3170 lines
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Entry
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- *608593 - COMPLEMENT FACTOR H-RELATED 5; CFHR5
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*608593</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#geneFamily">Gene Family</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/608593">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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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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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<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 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-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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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="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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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="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000134389;t=ENST00000256785" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=81494" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=608593" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</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="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</div>
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<div id="mimDnaLinksFold" 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.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000134389;t=ENST00000256785" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_030787,XM_011510020" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_030787" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=608593" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</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="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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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="mimProteinLinksFold" 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://hprd.org/summary?hprd_id=06508&isoform_id=06508_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/CFHR5" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/13195239,13540563,23396597,84627551,116283370,119611674,189054216,298905393,767910533,2462496044,2462513924" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/Q9BXR6" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</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="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" 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="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</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="mimGeneInfoLinksFold" 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="http://biogps.org/#goto=genereport&id=81494" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000134389;t=ENST00000256785" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR5" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=CFHR5" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+81494" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/CFHR5" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:81494" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/81494" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr1&hgg_gene=ENST00000256785.5&hgg_start=196975034&hgg_end=197009678&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</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="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="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="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 id="mimClinicalResourcesLinksFold" class="panel-collapse collapse 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://medlineplus.gov/genetics/gene/cfhr5" 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=608593[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>
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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="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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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="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608593[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000134389" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=CFHR5" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=CFHR5" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=CFHR5" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=CFHR5&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA134937417" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</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="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/gene/HGNC:24668" 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://v1.marrvel.org/search/gene/CFHR5#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/81494/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=81494" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></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="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" 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="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</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="mimCellularPathwaysLinksFold" 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.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:81494" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=CFHR5&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</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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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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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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</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="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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608593
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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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COMPLEMENT FACTOR H-RELATED 5; CFHR5
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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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FACTOR H-RELATED GENE 5; FHR5<br />
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CFHL5
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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="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CFHR5" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CFHR5</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/1/1533?start=-3&limit=10&highlight=1533">1q31.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:196975034-197009678&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">1:196,975,034-197,009,678</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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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="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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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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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/1/1533?start=-3&limit=10&highlight=1533">
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1q31.3
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Nephropathy due to CFHR5 deficiency
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/614809"> 614809 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</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">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/608593" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/608593" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</span>
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
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<p>CFHR5 is a complement activator that binds to necrotic human endothelial cells, activated mesangial cells, and extracellular matrix (<a href="#8" class="mim-tip-reference" title="Rudnick, R. B., Chen, Q., Stea, E. D., Hartmann, A., Papac-Milicevic, N., Person, F., Wiesener, M., Binder, C. J., Wiech, T., Skerka, C., Zipfel, P. F. <strong>FHR5 binds to laminins, uses separate C3b and surface-binding sites, and activates complement on malondialdehyde-acetaldehyde surfaces.</strong> J. Immun. 200: 2280-2290, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29483359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29483359</a>] [<a href="https://doi.org/10.4049/jimmunol.1701641" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29483359">Rudnick et al., 2018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29483359" 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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</span>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
|
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<p><a href="#6" class="mim-tip-reference" title="McRae, J. L., Cowan, P. J., Power, D. A., Mitchelhill, K. I., Kemp, B. E., Morgan, B. P., Murphy, B. F. <strong>Human factor H-related protein 5 (FHR-5): a new complement-associated protein.</strong> J. Biol. Chem. 276: 6747-6754, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11058592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11058592</a>] [<a href="https://doi.org/10.1074/jbc.M007495200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11058592">McRae et al. (2001)</a> identified a novel human plasma protein homologous to complement factor H (CFH; <a href="/entry/134370">134370</a>) and related proteins, which they designated FHR5. The protein is a universal component of complement deposits, when complement is detected immunohistochemically in vivo. <a href="#6" class="mim-tip-reference" title="McRae, J. L., Cowan, P. J., Power, D. A., Mitchelhill, K. I., Kemp, B. E., Morgan, B. P., Murphy, B. F. <strong>Human factor H-related protein 5 (FHR-5): a new complement-associated protein.</strong> J. Biol. Chem. 276: 6747-6754, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11058592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11058592</a>] [<a href="https://doi.org/10.1074/jbc.M007495200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11058592">McRae et al. (2001)</a> identified CFHL5 by a monoclonal antibody raised using pathologic human glomerular preparations as the immunogen. CFHL5 was purified by affinity chromatography from complement-lysed erythrocytes and the peptide sequence was obtained. The cDNA was cloned from a human liver library; the deduced protein contains 551 amino acids organized into 9 short consensus repeat (SCR) motifs. CFHL5 is unique among the factor H-related proteins in that it contains 5 additional SCRs, homologous to SCRs 10-14 of factor H, which are not present in the other factor H-related proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11058592" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By FISH, radiation hybrid mapping, and genomic sequence analysis, <a href="#7" class="mim-tip-reference" title="McRae, J. L., Murphy, B. E., Eyre, H. J., Sutherland, G. R., Crawford, J., Cowan, P. J. <strong>Location and structure of the human FHR-5 gene.</strong> Genetica 114: 157-161, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12041828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12041828</a>] [<a href="https://doi.org/10.1023/a:1015114512924" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12041828">McRae et al. (2002)</a> mapped the CFHL5 gene to chromosome 1q32 between CFHL2 (<a href="/entry/600889">600889</a>) and the noncomplement protein factor XIIIb (F13B; <a href="/entry/134580">134580</a>), within the regulators of complement activation (RCA) gene cluster. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12041828" 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="#6" class="mim-tip-reference" title="McRae, J. L., Cowan, P. J., Power, D. A., Mitchelhill, K. I., Kemp, B. E., Morgan, B. P., Murphy, B. F. <strong>Human factor H-related protein 5 (FHR-5): a new complement-associated protein.</strong> J. Biol. Chem. 276: 6747-6754, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11058592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11058592</a>] [<a href="https://doi.org/10.1074/jbc.M007495200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11058592">McRae et al. (2001)</a> found that recombinant CFHL5, expressed in insect cells, bound C3b (<a href="/entry/120700">120700</a>) in vitro. The strong association of CFHL5 with tissue complement deposits in vivo suggested that CFHL5 functions in complement regulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11058592" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Abrera-Abeleda, M. A., Nishimura, C., Smith, J. L. H., Sethi, S., McRae, J. L., Murphy, B. F., Silvestri, G., Skerka, C., Jozsi, M., Zipfel, P. F., Hageman, G. S., Smith, R. J. H. <strong>Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease).</strong> J. Med. Genet. 43: 582-589, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16299065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16299065</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16299065[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2005.038315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16299065">Abrera-Abeleda et al. (2006)</a> noted that the first 2 SCRs of CFHR5 are similar to SCRs 6 and 7 of CFH and therefore have C-reactive protein (CRP; <a href="/entry/123260">123260</a>)- and heparan-binding properties. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16299065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Rudnick, R. B., Chen, Q., Stea, E. D., Hartmann, A., Papac-Milicevic, N., Person, F., Wiesener, M., Binder, C. J., Wiech, T., Skerka, C., Zipfel, P. F. <strong>FHR5 binds to laminins, uses separate C3b and surface-binding sites, and activates complement on malondialdehyde-acetaldehyde surfaces.</strong> J. Immun. 200: 2280-2290, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29483359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29483359</a>] [<a href="https://doi.org/10.4049/jimmunol.1701641" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29483359">Rudnick et al. (2018)</a> showed that human FHR5 bound laminin-521, the major constituent of glomerular basement membrane, and mesangial laminin-211. They also identified malondialdehyde-acetaldehyde (MAA) epitopes, which are exposed on the surface of human necrotic cells, as FHR5 ligands. Deletion analysis revealed that FHR5 bound laminin-521, heparin, human necrotic cells, and MAA epitopes via SCRs 5 through 7. In contrast, FHR5 bound C3b via SCRs 8 and 9. FHR5 competed with factor H for binding to oxidation-specific MAA epitopes and activated complement on MAA surfaces. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29483359" 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>Among 22 patients with biopsy-proven C3 glomerulopathy-3 (C3G3; <a href="/entry/614809">614809</a>), <a href="#1" class="mim-tip-reference" title="Abrera-Abeleda, M. A., Nishimura, C., Smith, J. L. H., Sethi, S., McRae, J. L., Murphy, B. F., Silvestri, G., Skerka, C., Jozsi, M., Zipfel, P. F., Hageman, G. S., Smith, R. J. H. <strong>Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease).</strong> J. Med. Genet. 43: 582-589, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16299065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16299065</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16299065[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2005.038315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16299065">Abrera-Abeleda et al. (2006)</a> found an association with 3 SNPs in the CFHR5 gene. The findings strengthened the hypothesis that complement control plays a role in the pathogenesis of the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16299065" 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 26 individuals with C3G3 from 11 families of Cypriot origin, <a href="#3" class="mim-tip-reference" title="Gale, D. P., Goicoechea de Jorge, E., Cook, H. T., Martinez-Barricarte, R., Hadjisavvas, A., McLean, A. G., Pusey, C. D., Pierides, A., Kyriacou, K., Athanasiou, Y., Voskarides, K., Deltas, C., Palmer, A., Fremeaux-Bacchi, V., Rodriguez de Cordoba, S., Maxwell, P. H., Pickering, M. C. <strong>Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.</strong> Lancet 376: 794-801, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20800271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20800271</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20800271[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/S0140-6736(10)60670-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20800271">Gale et al. (2010)</a> identified a heterozygous duplication of exons 2 and 3 of the CFHR5 gene (<a href="#0001">608593.0001</a>). The internal duplication was not seen in a set of 102 controls, but was found in 1 of 1,015 Cypriot controls. Although the precise pathomechanism was unclear, the findings of abnormal complement deposition in patient renal biopsies indicated a defect in the regulation of C3 (<a href="/entry/120700">120700</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20800271" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Athanasiou, Y., Voskarides, K., Gale, D. P., Damianou, L., Patsias, C., Zavros, M., Maxwell, P. H., Cook, H. T., Demosthenous, P., Hadjisavvas, A., Kyriacou, K., Zouvani, I., Pierides, A., Deltas, C. <strong>Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees.</strong> Clin. J. Am. Soc. Nephrol. 6: 1436-1446, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21566112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21566112</a>] [<a href="https://doi.org/10.2215/CJN.09541010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21566112">Athanasiou et al. (2011)</a> identified a heterozygous founder exon 2-3 duplication in the CFHR5 gene in several additional families of Cypriot origin with C3G3. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21566112" 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>Associations Pending Confirmation</em></strong></p><p>
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In 3 (4.6%) of 65 unrelated patients with atypical hemolytic uremic syndrome (AHUS; see <a href="/entry/235400">235400</a>), <a href="#10" class="mim-tip-reference" title="Westra, D., Vernon, K. A., Volokhina, E. B., Pickering, M. C., van de Kar, N. C. A. J., van den Heuvel, L. P. <strong>Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene.</strong> J. Hum. Genet. 57: 459-464, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22622361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22622361</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22622361[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/jhg.2012.57" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22622361">Westra et al. (2012)</a> identified 3 different heterozygous missense variants in the CFHR5 gene (<a href="#0003">608593.0003</a>-<a href="#0005">608593.0005</a>). <a href="#10" class="mim-tip-reference" title="Westra, D., Vernon, K. A., Volokhina, E. B., Pickering, M. C., van de Kar, N. C. A. J., van den Heuvel, L. P. <strong>Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene.</strong> J. Hum. Genet. 57: 459-464, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22622361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22622361</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22622361[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/jhg.2012.57" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22622361">Westra et al. (2012)</a> suggested that the variants may result in decreased complement regulation, although functional studies were not performed. The CFHR5 gene was chosen for study because of its role in other glomerular diseases (<a href="#1" class="mim-tip-reference" title="Abrera-Abeleda, M. A., Nishimura, C., Smith, J. L. H., Sethi, S., McRae, J. L., Murphy, B. F., Silvestri, G., Skerka, C., Jozsi, M., Zipfel, P. F., Hageman, G. S., Smith, R. J. H. <strong>Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease).</strong> J. Med. Genet. 43: 582-589, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16299065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16299065</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16299065[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2005.038315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16299065">Abrera-Abeleda et al., 2006</a>; <a href="#3" class="mim-tip-reference" title="Gale, D. P., Goicoechea de Jorge, E., Cook, H. T., Martinez-Barricarte, R., Hadjisavvas, A., McLean, A. G., Pusey, C. D., Pierides, A., Kyriacou, K., Athanasiou, Y., Voskarides, K., Deltas, C., Palmer, A., Fremeaux-Bacchi, V., Rodriguez de Cordoba, S., Maxwell, P. H., Pickering, M. C. <strong>Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.</strong> Lancet 376: 794-801, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20800271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20800271</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20800271[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/S0140-6736(10)60670-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20800271">Gale et al., 2010</a>). <a href="#10" class="mim-tip-reference" title="Westra, D., Vernon, K. A., Volokhina, E. B., Pickering, M. C., van de Kar, N. C. A. J., van den Heuvel, L. P. <strong>Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene.</strong> J. Hum. Genet. 57: 459-464, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22622361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22622361</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22622361[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/jhg.2012.57" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22622361">Westra et al. (2012)</a> also cited a study that found CFHR5 variants in 2 (1.4%) of 144 patients with AHUS (<a href="#5" class="mim-tip-reference" title="Maga, T. K., Nishimura, C. J., Weaver, A. E., Frees, K. L., Smith, R. J. H. <strong>Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.</strong> Hum. Mutat. 31: E1445-E1460, 2010. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20513133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20513133</a>] [<a href="https://doi.org/10.1002/humu.21256" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20513133">Maga et al., 2010</a>), suggesting an association between variation in this gene and AHUS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22622361+16299065+20513133+20800271" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>5 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608593[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<p>By linkage and candidate gene analyses in 2 Cypriot families with C3 glomerulopathy-3 (C3G3; <a href="/entry/614809">614809</a>), <a href="#3" class="mim-tip-reference" title="Gale, D. P., Goicoechea de Jorge, E., Cook, H. T., Martinez-Barricarte, R., Hadjisavvas, A., McLean, A. G., Pusey, C. D., Pierides, A., Kyriacou, K., Athanasiou, Y., Voskarides, K., Deltas, C., Palmer, A., Fremeaux-Bacchi, V., Rodriguez de Cordoba, S., Maxwell, P. H., Pickering, M. C. <strong>Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.</strong> Lancet 376: 794-801, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20800271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20800271</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20800271[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/S0140-6736(10)60670-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20800271">Gale et al. (2010)</a> identified a heterozygous duplication of exons 2 and 3 of the CFHR5 gene, predicting a novel protein with duplicated SCR domains 1 and 2. This mutant protein was detected in patient serum. The internal duplication was not seen in a set of 102 controls, but was found in 1 of 1,015 Cypriot controls. Screening of this gene in additional patients of Cypriot origin identified several more with the same duplication. In total, 26 patients from 11 ostensibly unrelated families with renal disease carried the mutation. Haplotype analysis performed on 5 families indicated a founder effect. All had microscopic hematuria, and many developed macroscopic hematuria following upper respiratory tract infections. Renal biopsies showed glomerulonephritis with C3 (<a href="/entry/120700">120700</a>) deposits in the subendothelium and mesangium. The risk of progression appeared to be greater in men than in women with the disease. In vitro functional expression studies showed that the mutant protein bound less well to surface-bound complement compared to wildtype. However, the mutant protein circulated and showed enhanced complement factor I (CFI; <a href="/entry/217030">217030</a>) compared to wildtype CFHR5. Although the precise pathomechanism was unclear, the findings of abnormal complement deposition in patient renal biopsies indicated a defect in regulation of C3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20800271" 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>Mutation Function</em></strong></p><p>
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<a href="#4" class="mim-tip-reference" title="Kadkhodayi-Kholghi, N., Bhatt, J. S., Gor, J., McDermott, L. C., Gale, D. P., Perkins, S. J. <strong>The solution structure of the complement deregulator FHR5 reveals a compact dimer and provides new insights into CFHR5 nephropathy.</strong> J. Biol. Chem. 295: 16342-16358, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32928961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32928961</a>] [<a href="https://doi.org/10.1074/jbc.RA120.015132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32928961">Kadkhodayi-Kholghi et al. (2020)</a> noted that the exon 2-3 duplication in the CFHR5 gene results in the production of an elongated FHR5 protein with 2 extra N-terminal SCR-1/2 domains in tandem. Using detailed structural analysis, the authors determined that FHR5 forms dimers and is a complement deregulator that competitively inhibits factor H (CFH; <a href="/entry/134370">134370</a>), an important regulator of C3b (<a href="/entry/120700">120700</a>) activation at host cell surfaces. They provided evidence that the duplication mutation alters the FHR5 dimer structure and that the mutant protein competes with factor H binding and thus antagonizes the regulatory function of factor H, resulting in an amplification of complement activation at host cell surfaces when C3 deposition reaches a critical density. The findings were consistent with a gain-of-function effect rather than a deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32928961" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs565457964 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs565457964;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs565457964?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs565457964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs565457964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000030802 OR RCV000455834 OR RCV000767072 OR RCV001171343 OR RCV004576953" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030802, RCV000455834, RCV000767072, RCV001171343, RCV004576953" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030802...</a>
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<p>In a girl with C3 glomerulopathy-3 (C3G3; <a href="/entry/614809">614809</a>) and persistent renal disease following a streptococcal infection, <a href="#9" class="mim-tip-reference" title="Vernon, K. A., Goicoechea de Jorge, E., Hall, A. E., Fremeaux-Bacchi, V., Aitman, T. J., Cook, H. T., Hangartner, R., Koziell, A., Pickering, M. C. <strong>Acute presentation and persistent glomerulonephritis following streptococcal infection in a patient with heterozygous complement factor H-related protein 5 deficiency.</strong> Am. J. Kidney Dis. 60: 121-125, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22503529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22503529</a>] [<a href="https://doi.org/10.1053/j.ajkd.2012.02.329" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22503529">Vernon et al. (2012)</a> identified a heterozygous 1-bp insertion (485dupA) in exon 4 of the CFHR5 gene, resulting in a frameshift and premature termination (Glu163ArgfsTer34). The mutation was not found in 198 controls in this study, but was present in her unaffected mother and sister. The patient presented at age 7 years with dark-colored proteinuria after a 10-day history of fever and sore throat. After treatment for the infection, she had persistent hematuria and proteinuria. Nine months later, kidney biopsy showed mesangial hypercellularity, segmental endocapillary hypercellularity, and segmental capillary wall double contours. There was mesangial and capillary deposition of C3 (<a href="/entry/120700">120700</a>), C9 (<a href="/entry/120940">120940</a>), and CFHR5. Electron microscopy showed thickening of the glomerular basement membranes, intramembranous electron-dense deposits, and subendothelial and subepithelial deposits. Serum CFHR5 was decreased to 37.3% of control values. Treatment with an angiotensin receptor (see <a href="/entry/106165">106165</a>) blocker resulted in improved kidney function. The presence of the mutation in her unaffected mother and sister suggested that it is not sufficient to cause disease, but likely acts as a susceptibility factor for the development of glomerulonephritis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22503529" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs201265664 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs201265664;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs201265664?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs201265664" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs201265664" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>This variant is classified as a variant of unknown significance because its contribution to atypical hemolytic uremic syndrome (AHUS; see <a href="/entry/235400">235400</a>) has not been confirmed.</p><p>In a man who developed AHUS at age 45 years, <a href="#10" class="mim-tip-reference" title="Westra, D., Vernon, K. A., Volokhina, E. B., Pickering, M. C., van de Kar, N. C. A. J., van den Heuvel, L. P. <strong>Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene.</strong> J. Hum. Genet. 57: 459-464, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22622361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22622361</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22622361[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/jhg.2012.57" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22622361">Westra et al. (2012)</a> identified a heterozygous 1308G-T transversion in the CFHR5 gene, resulting in a trp436-to-cys (W436C) substitution in the SCR7 domain. The mutation was not found in 152 controls, nor in the exomes of 5,400 control individuals from large databases. The patient developed end-stage renal failure necessitating transplantation; there was evidence of disease recurrence in the graft. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22622361" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs318240754 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs318240754;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs318240754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs318240754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000030804 OR RCV000059807" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030804, RCV000059807" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030804...</a>
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<p>This variant is classified as a variant of unknown significance because its contribution to atypical hemolytic uremic syndrome (AHUS; see <a href="/entry/235400">235400</a>) has not been confirmed.</p><p>In a girl who developed atypical hemolytic uremic syndrome at age 8 years, <a href="#10" class="mim-tip-reference" title="Westra, D., Vernon, K. A., Volokhina, E. B., Pickering, M. C., van de Kar, N. C. A. J., van den Heuvel, L. P. <strong>Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene.</strong> J. Hum. Genet. 57: 459-464, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22622361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22622361</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22622361[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/jhg.2012.57" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22622361">Westra et al. (2012)</a> identified a heterozygous 314T-G transversion in the CFHR5 gene, resulting in a leu105-to-arg (L105R) substitution in SCR2. The mutation was not found in 149 controls, nor in the exomes of 5,400 control individuals from large databases. The patient had end-stage renal failure necessitating transplantation; there was evidence of disease recurrence in the graft. Serum analysis showed significantly increased sC5b-9 activity levels, indicating increased complement activation. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22622361" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 VARIANT OF UNKNOWN SIGNIFICANCE</strong>
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CFHR5, SER195THR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs318240755 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs318240755;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs318240755?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs318240755" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs318240755" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000030805 OR RCV000059808 OR RCV001101408 OR RCV002482925" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030805, RCV000059808, RCV001101408, RCV002482925" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030805...</a>
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<span class="mim-text-font">
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<p>This variant is classified as a variant of unknown significance because its contribution to atypical hemolytic uremic syndrome (AHUS; see <a href="/entry/235400">235400</a>) has not been confirmed.</p><p>In a patient with AHUS, <a href="#10" class="mim-tip-reference" title="Westra, D., Vernon, K. A., Volokhina, E. B., Pickering, M. C., van de Kar, N. C. A. J., van den Heuvel, L. P. <strong>Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene.</strong> J. Hum. Genet. 57: 459-464, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22622361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22622361</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22622361[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/jhg.2012.57" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22622361">Westra et al. (2012)</a> identified a heterozygous 583T-A transversion in the CFHR5 gene, resulting in a ser195-to-thr (S195T) substitution in the SCR3 domain. The mutation was not found in 146 controls, nor in the exomes of 5,400 control individuals from large databases. No clinical information was available for this patient, and functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22622361" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Abrera-Abeleda, M. A., Nishimura, C., Smith, J. L. H., Sethi, S., McRae, J. L., Murphy, B. F., Silvestri, G., Skerka, C., Jozsi, M., Zipfel, P. F., Hageman, G. S., Smith, R. J. H.
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<strong>Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease).</strong>
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J. Med. Genet. 43: 582-589, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16299065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16299065</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16299065[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16299065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2005.038315" target="_blank">Full Text</a>]
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Athanasiou, Y., Voskarides, K., Gale, D. P., Damianou, L., Patsias, C., Zavros, M., Maxwell, P. H., Cook, H. T., Demosthenous, P., Hadjisavvas, A., Kyriacou, K., Zouvani, I., Pierides, A., Deltas, C.
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<strong>Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees.</strong>
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Clin. J. Am. Soc. Nephrol. 6: 1436-1446, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21566112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21566112</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21566112" 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/10.2215/CJN.09541010" target="_blank">Full Text</a>]
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<a id="Gale2010" class="mim-anchor"></a>
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Gale, D. P., Goicoechea de Jorge, E., Cook, H. T., Martinez-Barricarte, R., Hadjisavvas, A., McLean, A. G., Pusey, C. D., Pierides, A., Kyriacou, K., Athanasiou, Y., Voskarides, K., Deltas, C., Palmer, A., Fremeaux-Bacchi, V., Rodriguez de Cordoba, S., Maxwell, P. H., Pickering, M. C.
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<strong>Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.</strong>
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Lancet 376: 794-801, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20800271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20800271</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20800271[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20800271" 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/S0140-6736(10)60670-8" target="_blank">Full Text</a>]
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<a id="Kadkhodayi-Kholghi2020" class="mim-anchor"></a>
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Kadkhodayi-Kholghi, N., Bhatt, J. S., Gor, J., McDermott, L. C., Gale, D. P., Perkins, S. J.
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<strong>The solution structure of the complement deregulator FHR5 reveals a compact dimer and provides new insights into CFHR5 nephropathy.</strong>
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J. Biol. Chem. 295: 16342-16358, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32928961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32928961</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32928961" 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/10.1074/jbc.RA120.015132" target="_blank">Full Text</a>]
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Maga, T. K., Nishimura, C. J., Weaver, A. E., Frees, K. L., Smith, R. J. H.
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<strong>Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.</strong>
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Hum. Mutat. 31: E1445-E1460, 2010. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20513133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20513133</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20513133" 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/10.1002/humu.21256" target="_blank">Full Text</a>]
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<a id="McRae2001" class="mim-anchor"></a>
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McRae, J. L., Cowan, P. J., Power, D. A., Mitchelhill, K. I., Kemp, B. E., Morgan, B. P., Murphy, B. F.
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<strong>Human factor H-related protein 5 (FHR-5): a new complement-associated protein.</strong>
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J. Biol. Chem. 276: 6747-6754, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11058592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11058592</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11058592" 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/10.1074/jbc.M007495200" target="_blank">Full Text</a>]
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McRae, J. L., Murphy, B. E., Eyre, H. J., Sutherland, G. R., Crawford, J., Cowan, P. J.
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<strong>Location and structure of the human FHR-5 gene.</strong>
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Genetica 114: 157-161, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12041828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12041828</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12041828" 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/10.1023/a:1015114512924" target="_blank">Full Text</a>]
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<a id="Rudnick2018" class="mim-anchor"></a>
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Rudnick, R. B., Chen, Q., Stea, E. D., Hartmann, A., Papac-Milicevic, N., Person, F., Wiesener, M., Binder, C. J., Wiech, T., Skerka, C., Zipfel, P. F.
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<strong>FHR5 binds to laminins, uses separate C3b and surface-binding sites, and activates complement on malondialdehyde-acetaldehyde surfaces.</strong>
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J. Immun. 200: 2280-2290, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29483359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29483359</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29483359" 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/10.4049/jimmunol.1701641" target="_blank">Full Text</a>]
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<a id="Vernon2012" class="mim-anchor"></a>
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Vernon, K. A., Goicoechea de Jorge, E., Hall, A. E., Fremeaux-Bacchi, V., Aitman, T. J., Cook, H. T., Hangartner, R., Koziell, A., Pickering, M. C.
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<strong>Acute presentation and persistent glomerulonephritis following streptococcal infection in a patient with heterozygous complement factor H-related protein 5 deficiency.</strong>
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Am. J. Kidney Dis. 60: 121-125, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22503529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22503529</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22503529" 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/10.1053/j.ajkd.2012.02.329" target="_blank">Full Text</a>]
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<a id="Westra2012" class="mim-anchor"></a>
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Westra, D., Vernon, K. A., Volokhina, E. B., Pickering, M. C., van de Kar, N. C. A. J., van den Heuvel, L. P.
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<strong>Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene.</strong>
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J. Hum. Genet. 57: 459-464, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22622361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22622361</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22622361[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22622361" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/jhg.2012.57" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Cassandra L. Kniffin - updated : 03/24/2021
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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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Matthew B. Gross - updated : 05/23/2018<br>Bao Lige - updated : 05/23/2018<br>Cassandra L. Kniffin - updated : 9/27/2012<br>Cassandra L. Kniffin - updated : 9/11/2012<br>Victor A. McKusick - updated : 9/13/2006<br>Victor A. McKusick - updated : 4/4/2005
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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="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 4/20/2004
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</span>
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</div>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 03/30/2021
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</span>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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ckniffin : 03/24/2021<br>mgross : 05/23/2018<br>mgross : 05/23/2018<br>carol : 10/20/2017<br>carol : 05/08/2017<br>carol : 09/05/2013<br>alopez : 10/1/2012<br>ckniffin : 9/27/2012<br>ckniffin : 9/11/2012<br>carol : 10/5/2006<br>ckniffin : 9/28/2006<br>alopez : 9/15/2006<br>terry : 9/13/2006<br>wwang : 8/3/2005<br>wwang : 4/15/2005<br>wwang : 4/7/2005<br>terry : 4/4/2005<br>tkritzer : 4/23/2004<br>tkritzer : 4/20/2004
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</span>
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>*</strong> 608593
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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COMPLEMENT FACTOR H-RELATED 5; CFHR5
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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FACTOR H-RELATED GENE 5; FHR5<br />
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CFHL5
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</span>
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</h4>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: CFHR5</em></strong>
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</span>
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</p>
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</div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 1q31.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:196,975,034-197,009,678 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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1q31.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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Nephropathy due to CFHR5 deficiency
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</span>
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</td>
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<td>
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<span class="mim-font">
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614809
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<br />
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>CFHR5 is a complement activator that binds to necrotic human endothelial cells, activated mesangial cells, and extracellular matrix (Rudnick et al., 2018). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</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>McRae et al. (2001) identified a novel human plasma protein homologous to complement factor H (CFH; 134370) and related proteins, which they designated FHR5. The protein is a universal component of complement deposits, when complement is detected immunohistochemically in vivo. McRae et al. (2001) identified CFHL5 by a monoclonal antibody raised using pathologic human glomerular preparations as the immunogen. CFHL5 was purified by affinity chromatography from complement-lysed erythrocytes and the peptide sequence was obtained. The cDNA was cloned from a human liver library; the deduced protein contains 551 amino acids organized into 9 short consensus repeat (SCR) motifs. CFHL5 is unique among the factor H-related proteins in that it contains 5 additional SCRs, homologous to SCRs 10-14 of factor H, which are not present in the other factor H-related proteins. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By FISH, radiation hybrid mapping, and genomic sequence analysis, McRae et al. (2002) mapped the CFHL5 gene to chromosome 1q32 between CFHL2 (600889) and the noncomplement protein factor XIIIb (F13B; 134580), within the regulators of complement activation (RCA) gene cluster. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</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>McRae et al. (2001) found that recombinant CFHL5, expressed in insect cells, bound C3b (120700) in vitro. The strong association of CFHL5 with tissue complement deposits in vivo suggested that CFHL5 functions in complement regulation. </p><p>Abrera-Abeleda et al. (2006) noted that the first 2 SCRs of CFHR5 are similar to SCRs 6 and 7 of CFH and therefore have C-reactive protein (CRP; 123260)- and heparan-binding properties. </p><p>Rudnick et al. (2018) showed that human FHR5 bound laminin-521, the major constituent of glomerular basement membrane, and mesangial laminin-211. They also identified malondialdehyde-acetaldehyde (MAA) epitopes, which are exposed on the surface of human necrotic cells, as FHR5 ligands. Deletion analysis revealed that FHR5 bound laminin-521, heparin, human necrotic cells, and MAA epitopes via SCRs 5 through 7. In contrast, FHR5 bound C3b via SCRs 8 and 9. FHR5 competed with factor H for binding to oxidation-specific MAA epitopes and activated complement on MAA surfaces. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Family</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>For information on this gene family, see 134371.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Among 22 patients with biopsy-proven C3 glomerulopathy-3 (C3G3; 614809), Abrera-Abeleda et al. (2006) found an association with 3 SNPs in the CFHR5 gene. The findings strengthened the hypothesis that complement control plays a role in the pathogenesis of the disease. </p><p>In 26 individuals with C3G3 from 11 families of Cypriot origin, Gale et al. (2010) identified a heterozygous duplication of exons 2 and 3 of the CFHR5 gene (608593.0001). The internal duplication was not seen in a set of 102 controls, but was found in 1 of 1,015 Cypriot controls. Although the precise pathomechanism was unclear, the findings of abnormal complement deposition in patient renal biopsies indicated a defect in the regulation of C3 (120700). </p><p>Athanasiou et al. (2011) identified a heterozygous founder exon 2-3 duplication in the CFHR5 gene in several additional families of Cypriot origin with C3G3. Functional studies of the variant and studies of patient cells were not performed. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
|
|
In 3 (4.6%) of 65 unrelated patients with atypical hemolytic uremic syndrome (AHUS; see 235400), Westra et al. (2012) identified 3 different heterozygous missense variants in the CFHR5 gene (608593.0003-608593.0005). Westra et al. (2012) suggested that the variants may result in decreased complement regulation, although functional studies were not performed. The CFHR5 gene was chosen for study because of its role in other glomerular diseases (Abrera-Abeleda et al., 2006; Gale et al., 2010). Westra et al. (2012) also cited a study that found CFHR5 variants in 2 (1.4%) of 144 patients with AHUS (Maga et al., 2010), suggesting an association between variation in this gene and AHUS. </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>ALLELIC VARIANTS</strong>
|
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</span>
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<strong>5 Selected Examples):</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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 C3 GLOMERULOPATHY 3</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CFHR5, EX2-3DUP
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<br />
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ClinVar: RCV004576913
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>By linkage and candidate gene analyses in 2 Cypriot families with C3 glomerulopathy-3 (C3G3; 614809), Gale et al. (2010) identified a heterozygous duplication of exons 2 and 3 of the CFHR5 gene, predicting a novel protein with duplicated SCR domains 1 and 2. This mutant protein was detected in patient serum. The internal duplication was not seen in a set of 102 controls, but was found in 1 of 1,015 Cypriot controls. Screening of this gene in additional patients of Cypriot origin identified several more with the same duplication. In total, 26 patients from 11 ostensibly unrelated families with renal disease carried the mutation. Haplotype analysis performed on 5 families indicated a founder effect. All had microscopic hematuria, and many developed macroscopic hematuria following upper respiratory tract infections. Renal biopsies showed glomerulonephritis with C3 (120700) deposits in the subendothelium and mesangium. The risk of progression appeared to be greater in men than in women with the disease. In vitro functional expression studies showed that the mutant protein bound less well to surface-bound complement compared to wildtype. However, the mutant protein circulated and showed enhanced complement factor I (CFI; 217030) compared to wildtype CFHR5. Although the precise pathomechanism was unclear, the findings of abnormal complement deposition in patient renal biopsies indicated a defect in regulation of C3. </p><p><strong><em>Mutation Function</em></strong></p><p>
|
|
Kadkhodayi-Kholghi et al. (2020) noted that the exon 2-3 duplication in the CFHR5 gene results in the production of an elongated FHR5 protein with 2 extra N-terminal SCR-1/2 domains in tandem. Using detailed structural analysis, the authors determined that FHR5 forms dimers and is a complement deregulator that competitively inhibits factor H (CFH; 134370), an important regulator of C3b (120700) activation at host cell surfaces. They provided evidence that the duplication mutation alters the FHR5 dimer structure and that the mutant protein competes with factor H binding and thus antagonizes the regulatory function of factor H, resulting in an amplification of complement activation at host cell surfaces when C3 deposition reaches a critical density. The findings were consistent with a gain-of-function effect rather than a deficiency. </p>
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</span>
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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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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0002 C3 GLOMERULOPATHY 3</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CFHR5, 1-BP INS, 485A
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<br />
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SNP: rs565457964,
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gnomAD: rs565457964,
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ClinVar: RCV000030802, RCV000455834, RCV000767072, RCV001171343, RCV004576953
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a girl with C3 glomerulopathy-3 (C3G3; 614809) and persistent renal disease following a streptococcal infection, Vernon et al. (2012) identified a heterozygous 1-bp insertion (485dupA) in exon 4 of the CFHR5 gene, resulting in a frameshift and premature termination (Glu163ArgfsTer34). The mutation was not found in 198 controls in this study, but was present in her unaffected mother and sister. The patient presented at age 7 years with dark-colored proteinuria after a 10-day history of fever and sore throat. After treatment for the infection, she had persistent hematuria and proteinuria. Nine months later, kidney biopsy showed mesangial hypercellularity, segmental endocapillary hypercellularity, and segmental capillary wall double contours. There was mesangial and capillary deposition of C3 (120700), C9 (120940), and CFHR5. Electron microscopy showed thickening of the glomerular basement membranes, intramembranous electron-dense deposits, and subendothelial and subepithelial deposits. Serum CFHR5 was decreased to 37.3% of control values. Treatment with an angiotensin receptor (see 106165) blocker resulted in improved kidney function. The presence of the mutation in her unaffected mother and sister suggested that it is not sufficient to cause disease, but likely acts as a susceptibility factor for the development of glomerulonephritis. </p>
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</span>
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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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 VARIANT OF UNKNOWN SIGNIFICANCE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CFHR5, TRP436CYS
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<br />
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SNP: rs201265664,
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gnomAD: rs201265664,
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ClinVar: RCV000030803, RCV000059806
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</span>
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<p>This variant is classified as a variant of unknown significance because its contribution to atypical hemolytic uremic syndrome (AHUS; see 235400) has not been confirmed.</p><p>In a man who developed AHUS at age 45 years, Westra et al. (2012) identified a heterozygous 1308G-T transversion in the CFHR5 gene, resulting in a trp436-to-cys (W436C) substitution in the SCR7 domain. The mutation was not found in 152 controls, nor in the exomes of 5,400 control individuals from large databases. The patient developed end-stage renal failure necessitating transplantation; there was evidence of disease recurrence in the graft. Functional studies were not performed. </p>
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<strong>.0004 VARIANT OF UNKNOWN SIGNIFICANCE</strong>
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CFHR5, LEU105ARG
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SNP: rs318240754,
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ClinVar: RCV000030804, RCV000059807
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<p>This variant is classified as a variant of unknown significance because its contribution to atypical hemolytic uremic syndrome (AHUS; see 235400) has not been confirmed.</p><p>In a girl who developed atypical hemolytic uremic syndrome at age 8 years, Westra et al. (2012) identified a heterozygous 314T-G transversion in the CFHR5 gene, resulting in a leu105-to-arg (L105R) substitution in SCR2. The mutation was not found in 149 controls, nor in the exomes of 5,400 control individuals from large databases. The patient had end-stage renal failure necessitating transplantation; there was evidence of disease recurrence in the graft. Serum analysis showed significantly increased sC5b-9 activity levels, indicating increased complement activation. Functional studies were not performed. </p>
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<strong>.0005 VARIANT OF UNKNOWN SIGNIFICANCE</strong>
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CFHR5, SER195THR
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<br />
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SNP: rs318240755,
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gnomAD: rs318240755,
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ClinVar: RCV000030805, RCV000059808, RCV001101408, RCV002482925
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<p>This variant is classified as a variant of unknown significance because its contribution to atypical hemolytic uremic syndrome (AHUS; see 235400) has not been confirmed.</p><p>In a patient with AHUS, Westra et al. (2012) identified a heterozygous 583T-A transversion in the CFHR5 gene, resulting in a ser195-to-thr (S195T) substitution in the SCR3 domain. The mutation was not found in 146 controls, nor in the exomes of 5,400 control individuals from large databases. No clinical information was available for this patient, and functional studies were not performed. </p>
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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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<ol>
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Abrera-Abeleda, M. A., Nishimura, C., Smith, J. L. H., Sethi, S., McRae, J. L., Murphy, B. F., Silvestri, G., Skerka, C., Jozsi, M., Zipfel, P. F., Hageman, G. S., Smith, R. J. H.
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<strong>Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease).</strong>
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J. Med. Genet. 43: 582-589, 2006.
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[PubMed: 16299065]
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[Full Text: https://doi.org/10.1136/jmg.2005.038315]
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</li>
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Athanasiou, Y., Voskarides, K., Gale, D. P., Damianou, L., Patsias, C., Zavros, M., Maxwell, P. H., Cook, H. T., Demosthenous, P., Hadjisavvas, A., Kyriacou, K., Zouvani, I., Pierides, A., Deltas, C.
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<strong>Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees.</strong>
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Clin. J. Am. Soc. Nephrol. 6: 1436-1446, 2011.
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[PubMed: 21566112]
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[Full Text: https://doi.org/10.2215/CJN.09541010]
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</li>
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<li>
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<p class="mim-text-font">
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Gale, D. P., Goicoechea de Jorge, E., Cook, H. T., Martinez-Barricarte, R., Hadjisavvas, A., McLean, A. G., Pusey, C. D., Pierides, A., Kyriacou, K., Athanasiou, Y., Voskarides, K., Deltas, C., Palmer, A., Fremeaux-Bacchi, V., Rodriguez de Cordoba, S., Maxwell, P. H., Pickering, M. C.
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<strong>Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.</strong>
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Lancet 376: 794-801, 2010.
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[PubMed: 20800271]
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[Full Text: https://doi.org/10.1016/S0140-6736(10)60670-8]
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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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Kadkhodayi-Kholghi, N., Bhatt, J. S., Gor, J., McDermott, L. C., Gale, D. P., Perkins, S. J.
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<strong>The solution structure of the complement deregulator FHR5 reveals a compact dimer and provides new insights into CFHR5 nephropathy.</strong>
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J. Biol. Chem. 295: 16342-16358, 2020.
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[PubMed: 32928961]
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[Full Text: https://doi.org/10.1074/jbc.RA120.015132]
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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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Maga, T. K., Nishimura, C. J., Weaver, A. E., Frees, K. L., Smith, R. J. H.
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<strong>Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.</strong>
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Hum. Mutat. 31: E1445-E1460, 2010. Note: Electronic Article.
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[PubMed: 20513133]
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[Full Text: https://doi.org/10.1002/humu.21256]
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</li>
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<li>
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<p class="mim-text-font">
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McRae, J. L., Cowan, P. J., Power, D. A., Mitchelhill, K. I., Kemp, B. E., Morgan, B. P., Murphy, B. F.
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<strong>Human factor H-related protein 5 (FHR-5): a new complement-associated protein.</strong>
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J. Biol. Chem. 276: 6747-6754, 2001.
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[PubMed: 11058592]
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[Full Text: https://doi.org/10.1074/jbc.M007495200]
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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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McRae, J. L., Murphy, B. E., Eyre, H. J., Sutherland, G. R., Crawford, J., Cowan, P. J.
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<strong>Location and structure of the human FHR-5 gene.</strong>
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Genetica 114: 157-161, 2002.
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[PubMed: 12041828]
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[Full Text: https://doi.org/10.1023/a:1015114512924]
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<li>
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<p class="mim-text-font">
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Rudnick, R. B., Chen, Q., Stea, E. D., Hartmann, A., Papac-Milicevic, N., Person, F., Wiesener, M., Binder, C. J., Wiech, T., Skerka, C., Zipfel, P. F.
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<strong>FHR5 binds to laminins, uses separate C3b and surface-binding sites, and activates complement on malondialdehyde-acetaldehyde surfaces.</strong>
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J. Immun. 200: 2280-2290, 2018.
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[PubMed: 29483359]
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[Full Text: https://doi.org/10.4049/jimmunol.1701641]
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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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Vernon, K. A., Goicoechea de Jorge, E., Hall, A. E., Fremeaux-Bacchi, V., Aitman, T. J., Cook, H. T., Hangartner, R., Koziell, A., Pickering, M. C.
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<strong>Acute presentation and persistent glomerulonephritis following streptococcal infection in a patient with heterozygous complement factor H-related protein 5 deficiency.</strong>
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Am. J. Kidney Dis. 60: 121-125, 2012.
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[PubMed: 22503529]
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[Full Text: https://doi.org/10.1053/j.ajkd.2012.02.329]
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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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Westra, D., Vernon, K. A., Volokhina, E. B., Pickering, M. C., van de Kar, N. C. A. J., van den Heuvel, L. P.
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<strong>Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene.</strong>
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J. Hum. Genet. 57: 459-464, 2012.
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[PubMed: 22622361]
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[Full Text: https://doi.org/10.1038/jhg.2012.57]
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Contributors:
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 03/24/2021<br>Matthew B. Gross - updated : 05/23/2018<br>Bao Lige - updated : 05/23/2018<br>Cassandra L. Kniffin - updated : 9/27/2012<br>Cassandra L. Kniffin - updated : 9/11/2012<br>Victor A. McKusick - updated : 9/13/2006<br>Victor A. McKusick - updated : 4/4/2005
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<span class="mim-text-font">
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Victor A. McKusick : 4/20/2004
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alopez : 03/30/2021<br>ckniffin : 03/24/2021<br>mgross : 05/23/2018<br>mgross : 05/23/2018<br>carol : 10/20/2017<br>carol : 05/08/2017<br>carol : 09/05/2013<br>alopez : 10/1/2012<br>ckniffin : 9/27/2012<br>ckniffin : 9/11/2012<br>carol : 10/5/2006<br>ckniffin : 9/28/2006<br>alopez : 9/15/2006<br>terry : 9/13/2006<br>wwang : 8/3/2005<br>wwang : 4/15/2005<br>wwang : 4/7/2005<br>terry : 4/4/2005<br>tkritzer : 4/23/2004<br>tkritzer : 4/20/2004
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