.</strong> Hum. Mutat. 9: 477-499, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9195222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9195222</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9195222">Lemmink et al. (1997)</a> found data on 46 patients with transplants, among whom there were 41 with a COL4A5 mutation, 4 with a COL4A3 (<a href="/entry/120070">120070</a>) mutation, and 1 with a COL4A4 (<a href="/entry/120131">120131</a>) mutation. All patients except 1 had juvenile Alport syndrome. A specific anti-GBM nephritis was detected in 9 patients with transplants (20% of the total number of transplants). Of these 9, 8 carried large deletions or premature stop codons, which were predicted to result in COL4A3 or COL4A5 proteins truncated within the noncollagenous (NC) domain. The exception was a splice site mutation resulting in an mRNA without exon 38. Four patients identified with COL4A3 mutations had had transplants, and 3 of them developed an anti-GBM nephritis. These data suggested that Alport syndrome patients with a type IV collagen mutation resulting in absence of the NC domain have an increased risk of developing anti-GBM nephritis after renal transplantation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9195222" 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>Suspicion that the mutation responsible for Alport syndrome might reside in the gene for the alpha-5 chain of collagen IV was raised by the demonstration that the COL4A5 gene maps to Xq22-q23, the same region known to contain the locus for the X-linked form of Alport syndrome (<a href="#66" class="mim-tip-reference" title="Myers, J. C., Jones, T. A., Pohjolainen, E.-R., Kadri, A. S., Goddard, A. D., Sheer, D., Solomon, E., Pihlajaniemi, T. <strong>Molecular cloning of alpha-5(IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus.</strong> Am. J. Hum. Genet. 46: 1024-1033, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2339699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2339699</a>]" pmid="2339699">Myers et al., 1990</a>). <a href="#5" class="mim-tip-reference" title="Barker, D. F., Hostikka, S. L., Zhou, J., Chow, L. T., Oliphant, A. R., Gerken, S. C., Gregory, M. C., Skolnick, M. H., Atkin, C. L., Tryggvason, K. <strong>Identification of mutations in the COL4A5 collagen gene in Alport syndrome.</strong> Science 248: 1224-1227, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2349482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2349482</a>] [<a href="https://doi.org/10.1126/science.2349482" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2349482">Barker et al. (1990)</a> identified 3 different structural anomalies in the COL4A5 gene (<a href="/entry/303630#0001">303630.0001</a>-<a href="/entry/303630#0003">303630.0003</a>) in affected members of 3 Utah kindreds with X-linked Alport syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2339699+2349482" 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="#108" class="mim-tip-reference" title="Zhou, J., Hertz, J. M., Tryggvason, K. <strong>Mutation in the alpha-5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: detection by denaturing gradient gel electrophoresis of a PCR product.</strong> Am. J. Hum. Genet. 50: 1291-1300, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1598909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1598909</a>]" pmid="1598909">Zhou et al. (1992)</a> demonstrated that juvenile-onset Alport syndrome without hearing loss or ocular lesions is also due to mutation in the COL4A5 gene (<a href="/entry/303630#0006">303630.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1598909" 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="#76" class="mim-tip-reference" title="Renieri, A., Bruttini, M., Galli, L., Zanelli, P., Neri, T., Rossetti, S., Turco, A., Heiskari, N., Zhou, J., Gusmano, R., Massella, L., Banfi, G., Scolari, F., Sessa, A., Rizzoni, G., Tryggvason, K., Pignatti, P. F., Savi, M., Ballabio, A., De Marchi, M. <strong>X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.</strong> Am. J. Hum. Genet. 58: 1192-1204, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651296</a>]" pmid="8651296">Renieri et al. (1996)</a> used SSCP analysis of the entire coding sequence of the COL4A5 gene to search for mutations in 201 unrelated Italian patients with Alport syndrome. A causative mutation was found in only 45% of individuals. The authors noted that SSCP analysis can potentially detect 80% of mutations. They suggested that their failure to detect a higher percentage of mutations in these patients may indicate that disease-causing mutations occur not only in the exons but also in the promoter region, within introns, or in alternatively spliced exons. They commented that an alternative explanation could be the involvement of other genes within the Xq region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8651296" 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="#47" class="mim-tip-reference" title="Knebelmann, B., Breillat, C., Forestier, L., Arrondel, C., Jacassier, D., Giatras, I., Drouot, L, Deschenes, G., Grunfeld, J.-P., Broyer, M., Gubler, M.-C., Antignac, C. <strong>Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.</strong> Am. J. Hum. Genet. 59: 1221-1232, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8940267/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8940267</a>]" pmid="8940267">Knebelmann et al. (1996)</a> screened 48 of the 51 exons of the COL4A5 gene by SSCP analysis and identified 64 mutations and 10 sequence variants among 131 unrelated Alport syndrome patients, which represents a mutation detection rate of approximately 50%. They reported that all different types of mutations were observed in juvenile-type Alport syndrome whereas only glycine substitutions and splicing mutations were observed in adult-type Alport syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8940267" 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="#6" class="mim-tip-reference" title="Barker, D. F., Pruchno, C. J., Jiang, X., Atkin, C. L., Stone, E. M., Denison, J. C., Fain, P. R., Gregory, M. C. <strong>A mutation causing Alport syndrome with tardive hearing loss is common in the western United States.</strong> Am. J. Hum. Genet. 58: 1157-1165, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651292</a>]" pmid="8651292">Barker et al. (1996)</a> identified a novel mutation in the COL4A5 gene (L1649R; <a href="/entry/303630#0014">303630.0014</a>) in Alport syndrome patients. In contrast to most described COL4A5 mutations in Alport syndrome, each of which accounts for the disease in a single family, the L1649R mutation was found in over 7% of the 121 families studied. In males with the L1649R mutation, renal failure preceded hearing loss by approximately 10 years, and the cumulative frequency of hearing loss was 60% by age 60. <a href="#6" class="mim-tip-reference" title="Barker, D. F., Pruchno, C. J., Jiang, X., Atkin, C. L., Stone, E. M., Denison, J. C., Fain, P. R., Gregory, M. C. <strong>A mutation causing Alport syndrome with tardive hearing loss is common in the western United States.</strong> Am. J. Hum. Genet. 58: 1157-1165, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651292</a>]" pmid="8651292">Barker et al. (1996)</a> noted that substantial variability occurs in the ages at appearance of end-stage renal disease and functional hearing loss among individuals with identical mutations, emphasizing the fallibility of generalizations about the phenotype associated with a specific mutation that is observed in only a small number of Alport syndrome patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8651292" 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="#37" class="mim-tip-reference" title="Hertz, J. M., Persson, U., Juncker, I., Segelmark, M. <strong>Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene.</strong> Hum. Genet. 118: 23-28, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16133187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16133187</a>] [<a href="https://doi.org/10.1007/s00439-005-0013-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16133187">Hertz et al. (2005)</a> reported a 32-year-old man with Alport syndrome in whom no mutation in COL4A5 was found by SSCP, although there was an abnormal band pattern on Southern blot analysis. Long-range and inverse PCR revealed an inversion on the long arm of the X chromosome with a proximal breakpoint within intron 8 of the COL4A5 gene. <a href="#37" class="mim-tip-reference" title="Hertz, J. M., Persson, U., Juncker, I., Segelmark, M. <strong>Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene.</strong> Hum. Genet. 118: 23-28, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16133187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16133187</a>] [<a href="https://doi.org/10.1007/s00439-005-0013-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16133187">Hertz et al. (2005)</a> stated that this was the first report of inversion of the X chromosome associated with Alport syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16133187" 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="#33" class="mim-tip-reference" title="Guthrie, L. B. <strong>'Idiopathic,' or congenital, hereditary and family haematuria.</strong> Lancet 159: 1243-1246, 1902. Note: Originally Volume I."None>Guthrie (1902)</a> reported a family in which 12 individuals showed recurrent hematuria. At the time of this report, none of the affected individuals exhibited evidence of chronic renal damage. <a href="#38" class="mim-tip-reference" title="Hurst, A. F. <strong>Hereditary familial congenital haemorrhagic nephritis: occurring in sixteen individuals in three generations.</strong> Guys Hosp. Rep. 3: 368-370, 1923."None>Hurst (1923)</a> described the development of uremia in several members of this family. <a href="#1" class="mim-tip-reference" title="Alport, A. C. <strong>Hereditary familial congenital haemorrhagic nephritis.</strong> Brit. Med. J. 1: 504-506, 1927.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20773074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20773074</a>] [<a href="https://doi.org/10.1136/bmj.1.3454.504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20773074">Alport (1927)</a> reported that many family members showed deafness as well as renal disease, and that affected males died of uremia whereas affected females lived to old age. As a result, Alport's name became synonymous with a familial progressive nephropathy, first manifested by hematuria and associated with deafness, that is particularly severe in affected males. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20773074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>A kindred reported by <a href="#70" class="mim-tip-reference" title="Ohlsson, L. <strong>Congenital renal disease, deafness and myopia in one family.</strong> Acta Med. Scand. 174: 77-84, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14042467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14042467</a>] [<a href="https://doi.org/10.1111/j.0954-6820.1963.tb07893.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14042467">Ohlsson (1963)</a> differed from others reported in that myopia was a conspicuous feature and the impairment of renal function in the affected males was relatively mild, even in 2 over age 30 years. <a href="#21" class="mim-tip-reference" title="Devriendt, K., Standaert, L., Van Hole, C., Devlieger, H., Fryns, J.-P. <strong>Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity.</strong> J. Med. Genet. 35: 70-71, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9475100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9475100</a>] [<a href="https://doi.org/10.1136/jmg.35.1.70" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9475100">Devriendt et al. (1998)</a> suggested that the brothers reported by <a href="#70" class="mim-tip-reference" title="Ohlsson, L. <strong>Congenital renal disease, deafness and myopia in one family.</strong> Acta Med. Scand. 174: 77-84, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14042467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14042467</a>] [<a href="https://doi.org/10.1111/j.0954-6820.1963.tb07893.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14042467">Ohlsson (1963)</a> may have had Donnai-Barrow syndrome (<a href="/entry/222448">222448</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14042467+9475100" 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="#63" class="mim-tip-reference" title="Miyoshi, K., Suzuki, M., Ohno, F., Yamano, T., Yagi, F., Khono, H. <strong>Antithyroid antibodies in Alport's syndrome.</strong> Lancet 306: 480-482, 1975. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/51288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">51288</a>] [<a href="https://doi.org/10.1016/s0140-6736(75)90549-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="51288">Miyoshi et al. (1975)</a> found antithyroid antibodies in the serum of multiple persons with Alport syndrome in 2 Japanese kindreds. Hyperthyroidism was present in 1 and histologic changes of thyroiditis in a second. They proposed that Alport syndrome may be an immunologic disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=51288" 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="Atkin, C. L., Gregory, M. C., Border, W. A. <strong>Alport syndrome. In: Schrier, R. W.; Gottschalk, C. W. (eds.): Strauss and Welt's Diseases of the Kidney. (4th ed.)</strong> Boston: Little, Brown (pub.) 1986."None>Atkin et al. (1986)</a> proposed the existence of 6 subtypes of Alport syndrome among reported kindreds: I, classic juvenile Alport syndrome with deafness; II, X-linked juvenile Alport syndrome with deafness; III, X-linked adult Alport syndrome with deafness; IV, X-linked adult Alport syndrome without deafness or other defect, that is, purely renal disease; V, autosomal Alport syndrome with deafness and thrombocytopathia (see <a href="/entry/155100">155100</a>); and VI, autosomal recessive juvenile Alport syndrome with deafness (see <a href="/entry/203780">203780</a>). A possibly distinct entity was hereditary nephritis without deafness (<a href="/entry/161900">161900</a>) reported by <a href="#77" class="mim-tip-reference" title="Reyersbach, G. C., Butler, A. M. <strong>Congenital hereditary hematuria.</strong> New Eng. J. Med. 251: 377-380, 1954.[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://doi.org/10.1056/NEJM195409022511003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13194078">Reyersbach and Butler (1954)</a> and <a href="#23" class="mim-tip-reference" title="Dockhorn, R. J. <strong>Hereditary nephropathy without deafness.</strong> Am. J. Dis. Child. 114: 135-138, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4951535/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4951535</a>] [<a href="https://doi.org/10.1001/archpedi.1967.02090230065004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4951535">Dockhorn (1967)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13194078+4951535" 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="#7" class="mim-tip-reference" title="Baumal, R., Thorner, P., Valli, V. E. O., McInnes, R., Marrano, P., Jacobs, R., Binnington, A., Bloedow, A. G. <strong>Renal disease in carrier female dogs with X-linked hereditary nephritis: implications for female patients with this disease.</strong> Am. J. Path. 139: 751-764, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1928300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1928300</a>]" pmid="1928300">Baumal et al. (1991)</a> reported study of the apparently homologous disorder in a family of Samoyed dogs. The authenticity of the model was established by demonstration of mutation in the COL4A5 gene (<a href="#106" class="mim-tip-reference" title="Zheng, K., Thorner, P. S., Marrano, P., Baumal, R., McInnes, R. R. <strong>A premature stop codon in the gene encoding the alpha-5 chain of collagen type IV in canine hereditary nephritis (HN). (Abstract)</strong> Am. J. Hum. Genet. 51 (suppl.): A180 only, 1992."None>Zheng et al., 1992</a>). <a href="#48" class="mim-tip-reference" title="Lees, G. E., Helman, R. G., Kashtan, C. E., Michael, A. F., Homco, L. D., Millichamp, N. J., Camacho, Z. T., Templeton, J. W., Ninomiya, Y., Sado, Y., Naito, I., Kim, Y. <strong>New form of X-linked dominant hereditary nephritis in dogs.</strong> Am. J. Vet. Res. 60: 373-383, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10188823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10188823</a>]" pmid="10188823">Lees et al. (1999)</a> described an X-linked form of hereditary nephritis in a family of mixed breed dogs located in Navasota, Texas. The glomerular basement membrane of Navasota (NAV) hereditary nephritis males was shown to undergo ultrastructural changes identical to those observed in Alport syndrome and in Samoyed hereditary glomerular nephritis. A hereditary nephritis in English cocker spaniels (<a href="#79" class="mim-tip-reference" title="Robinson, W. F., Huxtable, C. R., Gooding, J. P. <strong>Familial nephropathy in cocker spaniels.</strong> Aust. Vet. J. 62: 109-112, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4026716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4026716</a>] [<a href="https://doi.org/10.1111/j.1751-0813.1985.tb07253.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4026716">Robinson et al., 1985</a>; <a href="#92" class="mim-tip-reference" title="Steward, A. P., MacDougall, D. F. <strong>Familial nephropathy in the cocker spaniel.</strong> J. Small Anim. Pract. 25: 15-24, 1984."None>Steward and MacDougall, 1984</a>) appears to be a model of autosomal recessive Alport syndrome (Lees et al. (<a href="#50" class="mim-tip-reference" title="Lees, G. E., Wilson, P. D., Helman, R. G., Homco, L. D., Frey, M. S. <strong>Glomerular ultrastructural findings similar to hereditary nephritis in 4 English cocker spaniels.</strong> J. Vet. Intern. Med. 11: 80-85, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9127294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9127294</a>] [<a href="https://doi.org/10.1111/j.1939-1676.1997.tb00077.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9127294">1997</a>, <a href="#49" class="mim-tip-reference" title="Lees, G. E., Helman, R. G., Kashtan, C. E., Michael, A. F., Homco, L. D., Millichamp, N. J., Ninomiya, Y., Sado, Y., Naito, I., Kim, Y. <strong>A model of autosomal recessive Alport syndrome in English cocker spaniel dogs.</strong> Kidney Int. 54: 706-719, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9734596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9734596</a>] [<a href="https://doi.org/10.1046/j.1523-1755.1998.00062.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9734596">1998</a>)). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4026716+10188823+9127294+1928300+9734596" 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>NAV dogs exhibit typical clinical, histologic, immunochemical, and genetic features of X-linked Alport syndrome. In a colony of NAV dogs, <a href="#17" class="mim-tip-reference" title="Cox, M. L., Lees, G. E., Kashtan, C. E., Murphy, K. E. <strong>Genetic cause of X-linked Alport syndrome in a family of domestic dogs.</strong> Mammalian Genome 14: 396-403, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12879362/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12879362</a>] [<a href="https://doi.org/10.1007/s00335-002-2253-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12879362">Cox et al. (2003)</a> identified the causative mutation: a 10-bp deletion in exon 9 of the COL4A5 gene, resulting in a frameshift and premature stop codon. Another form of canine X-linked Alport syndrome had been reported by <a href="#9" class="mim-tip-reference" title="Bernard, M. A., Valli, V. E. <strong>Familial renal disease in Samoyed dogs.</strong> Canad. Vet. J. 18: 181-189, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/884645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">884645</a>]" pmid="884645">Bernard and Valli (1977)</a> and shown by <a href="#107" class="mim-tip-reference" title="Zheng, K., Thorner, P. S., Marrano, P., Baumal, R., McInnes, R. R. <strong>Canine X chromosome-linked hereditary nephritis: a genetic model for human X-linked hereditary nephritis resulting from a single base mutation in the gene encoding the alpha-5 chain of collagen type IV.</strong> Proc. Nat. Acad. Sci. 91: 3989-3993, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8171024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8171024</a>] [<a href="https://doi.org/10.1073/pnas.91.9.3989" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8171024">Zheng et al. (1994)</a> to be caused by a G-to-T substitution in exon 35 of COL4A5, causing a premature stop codon. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12879362+8171024+884645" 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="#41" class="mim-tip-reference" title="Kalluri, R., Danoff, T. M., Okada, H., Neilson, E. G. <strong>Susceptibility to anti-glomerular basement membrane disease and Goodpasture syndrome is linked to MHC class II genes and the emergence of T cell-mediated immunity in mice.</strong> J. Clin. Invest. 100: 2263-2275, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9410904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9410904</a>] [<a href="https://doi.org/10.1172/JCI119764" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9410904">Kalluri et al. (1997)</a> developed a new mouse model of human anti-GBM disease to characterize better the genetic determinants of cell-mediated injury. The findings in studies of the model suggested that anti-GBM antibodies in mice facilitate disease only in MHC haplotypes capable of generating nephritogenic lymphocytes with special T-cell repertoires. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9410904" 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="#Beathard1977" class="mim-tip-reference" title="Beathard, G. A., Granholm, N. A. <strong>Development of the characteristic ultrastructural lesion of hereditary nephritis during the course of the disease.</strong> Am. J. Med. 62: 751-756, 1977.">Beathard and Granholm (1977)</a>; <a href="#Chazan1971" class="mim-tip-reference" title="Chazan, J. A., Zacks, J., Cohen, J. J., Garella, S. <strong>Hereditary nephritis: clinical spectrum and mode of inheritance in five new kindreds.</strong> Am. J. Med. 50: 764-771, 1971.">Chazan et al. (1971)</a>; <a href="#Chuang1974" class="mim-tip-reference" title="Chuang, V. P., Reuter, S. R. <strong>Angiographic features of Alport's syndrome: hereditary nephritis.</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 121: 539-543, 1974.">Chuang and Reuter
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(1974)</a>; <a href="#Cochat1988" class="mim-tip-reference" title="Cochat, P., Guibaud, P., Garcia-Torres, R., Roussel, B., Guarner, V., Larbre, F. <strong>Diffuse leiomyomatosis in Alport syndrome.</strong> J. Pediat. 113: 339-343, 1988.">Cochat et al. (1988)</a>; <a href="#Crawfurd1968" class="mim-tip-reference" title="Crawfurd, M. D. A., Toghill, P. J. <strong>Alport's syndrome of hereditary nephritis and deafness.</strong> Quart. J. Med. 37: 563-576, 1968.">Crawfurd and Toghill (1968)</a>; <a href="#Crawfurd1988" class="mim-tip-reference" title="Crawfurd, M. d'A. <strong>The Genetics of Renal Tract Disorders.</strong> Oxford: Oxford Univ. Press (pub.) 1988.">Crawfurd
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(1988)</a>; <a href="#Crawfurd1988" class="mim-tip-reference" title="Crawfurd, M. d'A. <strong>The Genetics of Renal Tract Disorders.</strong> Oxford: Oxford Univ. Press (pub.) 1988.">Crawfurd (1988)</a>; <a href="#DiBona1983" class="mim-tip-reference" title="DiBona, G. F. <strong>Alport's syndrome: a genetic defect in biochemical composition of basement membrane of glomerulus, lens, and inner ear? (Editorial)</strong> J. Lab. Clin. Med. 101: 817-820, 1983.">DiBona (1983)</a>; <a href="#Flinter1988" class="mim-tip-reference" title="Flinter, F. A., Cameron, J. S., Chantler, C., Houston, I., Bobrow, M. <strong>Genetics of classic Alport's syndrome.</strong> Lancet 332: 1005-1007, 1988. Note: Originally Volume II.">Flinter et al. (1988)</a>; <a href="#Goyer1968" class="mim-tip-reference" title="Goyer, R. A., Reynolds, J., Jr., Burke, J., Burkholder, P. <strong>Hereditary renal disease with neurosensory hearing loss, prolinuria and ichthyosis.</strong> Am. J. Med. Sci. 256: 166-179, 1968.">Goyer
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et al. (1968)</a>; <a href="#Grunfeld1973" class="mim-tip-reference" title="Grunfeld, J. P., Bois, E. P., Hinglais, N. <strong>Progressive and non-progressive hereditary chronic nephritis.</strong> Kidney Int. 4: 216-228, 1973.">Grunfeld et al. (1973)</a>; <a href="#Kenya1977" class="mim-tip-reference" title="Kenya, P. R., Asal, N. R., Pederson, J. A., Lindeman, R. D. <strong>Hereditary (familial) renal disease: clinical and genetic studies.</strong> Sth. Med. J. 70: 1049-1051, 1977.">Kenya et al. (1977)</a>; <a href="#MacNeill1973" class="mim-tip-reference" title="MacNeill, E., Shaw, R. F. <strong>Segregation ratios in Alport's syndrome.</strong> J. Med. Genet. 10: 23-26, 1973.">MacNeill
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and Shaw (1973)</a>; <a href="#Marin1961" class="mim-tip-reference" title="Marin, O. S. M., Tyler, H. R. <strong>Hereditary interstitial nephritis associated with polyneuropathy.</strong> Neurology 11: 999-1005, 1961.">Marin and Tyler (1961)</a>; <a href="#Mulrow1963" class="mim-tip-reference" title="Mulrow, P. J., Aron, A. M., Gathman, G. E., Yesner, R., Lubs, H. A. <strong>Hereditary nephritis: report of a kindred.</strong> Am. J. Med. 35: 737-748, 1963.">Mulrow et al. (1963)</a>; <a href="#Perrin1980" class="mim-tip-reference" title="Perrin, D., Jungers, P., Grunfeld, J. P., Delons, S., Noel, L.-H., Zenatti, C. <strong>Perimacular changes in Alport's syndrome.</strong> Clin. Nephrol. 13: 163-167, 1980.">Perrin
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1136/bmj.1.3454.504" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/bjo.50.7.390" target="_blank">Full Text</a>]
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<a id="Atkin1986" class="mim-anchor"></a>
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<a id="Barker1990" class="mim-anchor"></a>
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Barker, D. F., Hostikka, S. L., Zhou, J., Chow, L. T., Oliphant, A. R., Gerken, S. C., Gregory, M. C., Skolnick, M. H., Atkin, C. L., Tryggvason, K.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2349482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2349482</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2349482" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.2349482" target="_blank">Full Text</a>]
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Barker, D. F., Pruchno, C. J., Jiang, X., Atkin, C. L., Stone, E. M., Denison, J. C., Fain, P. R., Gregory, M. C.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1928300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1928300</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1928300" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/860725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">860725</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=860725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0002-9343(77)90878-6" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1750330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1750330</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1750330" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1755-3768.1991.tb02041.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9343(71)90184-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.2214/ajr.121.3.539" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(88)80280-4" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.3109/13816819709041431" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s00335-002-2253-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.25.9.623" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.35.1.70" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1980.tb00149.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0888-7543(89)90339-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(88)90753-2" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/bjo.67.8.493" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ki.1973.103" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI117862" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s00439-005-0013-0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0272-6386(83)80043-2" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI119764" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.11.11.999" target="_blank">Full Text</a>]
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<strong>Absence of nephritogenic GBM antigen(s) in some patients with hereditary nephritis.</strong>
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[<a href="https://doi.org/10.1038/ki.1982.72" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0046-8177(98)90123-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2014-102822" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archotol.1970.04310050001001" target="_blank">Full Text</a>]
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<strong>Antithyroid antibodies in Alport's syndrome.</strong>
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[<a href="https://doi.org/10.1016/s0140-6736(75)90549-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9343(63)90237-7" target="_blank">Full Text</a>]
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<strong>The etiology of deafness in Alport's syndrome.</strong>
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[<a href="https://doi.org/10.1001/archotol.1972.00770090509007" target="_blank">Full Text</a>]
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<strong>Molecular cloning of alpha-5(IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus.</strong>
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[<a href="https://doi.org/10.1111/j.1755-3768.1978.tb01365.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.7326/0003-4819-88-2-176" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archopht.121.6.846" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.0954-6820.1963.tb07893.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archinte.1958.00260220049005" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archinte.1951.03810080059006" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0002-9343(70)80057-2" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM195409022511003" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ki.1997.321" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1751-0813.1985.tb07253.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(86)91499-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9343(74)90749-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ki.1992.264" target="_blank">Full Text</a>]
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<strong>Hereditary nephritis with nerve deafness: immunofluorescent studies on the kidney, with a consideration of discordant immunoglobulin-complement immunofluorescent reactions.</strong>
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[<a href="https://doi.org/10.1016/s0002-9343(70)80113-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM196804112781510" target="_blank">Full Text</a>]
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<a id="Steward1984" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1001/archopht.1987.01060120091033" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00283736" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.7326/0003-4819-89-2-285_2" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1979.tb01002.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1995.tb04101.x" target="_blank">Full Text</a>]
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<strong>Hereditary hearing loss with nephropathy (Alport's syndrome).</strong>
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[<a href="https://doi.org/10.1172/JCI115625" target="_blank">Full Text</a>]
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<a id="Waldherr1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Waldherr, R.
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<strong>Familial glomerular disease.</strong>
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Contrib. Nephrol. 33: 104-121, 1982.
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<a id="Westley1970" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Westley, C. R.
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<strong>Familial nephritis and associated deafness in a southwestern Apache Indian family.</strong>
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[<a href="https://doi.org/10.1097/00007611-197012000-00008" target="_blank">Full Text</a>]
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<a id="Whalen1961" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Whalen, R. E., Huang, S.-S., Peschel, E., McIntosh, H. D.
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<strong>Hereditary nephropathy, deafness and renal foam cells.</strong>
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[<a href="https://doi.org/10.1016/0002-9343(61)90107-3" target="_blank">Full Text</a>]
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<a id="103" class="mim-anchor"></a>
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<a id="Williamson1961" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Williamson, D. A. J.
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<strong>Alport's syndrome of hereditary nephritis with deafness.</strong>
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Lancet 278: 1321-1323, 1961. Note: Originally Volume II.
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[<a href="https://doi.org/10.1016/s0140-6736(61)90899-6" target="_blank">Full Text</a>]
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<a id="104" class="mim-anchor"></a>
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<a id="Yoshikawa1987" class="mim-anchor"></a>
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Yoshikawa, N., Matsuyama, S., Ito, H., Hajikano, H., Matsuo, T.
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<strong>Nonfamilial hematuria associated with glomerular basement membrane alterations characteristic of hereditary nephritis: comparison with hereditary nephritis.</strong>
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J. Pediat. 111: 519-524, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3655982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3655982</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3655982" 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(87)80111-7" target="_blank">Full Text</a>]
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<a id="Yoshikawa1982" class="mim-anchor"></a>
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<div class="">
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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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<a id="106" class="mim-anchor"></a>
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<a id="Zheng1992" class="mim-anchor"></a>
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Zheng, K., Thorner, P. S., Marrano, P., Baumal, R., McInnes, R. R.
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<strong>A premature stop codon in the gene encoding the alpha-5 chain of collagen type IV in canine hereditary nephritis (HN). (Abstract)</strong>
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<a id="107" class="mim-anchor"></a>
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<a id="Zheng1994" class="mim-anchor"></a>
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Zheng, K., Thorner, P. S., Marrano, P., Baumal, R., McInnes, R. R.
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<strong>Canine X chromosome-linked hereditary nephritis: a genetic model for human X-linked hereditary nephritis resulting from a single base mutation in the gene encoding the alpha-5 chain of collagen type IV.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8171024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8171024</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8171024" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.91.9.3989" target="_blank">Full Text</a>]
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<a id="108" class="mim-anchor"></a>
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<a id="Zhou1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhou, J., Hertz, J. M., Tryggvason, K.
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<strong>Mutation in the alpha-5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: detection by denaturing gradient gel electrophoresis of a PCR product.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1598909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1598909</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1598909" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<br />
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 7/10/2015
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - reorganized : 5/26/2010<br>Cassandra L. Kniffin - updated : 5/21/2010<br>Marla J. F. O'Neill - updated : 12/28/2005<br>Victor A. McKusick - updated : 12/9/2003<br>Jane Kelly - updated : 10/23/2003<br>Victor A. McKusick - updated : 8/13/1999<br>Victor A. McKusick - updated : 6/7/1999<br>Michael J. Wright - updated : 9/18/1998<br>Victor A. McKusick - updated : 8/24/1998<br>Victor A. McKusick - updated : 6/19/1997<br>Moyra Smith - updated : 1/31/1997<br>Moyra Smith - updated : 6/9/1996
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</span>
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Victor A. McKusick : 6/4/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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alopez : 10/10/2023
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carol : 10/10/2023<br>alopez : 10/06/2023<br>alopez : 10/06/2023<br>alopez : 10/06/2023<br>carol : 08/02/2019<br>carol : 01/31/2019<br>carol : 09/27/2018<br>joanna : 08/04/2016<br>carol : 07/09/2016<br>carol : 10/23/2015<br>alopez : 7/10/2015<br>mcolton : 3/4/2015<br>wwang : 6/13/2011<br>terry : 3/23/2011<br>carol : 3/22/2011<br>carol : 6/30/2010<br>ckniffin : 5/27/2010<br>carol : 5/26/2010<br>ckniffin : 5/21/2010<br>terry : 3/27/2009<br>wwang : 1/5/2006<br>terry : 12/28/2005<br>alopez : 8/19/2005<br>terry : 11/4/2004<br>tkritzer : 12/17/2003<br>terry : 12/9/2003<br>cwells : 10/23/2003<br>cwells : 5/3/2001<br>carol : 1/30/2001<br>terry : 11/6/2000<br>carol : 5/30/2000<br>carol : 8/18/1999<br>terry : 8/13/1999<br>kayiaros : 7/13/1999<br>mgross : 6/22/1999<br>mgross : 6/16/1999<br>mgross : 6/15/1999<br>mgross : 6/15/1999<br>terry : 6/7/1999<br>alopez : 11/11/1998<br>alopez : 10/1/1998<br>carol : 9/22/1998<br>terry : 9/18/1998<br>carol : 8/25/1998<br>terry : 8/24/1998<br>terry : 1/20/1998<br>alopez : 10/22/1997<br>mark : 7/8/1997<br>jenny : 6/23/1997<br>alopez : 6/19/1997<br>mark : 1/31/1997<br>jamie : 1/16/1997<br>jamie : 1/16/1997<br>carol : 6/9/1996<br>mark : 6/9/1995<br>carol : 2/9/1995<br>pfoster : 7/19/1994<br>davew : 7/6/1994<br>mimadm : 2/27/1994<br>carol : 12/20/1993
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<strong>#</strong> 301050
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ALPORT SYNDROME 1, X-LINKED; ATS1
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<em>Alternative titles; symbols</em>
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ATS<br />
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NEPHROPATHY AND DEAFNESS, X-LINKED
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<strong>SNOMEDCT:</strong> 717768004;
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<strong>ORPHA:</strong> 63, 88917;
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<strong>DO:</strong> 0110034;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Xq22.3
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Alport syndrome 1, X-linked
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301050
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X-linked dominant
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3
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COL4A5
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303630
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<p>A number sign (#) is used with this entry because X-linked Alport syndrome-1 (ATS1) is caused by mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5; 303630) on Xq22.</p>
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<strong>Description</strong>
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<p>Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and variable ocular anomalies (review by Kashtan, 1999). </p><p><strong><em>Genetic Heterogeneity of Alport Syndrome</em></strong></p><p>
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Alport syndrome is a genetically heterogeneous disorder, with all forms resulting from mutations in genes encoding type IV collagen, which is a major structural component of the basement membrane. Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive (ATS2, 203780; ATS3B, 620536); autosomal dominant inheritance (ATS3A; 104200) is rare (Kashtan, 1999). </p><p>See also benign familial hematuria (BFH; 141200), a phenotypically similar, but milder disorder.</p><p>Alport syndrome is also a feature of 2 contiguous gene deletion syndromes involving the COL4A5 gene: Alport syndrome and diffuse leiomyomatosis (308940) and Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME; 300194).</p>
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<strong>Clinical Features</strong>
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<p>Alport (1927) reported a family in which affected individuals showed progressive renal disease with hematuria and deafness. Affected males died early of uremia, while females lived to old age. The report of Alport (1927) was the fourth concerning a single pedigree that was also studied by Guthrie (1902), Kendall and Hertz, 1912, and Hurst (1923) (review by Cohen et al., 1961). The renal disease became evident as recurrent microscopic or gross hematuria as early as childhood, earlier in males than in females. Progression to renal failure was gradual and usually occurred in males by the fifth decade. The renal histology was nonspecific; both glomerular and interstitial abnormalities, including foam cells, were observed. Although initially reported as a dominant trait with possible partial sex-linkage, it later became apparent that this was an X-linked dominant condition (Cohen et al., 1961; O'Neill et al., 1978; Evans et al., 1980). </p><p>Perkoff et al. (1951, 1958) reported a large Utah kindred with hereditary chronic interstitial nephritis associated with sensorineural deafness. The kindred was further studied by O'Neill et al. (1978), who observed X-linked inheritance. Men were more severely affected than women. Microscopic hematuria was found to be the most reliable urinary criterion of hereditary nephritis in both males and females. The hematuria was often accompanied by red cell casts, indicating that the renal lesion was a glomerulitis. There were striking urinary abnormalities in early childhood which progressed to renal failure in adulthood. Affected women had less obvious urinary findings and rarely developed uremia. </p><p>O'Neill et al. (1978) reported another large kindred with X-linked hereditary nephritis without hearing difficulties. </p><p>Iversen (1974) described the characteristic course of Alport syndrome in males: 'In connection with one of the infectious diseases of childhood or a common cold in early childhood or adolescence, he will suddenly begin to suffer from massive haematuria or headache or oedema of the face. The urine shows haematuria and/or proteinuria and often also cylindruria and leukocyturia. These urinary signs may in one and the same patient vary in degree during the following months, and in some patients they may almost disappear, but they may become more pronounced again during the next infectious disease or after physical strain. There may be more or less pronounced hypertension....Most boys with this disease die from uraemia during adolescence.' There may also be secondary involvement of a transplanted kidney. </p><p>Zhou et al. (1992) reported a 27-year-old male who developed hematuria in childhood and terminal renal failure at the age of 25 years. He had no hearing loss or ocular lesions. Electron microscopy demonstrated splitting of the lamina densa of the glomerular basement membrane (GBM). The proband's mother had had persistent microscopic hematuria since the age of 40 years but no other manifestations. </p><p>Smeets et al. (1992) reported a boy with severe Alport syndrome who developed end-stage renal disease (ESRD) by age 17, accompanied by deafness. Transplantation with the kidney of an unrelated donor was followed by rapidly progressive antiglomerular basement membrane nephritis, leading to loss of the transplant almost 7 months after grafting. His affected maternal grandfather died from renal failure at the age of 26 years. His mother and sister both displayed hematuria. </p><p>Guo et al. (1995) reported a woman who presented at the age of 19 years with microscopic hematuria and nephrotic syndrome. The diagnosis of Alport syndrome was confirmed by the finding of typical glomerular basement membrane abnormalities on a renal biopsy taken at that age. There was progressive renal failure, and she began chronic hemodialysis at age 30. A cadaveric kidney transplantation was done 2 years later. Family history showed that her father had sensorineural hearing loss and died at age 36 of renal failure. An elder sister had microscopic hematuria, proteinuria with normal kidney function, and hearing loss. Molecular genetic studies identified 2 mutations in cis in the COL4A5 gene (303630.0012), and skewed X-inactivation studies showed favoring of the mutant allele. </p><p>Turco et al. (1995) reported a man with late-onset Alport syndrome confirmed by genetic analysis (G54D; 303630.0013). Microhematuria was first discovered at age 22 years. He reached end-stage renal disease at age 40, and had a successful transplant at age 41. He also had bilateral sensorineural hearing loss and subcapsular posterior lens opacities. The proband had 2 daughters, aged 15 and 13 years. Since age 2, the older daughter had had mild irregular microhematuria with normal renal function; a renal biopsy at age 8 showed a thinning of the glomerular basement membrane. In the other daughter, microhematuria was discovered at age 7. Ocular and auditory assessments were normal in both sisters. The proband's mother was known to have microhematuria. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Hasstedt et al. (1986) tested for clinical and genetic heterogeneity among 23 Utah kindreds with Alport syndrome. End-stage renal disease had occurred in 72 (49%) of 148 known affected males and in 13 (8%) of 171 known affected females. No father-son affected pairs occurred in any of the kindreds, and there was no evidence for autosomal inheritance. Eighty-four percent of daughters of affected fathers were affected, and 49% of sons and 48% of daughters of affected mothers were affected. One of 3 clinical phenotypes occurred in each of the 23 kindreds: juvenile Alport syndrome with deafness, adult Alport syndrome with deafness, or adult Alport syndrome without deafness or other defects. There was some evidence for intrakindred phenotypic heterogeneity for onset of ESRD: the age of 31 years for ESRD was taken as the divide between the juvenile and adult forms. </p><p>M'Rad et al. (1992) reviewed 31 families with Alport syndrome. Although there was clinical variability in ophthalmic signs and the age of development of end-stage renal disease, homogeneity tests failed to show evidence of genetic heterogeneity. All were consistent with X-linked inheritance, which was confirmed by linkage studies. </p><p><strong><em>Evidence for Digenic Inheritance</em></strong></p><p>
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Mencarelli et al. (2015) identified 8 patients with mutations in COL4A4 (120131) and COL4A5, with phenotypes including hematuria with proteinuria in 6 individuals and end-stage renal disease in 2 individuals. </p>
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<strong>Other Features</strong>
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<p>Ocular abnormalities have been observed in some patients (Arnott et al., 1966). Nielsen (1978) suggested that anterior lenticonus may be a specific sign of Alport syndrome, since all recently reported cases (e.g., Arnott et al. (1966)) had been associated with hereditary nephropathy. </p><p>Govan (1983) described anterior lenticonus and retinal flecks in the macular and midperipheral retina as characteristic ophthalmic findings in Alport syndrome. The findings provided further evidence that Alport syndrome is a hereditary disorder of basement membranes. </p><p>Streeten et al. (1987) concluded that the anterior capsule of the lens 'is clearly fragile in this disease, forming the basis for the progressive lenticonus and anterior polar cataract. These abnormalities correlate well with a defect in the type IV collagen molecule.' </p><p>Burke et al. (1991) described bilateral corneal epithelial erosions in Alport syndrome. Their patient was a 25-year-old man who had recurrent episodes of pain in 1 or both eyes, which awakened him at night, and were associated with lacrimation, photophobia, and blurred vision. Proteinuria and microscopic hematuria had been recognized by age 12 months, and bilateral sensorineural hearing loss since age 11 years. </p><p>Colville and Savige (1997) reviewed the ocular manifestations of Alport syndrome. They stated that the typical ocular associations are a dot-and-fleck retinopathy, which occurs in approximately 85% of affected adult males, anterior lenticonus, which occurs in approximately 25%, and rare posterior polymorphous corneal dystrophy. The ocular manifestations were identical to those found in the autosomal forms of Alport syndrome. </p><p>Rhys et al. (1997) observed 3 brothers with Alport syndrome and a history of spontaneous attacks of recurrent corneal erosion. In 2 of them, 2 episodes over a period of 1 to 3 years had occurred; the third brother had approximately 60 episodes over the previous 10 years. Further studies showed that 7 of 41 patients with Alport syndrome and renal failure had a history of corneal erosion first manifest between ages 12 and 21 years, compared to 1 of 67 control patients transplanted for another form of nephropathy (p = 0.003). </p><p>Ohkubo et al. (2003) found immunohistochemical evidence that normal anterior lens capsules expressed all of the A4 collagen chains. Similar studies of the anterior lens capsule of a patient with Alport syndrome who had anterior lenticonus showed lack of immunoreactivity to the COL4A3 to COL4A6 (303631) chains. The patient had a nonsense mutation in the COL4A5 gene (R1677X; 303630.0015). </p>
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<strong>Inheritance</strong>
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<p>O'Neill et al. (1978) identified 150 affected persons in 2 kindreds with hereditary nephritis and concluded that the inheritance of the disorder was consistent with an X-linked pattern. </p><p>Hasstedt and Atkin (1983) restudied the Utah kindred, 'family P,' that was the subject of the studies of Perkoff et al. (1951, 1958). Penetrance was estimated as 0.85 in females and 1.0 in males. Reexamination of segregation showed no excess of affected offspring of affected parents and no difference in penetrance in daughters of symptomatic and asymptomatic mothers. An unexplained deficiency of sons of affected mothers was found. </p>
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<strong>Mapping</strong>
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<p>In affected Utah kindreds, Menlove et al. (1984, 1985) mapped the locus for X-linked Alport syndrome to the proximal part of chromosome Xq near the centromere. They found 2 of 21 recombinants with DXS3, which is located at Xq21.3-q22 (maximum lod = 9.1; theta = 0.16). They found a maximum lod score of 2.5 at theta 0.18 for linkage with DXS1, which is located at Xp11-q13. These authors referred to the disorder as 'Alport syndrome-like hereditary nephritis,' based on the assumption that the disorder originally described by Alport was autosomal dominant.</p><p>Atkin et al. (1988) reported on the typing of 261 members of 3 large kindreds with Alport syndrome using 5 DNA markers. Lod scores in excess of 3.0 were found on the long arm of the X chromosome. Two types of Alport syndrome were represented by 3 kindreds: affected males in 1 kindred developed deafness in addition to nephritis, but deafness was absent in affected members of the other 2 kindreds. However, there was no evidence of linkage heterogeneity among these families. </p><p>Flinter et al. (1989) found linkage to DXS17 (maximum lod score = 4.72 at theta = 0.06). </p><p>Flinter and Bobrow (1988) studied 41 families and concluded that Alport syndrome may be less heterogeneous than previously thought. All of the families had 'classic' Alport syndrome, with pedigrees compatible with X-linked inheritance. They confirmed linkage to Xq markers.</p><p>Szpiro-Tapia et al. (1988) presented additional data strongly supporting the assignment of the Alport syndrome gene to proximal Xq. The locus was designated 'ATS' by HGM10 in New Haven (1989). </p><p>Hertz et al. (1991) presented data on the order of multiple DNA markers in relation to ATS in the proximal portion of Xq in 12 Danish families with classic ATS or progressive hereditary nephritis without deafness. </p><p>M'Rad et al. (1992) reviewed 31 families with Alport syndrome. Although there was clinical variability in ophthalmic signs and the age of development of end-stage renal disease, homogeneity tests failed to show evidence of genetic heterogeneity. Concordant data indicated the localization of the Alport gene between DXS17 and DXS11. Four deletions and 1 single base mutation of the COL4A5 gene were detected. </p>
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<p>Miller et al. (1970) showed that the vestibular neuroepithelium as well as that of the cochlea is involved in Alport syndrome. Myers and Tyler (1972) found variability in the histologic findings of the ear in Alport syndrome. In 2 cases with severe deafness, 1 had had a histologically normal inner ear, whereas the other had a marked reduction in spinal ganglion cochlear neurons. </p><p>Spear (1973) suggested that a primary structural abnormality of basement membranes underlies the phenotype of Alport syndrome. </p><p>Churg and Sherman (1973) stated that the ultrastructural changes of the glomerular basement membrane, which is irregularly thickened and attenuated, are specific for Alport syndrome. Immunofluorescence studies provided little evidence for an immunologic basis for renal damage. </p><p>In a study by Waldherr (1982), Alport syndrome comprised at least a sixth of familial glomerular disease, which itself was responsible for 6.3% of his biopsy material. </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 (141200). Their biopsies showed little or no glomerular changes other than attenuation of the lamina densa on electron microscopy. </p><p>By indirect immunofluorescence of kidney biopsies from 7 males from 5 families with Alport syndrome, Jeraj et al. (1983) found absence of the glomerular basement membrane antigen targeted in the autoimmune disorder Goodpasture syndrome (233450), which is characterized by glomerulonephritis and lung disease. However, the antigen was detected in 2 affected women, an unaffected male, and 13 normal controls. The specificity of the finding was supported by persistence of other glomerular basement membrane antigens, and the findings were compatible with X-linked inheritance. </p><p>IgG in sera from patients with Goodpasture syndrome does not bind to the GBM of some patients with Alport syndrome. The epitopes reactive with anti-GBM antibodies are located in the noncollagenous globular domain of type IV collagen. Treatment with acid-urea favors exposure of this epitope. Kashtan et al. (1986) found that FNS, a serum from an Alport patient who developed anti-GBM nephritis in a renal allograft, reacted with acid-urea-treated epidermal basement membrane (EBM) from 12 controls and 9 unaffected male relatives of Alport patients, but did not react with EBM from 8 affected males. In 5 affected females, 'interrupted' reactivity of FNS with EBM was observed, i.e., there were gaps, regions of nonreactive EBM separating regions of reactive EBM. The immunofluorescent stains of basement membrane demonstrated the Lyon phenomenon of X inactivation in a particularly graphic manner. Goodpasture sera (GPS), containing antibodies, were not discriminating; whereas FNS did not stain renal basement membrane from 5 affected males, GPS stained EBM, tubular basement membrane, and Bowman capsules of affected males. These studies indicated that the FNS antigen is apparently distinct from the Goodpasture antigen. The distribution in altered expression of FNS in type IV collagen was consistent with X-linked dominant inheritance. Turner et al. (1992) identified COL4A3 (120070), which maps to chromosome 2q36 and not to the X chromosome, as the antigen targeted in Goodpasture syndrome. </p><p>In a retrospective, double-blind study, Savage et al. (1986) examined paraffin-embedded renal biopsy sections from 44 children with hematuria to see whether a mouse monoclonal antibody (MCA-P1) against GBM could identify a subgroup of patients with Alport syndrome in which the Goodpasture antigen was abnormal. Strong linear binding of MCA-P1 to GBM was found in all 29 patients without evidence of hereditary nephritis and in 2 with possible but not definite hereditary nephritis. In contrast, 12 of 13 patients with strong evidence of hereditary nephritis showed no binding (9) or greatly reduced binding (3). Thus, abnormal antigenicity of the basement membrane in hereditary nephritis, as reported by McCoy et al. (1982), was confirmed. Savage et al. (1987) concluded that the inherited defect in hereditary nephritis affects Goodpasture antigen secondarily. </p><p>Serum amyloid P component (SAP; 104770) has been found to be a constituent of normal GBM. Melvin et al. (1986) showed that SAP and Goodpasture antigen are closely associated in the GBM and that SAP is also absent in patients with Alport-type hereditary nephritis who lack Goodpasture antigen. </p><p>Yoshikawa et al. (1987) reviewed 48 children with hematuria and ultrastructural changes of the GBM, a characteristic of hereditary nephritis. In 30 cases, there was hematuria in at least 1 other member of the family; in the other 18 cases, there was no familial incidence. There were no differences between the 2 groups with regard to clinical and pathologic findings. At the latest follow-up, 6 boys with familial hematuria and 3 boys with nonfamilial hematuria had reduced renal function, and 9 boys with familial hematuria and 4 boys and 1 girl with nonfamilial hematuria had sensorineural deafness. </p><p>Knebelmann et al. (1996) reported that 16 of 18 patients with Alport syndrome who were tested had abnormal glomerular basement antigenicity. They demonstrated that even a subtle modification of the alpha-5 chain of collagen IV, such as a glycine substitution in the collagenous domain, could be associated with lack of immunologic expression of the alpha-3, alpha-4, and alpha-5 chains. </p><p>Normal glomerular capillaries filter plasma through a basement membrane rich in the alpha-3, alpha-4, and alpha-5 chains of type IV collagen. Kalluri et al. (1997) showed that these 3 isoforms are absent biochemically from the glomeruli of patients with X-linked Alport syndrome. Instead, their glomerular basement membranes retain a fetal distribution of the alpha-1 and alpha-2 isoforms of type IV collagen because they fail to switch their alpha-chain use developmentally. The anomalous persistence of these fetal isoforms in the GBM confers an increase in susceptibility to proteolytic attack by collagenases and cathepsins. The authors speculated that the incorporation of the cysteine-rich alpha-3, alpha-4, and alpha-5 chains into specialized basement membranes like the GBM may have evolved to enhance their resistance to proteolytic degradation at the site of glomerular filtration. The absence of these potentially protective collagen IV isoforms in GBM from X-linked Alport syndrome patients may explain the progressive basement membrane splitting and increased damage as the kidneys deteriorate in these patients. </p><p>Meleg-Smith et al. (1998) studied renal biopsy specimens from 8 female patients with a clinical presentation suggestive of Alport syndrome. Two patients were 7 and 36 years of age; 6 were between 12 and 15 years of age. Light microscopy and immunohistochemistry using a monoclonal antibody to COL4A5 were used to define expression of the protein in the glomerular basement membrane. To describe the variability of the ultrastructural GBM changes, they developed a semiquantitative Alport Index. Despite the wide variability, they concluded that renal biopsy can identify female patients heterozygous for X-linked Alport syndrome. The predominant ultrastructural change in females was thin basement membrane. </p>
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<h4>
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<strong>Clinical Management</strong>
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<p><strong><em>Complications of Renal Transplant</em></strong></p><p>
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Milliner et al. (1982) estimated that approximately 1 to 5% of Alport syndrome patients who receive transplants develop a specific antiglomerular basement membrane (anti-GBM) nephritis, subsequently leading to loss of the renal graft. Patients with Alport syndrome constituted 2.3% of the transplant population at the Mayo Clinic. </p><p>Gobel et al. (1992) studied graft survival and course of renal function in 30 Alport syndrome patients who had had kidney transplants and compared them with nondiabetic, age- and sex-matched patients, transplanted on a date closest to that of an Alport syndrome patient. Patient survival was better in the Alport syndrome group, and first graft survival was the same in the 2 groups. Graft histology was available in 34 biopsies obtained from 21 kidneys in 15 ATS patients. Anti-GBM nephritis was not detected in any of them, and no graft was lost due to anti-GBM nephritis. Gobel et al. (1992) concluded that allograft anti-GBM nephritis is a rare complication in patients with Alport syndrome. </p><p>In a review of mutations that had been identified in the type IV collagen genes in patients with Alport syndrome, Lemmink et al. (1997) found data on 46 patients with transplants, among whom there were 41 with a COL4A5 mutation, 4 with a COL4A3 (120070) mutation, and 1 with a COL4A4 (120131) mutation. All patients except 1 had juvenile Alport syndrome. A specific anti-GBM nephritis was detected in 9 patients with transplants (20% of the total number of transplants). Of these 9, 8 carried large deletions or premature stop codons, which were predicted to result in COL4A3 or COL4A5 proteins truncated within the noncollagenous (NC) domain. The exception was a splice site mutation resulting in an mRNA without exon 38. Four patients identified with COL4A3 mutations had had transplants, and 3 of them developed an anti-GBM nephritis. These data suggested that Alport syndrome patients with a type IV collagen mutation resulting in absence of the NC domain have an increased risk of developing anti-GBM nephritis after renal transplantation. </p>
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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 class="mim-text-font">
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<p>Suspicion that the mutation responsible for Alport syndrome might reside in the gene for the alpha-5 chain of collagen IV was raised by the demonstration that the COL4A5 gene maps to Xq22-q23, the same region known to contain the locus for the X-linked form of Alport syndrome (Myers et al., 1990). Barker et al. (1990) identified 3 different structural anomalies in the COL4A5 gene (303630.0001-303630.0003) in affected members of 3 Utah kindreds with X-linked Alport syndrome. </p><p>Zhou et al. (1992) demonstrated that juvenile-onset Alport syndrome without hearing loss or ocular lesions is also due to mutation in the COL4A5 gene (303630.0006). </p><p>Renieri et al. (1996) used SSCP analysis of the entire coding sequence of the COL4A5 gene to search for mutations in 201 unrelated Italian patients with Alport syndrome. A causative mutation was found in only 45% of individuals. The authors noted that SSCP analysis can potentially detect 80% of mutations. They suggested that their failure to detect a higher percentage of mutations in these patients may indicate that disease-causing mutations occur not only in the exons but also in the promoter region, within introns, or in alternatively spliced exons. They commented that an alternative explanation could be the involvement of other genes within the Xq region. </p><p>Knebelmann et al. (1996) screened 48 of the 51 exons of the COL4A5 gene by SSCP analysis and identified 64 mutations and 10 sequence variants among 131 unrelated Alport syndrome patients, which represents a mutation detection rate of approximately 50%. They reported that all different types of mutations were observed in juvenile-type Alport syndrome whereas only glycine substitutions and splicing mutations were observed in adult-type Alport syndrome. </p><p>Barker et al. (1996) identified a novel mutation in the COL4A5 gene (L1649R; 303630.0014) in Alport syndrome patients. In contrast to most described COL4A5 mutations in Alport syndrome, each of which accounts for the disease in a single family, the L1649R mutation was found in over 7% of the 121 families studied. In males with the L1649R mutation, renal failure preceded hearing loss by approximately 10 years, and the cumulative frequency of hearing loss was 60% by age 60. Barker et al. (1996) noted that substantial variability occurs in the ages at appearance of end-stage renal disease and functional hearing loss among individuals with identical mutations, emphasizing the fallibility of generalizations about the phenotype associated with a specific mutation that is observed in only a small number of Alport syndrome patients. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Cytogenetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Hertz et al. (2005) reported a 32-year-old man with Alport syndrome in whom no mutation in COL4A5 was found by SSCP, although there was an abnormal band pattern on Southern blot analysis. Long-range and inverse PCR revealed an inversion on the long arm of the X chromosome with a proximal breakpoint within intron 8 of the COL4A5 gene. Hertz et al. (2005) stated that this was the first report of inversion of the X chromosome associated with Alport syndrome. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>History</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>Guthrie (1902) reported a family in which 12 individuals showed recurrent hematuria. At the time of this report, none of the affected individuals exhibited evidence of chronic renal damage. Hurst (1923) described the development of uremia in several members of this family. Alport (1927) reported that many family members showed deafness as well as renal disease, and that affected males died of uremia whereas affected females lived to old age. As a result, Alport's name became synonymous with a familial progressive nephropathy, first manifested by hematuria and associated with deafness, that is particularly severe in affected males. </p><p>A kindred reported by Ohlsson (1963) differed from others reported in that myopia was a conspicuous feature and the impairment of renal function in the affected males was relatively mild, even in 2 over age 30 years. Devriendt et al. (1998) suggested that the brothers reported by Ohlsson (1963) may have had Donnai-Barrow syndrome (222448). </p><p>Miyoshi et al. (1975) found antithyroid antibodies in the serum of multiple persons with Alport syndrome in 2 Japanese kindreds. Hyperthyroidism was present in 1 and histologic changes of thyroiditis in a second. They proposed that Alport syndrome may be an immunologic disorder. </p><p>Atkin et al. (1986) proposed the existence of 6 subtypes of Alport syndrome among reported kindreds: I, classic juvenile Alport syndrome with deafness; II, X-linked juvenile Alport syndrome with deafness; III, X-linked adult Alport syndrome with deafness; IV, X-linked adult Alport syndrome without deafness or other defect, that is, purely renal disease; V, autosomal Alport syndrome with deafness and thrombocytopathia (see 155100); and VI, autosomal recessive juvenile Alport syndrome with deafness (see 203780). A possibly distinct entity was hereditary nephritis without deafness (161900) reported by Reyersbach and Butler (1954) and Dockhorn (1967). </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>Animal Model</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>Baumal et al. (1991) reported study of the apparently homologous disorder in a family of Samoyed dogs. The authenticity of the model was established by demonstration of mutation in the COL4A5 gene (Zheng et al., 1992). Lees et al. (1999) described an X-linked form of hereditary nephritis in a family of mixed breed dogs located in Navasota, Texas. The glomerular basement membrane of Navasota (NAV) hereditary nephritis males was shown to undergo ultrastructural changes identical to those observed in Alport syndrome and in Samoyed hereditary glomerular nephritis. A hereditary nephritis in English cocker spaniels (Robinson et al., 1985; Steward and MacDougall, 1984) appears to be a model of autosomal recessive Alport syndrome (Lees et al. (1997, 1998)). </p><p>NAV dogs exhibit typical clinical, histologic, immunochemical, and genetic features of X-linked Alport syndrome. In a colony of NAV dogs, Cox et al. (2003) identified the causative mutation: a 10-bp deletion in exon 9 of the COL4A5 gene, resulting in a frameshift and premature stop codon. Another form of canine X-linked Alport syndrome had been reported by Bernard and Valli (1977) and shown by Zheng et al. (1994) to be caused by a G-to-T substitution in exon 35 of COL4A5, causing a premature stop codon. </p><p>Kalluri et al. (1997) developed a new mouse model of human anti-GBM disease to characterize better the genetic determinants of cell-mediated injury. The findings in studies of the model suggested that anti-GBM antibodies in mice facilitate disease only in MHC haplotypes capable of generating nephritogenic lymphocytes with special T-cell repertoires. </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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<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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Beathard and Granholm (1977); Chazan et al. (1971); Chuang and Reuter
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(1974); Cochat et al. (1988); Crawfurd and Toghill (1968); Crawfurd
|
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(1988); Crawfurd (1988); DiBona (1983); Flinter et al. (1988); Goyer
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et al. (1968); Grunfeld et al. (1973); Kenya et al. (1977); MacNeill
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and Shaw (1973); Marin and Tyler (1961); Mulrow et al. (1963); Perrin
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et al. (1980); Preus and Fraser (1971); Purriel et al. (1970);
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Rumpelt (1980); Schneider (1963); Shaw and Glover (1961); Sherman et
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al. (1974); Spear and Slusser (1972); Spear et al. (1970); Spear
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(1984); Stanbury and Castleman (1968); Tishler (1978); Tishler
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(1979); Turner (1970); Westley (1970); Whalen et al. (1961);
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Williamson (1961)
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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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<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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Alport, A. C.
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<strong>Hereditary familial congenital haemorrhagic nephritis.</strong>
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Brit. Med. J. 1: 504-506, 1927.
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[PubMed: 20773074]
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[Full Text: https://doi.org/10.1136/bmj.1.3454.504]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Arnott, E. J., Crawfurd, M. D. A., Toghill, P. J.
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<strong>Anterior lenticonus and Alport's syndrome.</strong>
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Brit. J. Ophthal. 50: 390-403, 1966.
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[PubMed: 5947587]
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[Full Text: https://doi.org/10.1136/bjo.50.7.390]
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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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Atkin, C. L., Gregory, M. C., Border, W. A.
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<strong>Alport syndrome. In: Schrier, R. W.; Gottschalk, C. W. (eds.): Strauss and Welt's Diseases of the Kidney. (4th ed.)</strong>
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Boston: Little, Brown (pub.) 1986.
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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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Atkin, C. L., Hasstedt, S. J., Menlove, L., Cannon, L., Kirschner, N., Schwartz, C., Nguyen, K., Skolnick, M.
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<strong>Mapping of Alport syndrome to the long arm of the X chromosome.</strong>
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Am. J. Hum. Genet. 42: 249-255, 1988.
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[PubMed: 3422540]
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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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Barker, D. F., Hostikka, S. L., Zhou, J., Chow, L. T., Oliphant, A. R., Gerken, S. C., Gregory, M. C., Skolnick, M. H., Atkin, C. L., Tryggvason, K.
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<strong>Identification of mutations in the COL4A5 collagen gene in Alport syndrome.</strong>
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Science 248: 1224-1227, 1990.
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[PubMed: 2349482]
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[Full Text: https://doi.org/10.1126/science.2349482]
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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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Barker, D. F., Pruchno, C. J., Jiang, X., Atkin, C. L., Stone, E. M., Denison, J. C., Fain, P. R., Gregory, M. C.
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<strong>A mutation causing Alport syndrome with tardive hearing loss is common in the western United States.</strong>
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Am. J. Hum. Genet. 58: 1157-1165, 1996.
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[PubMed: 8651292]
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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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Baumal, R., Thorner, P., Valli, V. E. O., McInnes, R., Marrano, P., Jacobs, R., Binnington, A., Bloedow, A. G.
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<strong>Renal disease in carrier female dogs with X-linked hereditary nephritis: implications for female patients with this disease.</strong>
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Am. J. Path. 139: 751-764, 1991.
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[PubMed: 1928300]
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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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Beathard, G. A., Granholm, N. A.
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<strong>Development of the characteristic ultrastructural lesion of hereditary nephritis during the course of the disease.</strong>
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Am. J. Med. 62: 751-756, 1977.
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[PubMed: 860725]
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[Full Text: https://doi.org/10.1016/0002-9343(77)90878-6]
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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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Bernard, M. A., Valli, V. E.
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<strong>Familial renal disease in Samoyed dogs.</strong>
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Canad. Vet. J. 18: 181-189, 1977.
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[PubMed: 884645]
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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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Burke, J. P., Clearkin, L. G., Talbot, J. F.
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<strong>Recurrent corneal epithelial erosions in Alport's syndrome.</strong>
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Acta Ophthal. 69: 555-557, 1991.
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[PubMed: 1750330]
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[Full Text: https://doi.org/10.1111/j.1755-3768.1991.tb02041.x]
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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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Chazan, J. A., Zacks, J., Cohen, J. J., Garella, S.
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<strong>Hereditary nephritis: clinical spectrum and mode of inheritance in five new kindreds.</strong>
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Am. J. Med. 50: 764-771, 1971.
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[PubMed: 5089851]
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[Full Text: https://doi.org/10.1016/0002-9343(71)90184-7]
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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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Chuang, V. P., Reuter, S. R.
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<strong>Angiographic features of Alport's syndrome: hereditary nephritis.</strong>
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Am. J. Roentgen. Radium Ther. Nucl. Med. 121: 539-543, 1974.
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[PubMed: 4846569]
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[Full Text: https://doi.org/10.2214/ajr.121.3.539]
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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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Churg, J., Sherman, R. L.
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<strong>Pathology of hereditary nephritis.</strong>
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Arch. Path. 95: 374-379, 1973.
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Zhou, J., Hertz, J. M., Tryggvason, K.
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<strong>Mutation in the alpha-5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: detection by denaturing gradient gel electrophoresis of a PCR product.</strong>
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