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- *217030 - COMPLEMENT FACTOR I; CFI
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- OMIM
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<p>
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<span class="h4">*217030</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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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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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/217030">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 role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-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=ENSG00000205403;t=ENST00000394634" 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=3426" 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=217030" 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="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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</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=ENSG00000205403;t=ENST00000394634" 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_000204,NM_001318057,NM_001331035,NM_001375278,NM_001375279,NM_001375280,NM_001375281,NM_001375282,NM_001375283,NM_001375284,NR_164671,NR_164672,NR_164673,XM_006714210,XM_011531920,XM_047415653,XM_047415654" 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_000204" 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=217030" 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=01955&isoform_id=01955_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/CFI" 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/182607,1335054,1335055,1335056,5091478,18089117,119626655,119626656,119626657,158254682,194387702,317373341,578809103,767931844,972988100,1061899980,1677531926,1767344658,1767344668,1767344674,1767344703,1767344721,1767344727,1767344729,1812653237,2217350540,2217350543,2462597029,2462597031,2462597033,2462597035,2462597037,2462597039,2462597041,2462597043,2462597045" 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/P05156" 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=3426" 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=ENSG00000205403;t=ENST00000394634" 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=CFI" 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=CFI" 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+3426" 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/CFI" 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:3426" 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/3426" 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=chr4&hgg_gene=ENST00000645635.1&hgg_start=109730982&hgg_end=109801999&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>
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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://search.clinicalgenome.org/kb/genes/HGNC:5394" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/cfi" 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=217030[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>
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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=217030[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/ENSG00000205403" 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=CFI" 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=CFI" 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=CFI" 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="http://structure.bmc.lu.se/idbase/CFIbase/" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=CFI&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/PA29641" 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:5394" 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="https://www.mousephenotype.org/data/genes/MGI:105937" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/CFI#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="http://www.informatics.jax.org/marker/MGI:105937" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/3426/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=3426" 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><a href="https://zfin.org/ZDB-GENE-110922-7" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</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="mimCellularPathways">
|
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<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<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:3426" 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=CFI&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 234621005<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
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217030
|
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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 I; CFI
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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">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
COMPLEMENT COMPONENT I<br />
|
|
FACTOR I; FI<br />
|
|
C3b INACTIVATOR
|
|
</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>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CFI" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CFI</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>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/4/482?start=-3&limit=10&highlight=482">4q25</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr4:109730982-109801999&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'})">4:109,730,982-109,801,999</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=612923,615439,610984" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/4/482?start=-3&limit=10&highlight=482">
|
|
4q25
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
{Hemolytic uremic syndrome, atypical, susceptibility to, 3}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/612923"> 612923 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
|
</span>
|
|
</td>
|
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|
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</tr>
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|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
{Macular degeneration, age-related, 13, susceptibility to}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/615439"> 615439 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Complement factor I deficiency
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/610984"> 610984 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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<p>The CFI gene encodes complement factor I ('eye'), a serine proteinase in the complement pathway responsible for cleaving and inactivating the activities of C4b (<a href="/entry/120820">120820</a>) and C3b (see <a href="/entry/120700">120700</a>). Factor I is a plasma glycoprotein composed of 2 polypeptide chains linked by disulfide bonds. Both the light and heavy chains of factor I are encoded by the CFI gene (<a href="#3" class="mim-tip-reference" title="Catterall, C. F., Lyons, A., Sim, R. B., Day, A. J., Harris, T. J. R. <strong>Characterization of the primary amino acid sequence of human complement control protein factor I from an analysis of cDNA clones.</strong> Biochem. J. 242: 849-856, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2954545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2954545</a>] [<a href="https://doi.org/10.1042/bj2420849" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2954545">Catterall et al., 1987</a>). The light chain contains the serine protease domain (<a href="#19" class="mim-tip-reference" title="Vyse, T. J., Bates, G. P., Walport, M. J., Morley, B. J. <strong>The organization of the human complement factor I gene (IF): a member of the serine protease gene family.</strong> Genomics 24: 90-98, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7896293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7896293</a>] [<a href="https://doi.org/10.1006/geno.1994.1585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7896293">Vyse et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7896293+2954545" 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="#3" class="mim-tip-reference" title="Catterall, C. F., Lyons, A., Sim, R. B., Day, A. J., Harris, T. J. R. <strong>Characterization of the primary amino acid sequence of human complement control protein factor I from an analysis of cDNA clones.</strong> Biochem. J. 242: 849-856, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2954545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2954545</a>] [<a href="https://doi.org/10.1042/bj2420849" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2954545">Catterall et al. (1987)</a> isolated cDNA clones corresponding to the gene encoding complement factor I from a human liver cDNA library. The deduced 583-amino acid protein comprises both the heavy and light chains of component I, which are sequentially coded from the N terminal. The light chain N terminal is found at residue 322 after 4 basic residues, providing evidence that factor I is synthesized as a single chain polypeptide that is subsequently cleaved. Both the heavy (35.4 kD) and light (27.6 kD) chains contain 3 potential N-glycosylation sites. Northern blot analysis detected a 2.4-kb mRNA transcript. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2954545" 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="#7" class="mim-tip-reference" title="Goldberger, G., Bruns, G. A. P., Rits, M., Edge, M. D., Kwiatkowski, D. J. <strong>Human complement factor I: analysis of cDNA-derived primary structure and assignment of its gene to chromosome 4.</strong> J. Biol. Chem. 262: 10065-10071, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2956252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2956252</a>]" pmid="2956252">Goldberger et al. (1987)</a> also cloned the human CFI gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2956252" 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="#19" class="mim-tip-reference" title="Vyse, T. J., Bates, G. P., Walport, M. J., Morley, B. J. <strong>The organization of the human complement factor I gene (IF): a member of the serine protease gene family.</strong> Genomics 24: 90-98, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7896293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7896293</a>] [<a href="https://doi.org/10.1006/geno.1994.1585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7896293">Vyse et al. (1994)</a> determined that the CFI gene spans 63 kb and contains 13 exons, the first 8 of which encode the heavy chain and the last 5 the light chain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7896293" 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 somatic cell hybridization, <a href="#7" class="mim-tip-reference" title="Goldberger, G., Bruns, G. A. P., Rits, M., Edge, M. D., Kwiatkowski, D. J. <strong>Human complement factor I: analysis of cDNA-derived primary structure and assignment of its gene to chromosome 4.</strong> J. Biol. Chem. 262: 10065-10071, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2956252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2956252</a>]" pmid="2956252">Goldberger et al. (1987)</a> and <a href="#15" class="mim-tip-reference" title="Shiang, R., Murray, J. C., Divelbiss, J. E., Patil, S., Overhauser, J., Wasmuth, J. J., Buetow, K. H. <strong>A physical map for the long arm of chromosome 4 using D4S35, D4S1, MT2P1, ALB, AFP, GC, INP10, ADH3, EGF, IL2, FGG, FGB, and MNS, IF, FGFB. (Abstract)</strong> Cytogenet. Cell Genet. 46: 691, 1987."None>Shiang et al. (1987)</a> mapped the CFI gene to chromosome 4q23-q25. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2956252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Shiang, R., Murray, J. C., Morton, C. C., Buetow, K. H., Wasmuth, J. J., Olney, A. H., Sanger, W. G., Goldberger, G. <strong>Mapping of the human complement factor I gene to 4q25.</strong> Genomics 4: 82-86, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2563353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2563353</a>] [<a href="https://doi.org/10.1016/0888-7543(89)90318-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2563353">Shiang et al. (1989)</a> mapped the CFI locus to 4q25 by use of somatic cell hybrids, in situ hybridization, and genetic linkage with RFLP markers. They proposed that the order of loci was as follows: cen--GC--INP10--ADH3--EGF--IF--IL2--MNS--qter. By hybridization to fragments generated by low-frequency cutting restriction enzymes and pulsed field electrophoresis, <a href="#8" class="mim-tip-reference" title="Kolble, K., Buckle, V. J., Sim, R. <strong>A megarestriction map linking the genes for complement component I and epidermal growth factor within band 4q25. (Abstract)</strong> Cytogenet. Cell Genet. 51: 1024, 1989."None>Kolble et al. (1989)</a> showed that the CFI and EGF (<a href="/entry/131530">131530</a>) genes are located about 40 kb apart. The alcohol dehydrogenase cluster (<a href="/entry/103720">103720</a>) appeared to be more than 550 kb proximal to EGF, whereas CFI lies distal to EGF. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2563353" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#10" class="mim-tip-reference" title="Nakamura, S., Abe, K. <strong>Genetic polymorphism of human factor I (C3b inactivator).</strong> Hum. Genet. 71: 45-48, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3897024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3897024</a>] [<a href="https://doi.org/10.1007/BF00295667" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3897024">Nakamura and Abe (1985)</a> described 2 polymorphisms of the C3b inactivator gene, designated FI*A and FI*B, demonstrated by electrophoretic blotting technique. In the course of studying sera from 305 persons, <a href="#21" class="mim-tip-reference" title="Zhou, M., Larsen, B. <strong>A new polymorphic variant of human complement factor I.</strong> Hum. Genet. 82: 393, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2525517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2525517</a>] [<a href="https://doi.org/10.1007/BF00274006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2525517">Zhou and Larsen (1989)</a> identified a third variant, designated FI*C. Data on gene frequencies of allelic variants were tabulated by <a href="#12" class="mim-tip-reference" title="Roychoudhury, A. K., Nei, M. <strong>Human Polymorphic Genes: World Distribution.</strong> New York: Oxford Univ. Press (pub.) 1988."None>Roychoudhury and Nei (1988)</a>. <a href="#4" class="mim-tip-reference" title="Ding, M., Umetsu, K., Yuasa, I., Nakamura, S., Choi, W. Y., Suzuki, T. <strong>Polymorphism of complement component I in mongoloid populations: a new genetic variant IF A2.</strong> Hum. Hered. 41: 206-208, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1937494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1937494</a>] [<a href="https://doi.org/10.1159/000154002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1937494">Ding et al. (1991)</a> provided data on polymorphisms of the CFI gene in Chinese, Korean, and Japanese populations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3897024+2525517+1937494" 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>Complement Factor I Deficiency</em></strong></p><p>
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In 2 sibs with complement factor I deficiency (CFID; <a href="/entry/610984">610984</a>), <a href="#20" class="mim-tip-reference" title="Vyse, T. J., Morley, B. J., Bartok, I., Theodoridis, E. L., Davies, K. A., Webster, A. D. B., Walport, M. J. <strong>The molecular basis of hereditary complement factor I deficiency.</strong> J. Clin. Invest. 97: 925-933, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8613545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8613545</a>] [<a href="https://doi.org/10.1172/JCI118515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8613545">Vyse et al. (1996)</a> identified a homozygous mutation in the CFI gene (<a href="#0001">217030.0001</a>). An unrelated patient was compound heterozygous for 2 mutations in the CFI gene (<a href="#0001">217030.0001</a>; <a href="#0002">217030.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8613545" 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 2 Brazilian sisters, born of consanguineous parents, with complement factor I deficiency, <a href="#1" class="mim-tip-reference" title="Baracho, G. V., Nudelman, V., Isaac, L. <strong>Molecular characterization of homozygous hereditary factor I deficiency.</strong> Clin. Exp. Immun. 131: 280-286, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12562389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12562389</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12562389[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/10.1046/j.1365-2249.2003.02077.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12562389">Baracho et al. (2003)</a> identified a homozygous mutation in the CFI gene (<a href="#0003">217030.0003</a>). Each parent was heterozygous for the mutation. The older sister had recurrent infections and developed systemic lupus erythematosus (SLE; <a href="/entry/152700">152700</a>) with glomerulonephritis and the younger sister died at age 3 years of sepsis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12562389" 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="#14" class="mim-tip-reference" title="Servais, A., Fremeaux-Bacchi, V., Lequintrec, M., Salomon, R., Blouin, J., Knebelmann, B., Grunfeld, J.-P., Lesavre, P., Noel, L.-H., Fakhouri, F. <strong>Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uremic syndrome.</strong> J. Med. Genet. 44: 193-199, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17018561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17018561</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17018561[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.2006.045328" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17018561">Servais et al. (2007)</a> described 2 patients with factor I deficiency who developed glomerulonephritis with isolated C3 deposits. The authors called the disorder 'glomerulonephritis C3.' The patients were found to have heterozygous mutations in the CFI gene (see, e.g., <a href="#0007">217030.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17018561" 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>Susceptibility to Atypical Hemolytic Uremic Syndrome 3</em></strong></p><p>
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In 3 unrelated patients with atypical hemolytic uremic syndrome (AHUS3; <a href="/entry/612923">612923</a>), <a href="#6" class="mim-tip-reference" title="Fremeaux-Bacchi, V., Dragon-Durey, M.-A., Blouin, J., Vigneau, C., Kuypers, D., Boudailliez, B., Loirat, C., Rondeau, E., Fridman, W. H. <strong>Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome.</strong> J. Med. Genet. 41: e84, 2004. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15173250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15173250</a>] [<a href="https://doi.org/10.1136/jmg.2004.019083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15173250">Fremeaux-Bacchi et al. (2004)</a> identified 3 different heterozygous mutations in the CFI gene (<a href="#0003">217030.0003</a>-<a href="#0005">217030.0005</a>). In 2 cases, a nonsense mutation was associated with heterozygous factor I deficiency. In another case, a heterozygous mutation likely led to functional factor I deficiency. In 2 families, an asymptomatic parent also carried the mutation, suggesting incomplete penetrance and that heterozygous pathogenic mutations in the CFI gene confer susceptibility to the development of aHUS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15173250" 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="Caprioli, J., Noris, M., Brioschi, S., Pianetti, G., Castelletti, F., Bettinaglio, P., Mele, C., Bresin, E., Cassis, L., Gamba, S., Porrati, F., Bucchioni, S., Monteferrante, F., Fang, C. J., Liszewski, M. K., Kavanagh, D., Atkinson, J. P., Remuzzi, G. <strong>Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.</strong> Blood 108: 1267-1279, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16621965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16621965</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16621965[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/10.1182/blood-2005-10-007252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16621965">Caprioli et al. (2006)</a> identified 5 different CFI mutations (see, e.g., <a href="#0008">217030.0008</a>-<a href="#0009">217030.0009</a>) in 7 (4.5%) of 156 patients with AHUS. Three of 5 patients had decreased serum C3 levels. Normal renal function was preserved in 33.3% of patients with CFI mutations. Kidney transplant was not effective in preventing recurrence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16621965" 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>Susceptibility to Age-Related Macular Degeneration 13</em></strong></p><p>
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<a href="#18" class="mim-tip-reference" title="van de Ven, J. P. H., Nilsson, S. C., Tan, P. L., Buitendijk, G. H. S., Ristau, T., Mohlin, F. C., Nabuurs, S. B., Schoenmaker-Koller, F. E., Smailhodzic, D., Campochiaro, P. A., Zack, D. J., Duvvari, M. R., and 13 others. <strong>A functional variant in the CFI gene confers a high risk of age-related macular degeneration.</strong> Nature Genet. 45: 813-817, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23685748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23685748</a>] [<a href="https://doi.org/10.1038/ng.2640" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23685748">Van de Ven et al. (2013)</a> identified a missense mutation in the CFI gene (G119R; <a href="#0010">217030.0010</a>) in 20 of 3,567 patients with age-related macular degeneration (ARMD13; <a href="/entry/615439">615439</a>) and 1 of 3,937 controls, consistent with G119R conferring high risk for developing ARMD (odds ratio, 22.20; p = 3.79 x 10(-6)). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23685748" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Seddon, J. M., Yu, Y., Miller, E. C., Reynolds, R., Tan, P. L., Gowrisankar, S., Goldstein, J. I., Triebwasser, M., Anderson, H. E., Zerbib, J., Kavanagh, D., Souied, E., Katsanis, N., Daly, M. J., Atkinson, J. P., Raychaudhuri, S. <strong>Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.</strong> Nature Genet. 45: 1366-1370, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24036952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24036952</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24036952[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/ng.2741" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24036952">Seddon et al. (2013)</a> sequenced the exons of 681 genes within all reported ARMD loci and related pathways in 2,493 cases. First, each gene was tested for increased or decreased burden of rare variants in cases compared to controls. <a href="#13" class="mim-tip-reference" title="Seddon, J. M., Yu, Y., Miller, E. C., Reynolds, R., Tan, P. L., Gowrisankar, S., Goldstein, J. I., Triebwasser, M., Anderson, H. E., Zerbib, J., Kavanagh, D., Souied, E., Katsanis, N., Daly, M. J., Atkinson, J. P., Raychaudhuri, S. <strong>Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.</strong> Nature Genet. 45: 1366-1370, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24036952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24036952</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24036952[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/ng.2741" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24036952">Seddon et al. (2013)</a> found that 7.8% of ARMD cases compared to 2.3% of controls were carriers of rare missense CFI variants (odds ratio = 3.6; p = 2 x 10(-8)). There was a preponderance of dysfunctional variants in cases compared to controls. <a href="#13" class="mim-tip-reference" title="Seddon, J. M., Yu, Y., Miller, E. C., Reynolds, R., Tan, P. L., Gowrisankar, S., Goldstein, J. I., Triebwasser, M., Anderson, H. E., Zerbib, J., Kavanagh, D., Souied, E., Katsanis, N., Daly, M. J., Atkinson, J. P., Raychaudhuri, S. <strong>Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.</strong> Nature Genet. 45: 1366-1370, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24036952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24036952</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24036952[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/ng.2741" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24036952">Seddon et al. (2013)</a> then tested individual variants for association with disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24036952" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of 2 Tunisian Jewish families with ARMD, <a href="#11" class="mim-tip-reference" title="Pras, E., Kristal, D., Shoshany, N., Volodarsky, D., Vulih, I., Celniker, G., Isakov, O., Shomron, N., Pras, E. <strong>Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration.</strong> J. Med. Genet. 52: 484-492, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25986072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25986072</a>] [<a href="https://doi.org/10.1136/jmedgenet-2015-103130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25986072">Pras et al. (2015)</a> identified heterozygosity for a missense mutation in the CFI gene (V412M; <a href="#0011">217030.0011</a>) that segregated with disease in both families. Analysis of 200 unrelated Tunisian Jewish controls identified 10 heterozygotes, for an estimated carrier frequency of 5% in that population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25986072" 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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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=217030[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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<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> rs121964912 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121964912;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/rs121964912?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=rs121964912" 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=rs121964912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 sibs with complement factor I deficiency (CFID; <a href="/entry/610984">610984</a>), <a href="#20" class="mim-tip-reference" title="Vyse, T. J., Morley, B. J., Bartok, I., Theodoridis, E. L., Davies, K. A., Webster, A. D. B., Walport, M. J. <strong>The molecular basis of hereditary complement factor I deficiency.</strong> J. Clin. Invest. 97: 925-933, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8613545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8613545</a>] [<a href="https://doi.org/10.1172/JCI118515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8613545">Vyse et al. (1996)</a> identified a 1282A-T transversion in the CFI gene, resulting in a his400-to-leu (H400L) substitution. A third unrelated patient, who had been previously reported by <a href="#17" class="mim-tip-reference" title="Thompson, R. A., Lachmann, P. J. <strong>A second case of human C3b inhibitor (KAF) deficiency.</strong> Clin. Exp. Immun. 27: 23-29, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/849647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">849647</a>]" pmid="849647">Thompson and Lachmann (1977)</a> was compound heterozygous for H400L and a splice site mutation (<a href="#0002">217030.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=849647+8613545" 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> rs199688124 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199688124;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/rs199688124?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=rs199688124" 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=rs199688124" 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=RCV001993198 OR RCV002074443 OR RCV002507693 OR RCV004542199" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001993198, RCV002074443, RCV002507693, RCV004542199" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001993198...</a>
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<p>In a patient with complement factor I deficiency (CFID; <a href="/entry/610984">610984</a>) originally reported by <a href="#17" class="mim-tip-reference" title="Thompson, R. A., Lachmann, P. J. <strong>A second case of human C3b inhibitor (KAF) deficiency.</strong> Clin. Exp. Immun. 27: 23-29, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/849647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">849647</a>]" pmid="849647">Thompson and Lachmann (1977)</a>, <a href="#20" class="mim-tip-reference" title="Vyse, T. J., Morley, B. J., Bartok, I., Theodoridis, E. L., Davies, K. A., Webster, A. D. B., Walport, M. J. <strong>The molecular basis of hereditary complement factor I deficiency.</strong> J. Clin. Invest. 97: 925-933, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8613545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8613545</a>] [<a href="https://doi.org/10.1172/JCI118515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8613545">Vyse et al. (1996)</a> identified compound heterozygosity for 2 mutations in the CFI gene: an 801G-A transition in the last nucleotide of exon 5 and H400L (<a href="#0001">217030.0001</a>). The 801G-A transition is part of the donor splice site consensus sequence of the fifth intron, which was deleted from the mRNA transcript as a result of the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=849647+8613545" 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> rs758049059 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs758049059;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/rs758049059?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=rs758049059" 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=rs758049059" 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=RCV000400152 OR RCV002266943 OR RCV002500970 OR RCV004535248" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000400152, RCV002266943, RCV002500970, RCV004535248" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000400152...</a>
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<p>In 2 Brazilian sisters, born of consanguineous parents, with complement factor I deficiency (CFID; <a href="/entry/610984">610984</a>), <a href="#1" class="mim-tip-reference" title="Baracho, G. V., Nudelman, V., Isaac, L. <strong>Molecular characterization of homozygous hereditary factor I deficiency.</strong> Clin. Exp. Immun. 131: 280-286, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12562389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12562389</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12562389[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/10.1046/j.1365-2249.2003.02077.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12562389">Baracho et al. (2003)</a> identified a homozygous 2-bp insertion (1205insAT) in exon 11 of the CFI gene. The insertion resulted in premature termination of the protein. Each parent was heterozygous for the mutation. The older sister had recurrent infections and developed systemic lupus erythematosus (<a href="/entry/152700">152700</a>) with glomerulonephritis and the younger sister died at age 3 years of sepsis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12562389" 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>.0004 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3</strong>
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CFI, ARG456TER
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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> rs121964913 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121964913;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/rs121964913?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=rs121964913" 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=rs121964913" 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=RCV000012904 OR RCV001851811 OR RCV004532327" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012904, RCV001851811, RCV004532327" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012904...</a>
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<p>In a woman who developed atypical hemolytic uremic syndrome (AHUS3; <a href="/entry/612923">612923</a>) after pregnancy, <a href="#6" class="mim-tip-reference" title="Fremeaux-Bacchi, V., Dragon-Durey, M.-A., Blouin, J., Vigneau, C., Kuypers, D., Boudailliez, B., Loirat, C., Rondeau, E., Fridman, W. H. <strong>Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome.</strong> J. Med. Genet. 41: e84, 2004. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15173250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15173250</a>] [<a href="https://doi.org/10.1136/jmg.2004.019083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15173250">Fremeaux-Bacchi et al. (2004)</a> identified a heterozygous 1366C-T transition in the CFI gene, resulting in an arg456-to-ter (R456X) substitution. The mutation encodes a truncated protein that lacks the serine protease domain. The woman and her unaffected father, who also carried the mutation, showed decreased serum complement factor I. The woman also had decreased serum C3 and factor B, indicating consumptive depletion. The R456X mutation was not identified in 200 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15173250" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0005 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3</strong>
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CFI, ASP506VAL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121964914 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121964914;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=rs121964914" 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=rs121964914" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012905" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012905" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012905</a>
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<p>In a patient with atypical hemolytic uremic syndrome (AHUS3; <a href="/entry/612923">612923</a>), <a href="#6" class="mim-tip-reference" title="Fremeaux-Bacchi, V., Dragon-Durey, M.-A., Blouin, J., Vigneau, C., Kuypers, D., Boudailliez, B., Loirat, C., Rondeau, E., Fridman, W. H. <strong>Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome.</strong> J. Med. Genet. 41: e84, 2004. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15173250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15173250</a>] [<a href="https://doi.org/10.1136/jmg.2004.019083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15173250">Fremeaux-Bacchi et al. (2004)</a> identified a heterozygous A-to-T transversion in exon 13 of the CFI gene, resulting in an asp506-to-val (D506V) substitution close to the serine protease domain. At 17 months of age, the patient had HUS with severe microangiopathic hemolytic anemia, hypertension, and proteinuria. A relapse occurred 6 months later. Two years later, his renal function was normal, but he required antihypertensive treatment. His clinically unaffected mother also carried the mutation. Although serum factor I levels were normal in both the patient and his mother, both showed decreased serum C3 and factor B. The mutation was not identified in 200 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15173250" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3</strong>
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</span>
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</h4>
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</div>
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CFI, TRP528TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121964915 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121964915;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=rs121964915" 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=rs121964915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012906" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012906" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012906</a>
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</span>
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<span class="mim-text-font">
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<p>In a 26-year-old woman with atypical hemolytic uremic syndrome (AHUS3; <a href="/entry/612923">612923</a>), <a href="#6" class="mim-tip-reference" title="Fremeaux-Bacchi, V., Dragon-Durey, M.-A., Blouin, J., Vigneau, C., Kuypers, D., Boudailliez, B., Loirat, C., Rondeau, E., Fridman, W. H. <strong>Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome.</strong> J. Med. Genet. 41: e84, 2004. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15173250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15173250</a>] [<a href="https://doi.org/10.1136/jmg.2004.019083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15173250">Fremeaux-Bacchi et al. (2004)</a> identified a heterozygous G-to-A transition in the CFI gene, resulting in a trp528-to-ter (W528X) substitution predicted to result in a protein lacking the serine protease domain. The patient had recurrence of HUS following a second renal transplantation and thrombotic microangiopathy. Serum factor I levels were 36% of normal controls. The mutation was not identified in 200 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15173250" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0007" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0007 COMPLEMENT FACTOR I DEFICIENCY</strong>
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</h4>
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CFI, GLY243ASP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121964916 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121964916;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=rs121964916" 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=rs121964916" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012907" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012907" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012907</a>
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</span>
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<p>In a patient with factor I deficiency (CFID; <a href="/entry/610984">610984</a>) who developed glomerulonephritis with isolated C3 deposits, <a href="#14" class="mim-tip-reference" title="Servais, A., Fremeaux-Bacchi, V., Lequintrec, M., Salomon, R., Blouin, J., Knebelmann, B., Grunfeld, J.-P., Lesavre, P., Noel, L.-H., Fakhouri, F. <strong>Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uremic syndrome.</strong> J. Med. Genet. 44: 193-199, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17018561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17018561</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17018561[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.2006.045328" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17018561">Servais et al. (2007)</a> identified a heterozygous mutation in exon 6 of the CFI gene, resulting in a gly243-to-asp (G243D) substitution in a conserved region of the heavy chain possibly involved in ligand binding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17018561" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0008" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0008 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3</strong>
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</h4>
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CFI, ARG317TRP
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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> rs121964917 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121964917;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/rs121964917?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=rs121964917" 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=rs121964917" 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=RCV000012908 OR RCV001857336 OR RCV002496331" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012908, RCV001857336, RCV002496331" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012908...</a>
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<p>In 2 members of a family with atypical hemolytic uremic syndrome (AHUS3; <a href="/entry/612923">612923</a>), <a href="#2" class="mim-tip-reference" title="Caprioli, J., Noris, M., Brioschi, S., Pianetti, G., Castelletti, F., Bettinaglio, P., Mele, C., Bresin, E., Cassis, L., Gamba, S., Porrati, F., Bucchioni, S., Monteferrante, F., Fang, C. J., Liszewski, M. K., Kavanagh, D., Atkinson, J. P., Remuzzi, G. <strong>Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.</strong> Blood 108: 1267-1279, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16621965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16621965</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16621965[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/10.1182/blood-2005-10-007252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16621965">Caprioli et al. (2006)</a> identified a heterozygous 949C-T transition in exon 9 of the CFI gene, resulting in an arg317-to-trp (R317W) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16621965" 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>.0009 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3</strong>
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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> rs121964918 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121964918;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/rs121964918?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=rs121964918" 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=rs121964918" 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=RCV000012909 OR RCV002512998" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012909, RCV002512998" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012909...</a>
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<p>In 2 members of a family with atypical hemolytic uremic syndrome (AHUS3; <a href="/entry/612923">612923</a>), <a href="#2" class="mim-tip-reference" title="Caprioli, J., Noris, M., Brioschi, S., Pianetti, G., Castelletti, F., Bettinaglio, P., Mele, C., Bresin, E., Cassis, L., Gamba, S., Porrati, F., Bucchioni, S., Monteferrante, F., Fang, C. J., Liszewski, M. K., Kavanagh, D., Atkinson, J. P., Remuzzi, G. <strong>Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.</strong> Blood 108: 1267-1279, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16621965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16621965</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16621965[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/10.1182/blood-2005-10-007252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16621965">Caprioli et al. (2006)</a> identified a heterozygous 1555G-A transition in exon 13 of the CFI gene, resulting in an asp519-to-asn (D519N) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16621965" 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>.0010 MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO</strong>
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HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3, INCLUDED
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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> rs141853578 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs141853578;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/rs141853578?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=rs141853578" 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=rs141853578" 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=RCV000056257 OR RCV000056258 OR RCV001328281 OR RCV001439482 OR RCV003147337 OR RCV004586530 OR RCV005025109" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000056257, RCV000056258, RCV001328281, RCV001439482, RCV003147337, RCV004586530, RCV005025109" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000056257...</a>
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<p>In 3 unrelated patients with age-related macular degeneration (ARMD13; <a href="/entry/615439">615439</a>), <a href="#18" class="mim-tip-reference" title="van de Ven, J. P. H., Nilsson, S. C., Tan, P. L., Buitendijk, G. H. S., Ristau, T., Mohlin, F. C., Nabuurs, S. B., Schoenmaker-Koller, F. E., Smailhodzic, D., Campochiaro, P. A., Zack, D. J., Duvvari, M. R., and 13 others. <strong>A functional variant in the CFI gene confers a high risk of age-related macular degeneration.</strong> Nature Genet. 45: 813-817, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23685748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23685748</a>] [<a href="https://doi.org/10.1038/ng.2640" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23685748">van de Ven et al. (2013)</a> identified heterozygosity for a 355G-A transition in exon 3 of the CFI gene, resulting in a gly119-to-arg (G119R) substitution at a highly conserved residue in the CD5 domain. Genotyping of additional cases resulted in the G119R variant being identified in an overall total of 20 of 3,567 cases versus only 1 of 3,937 controls, consistent with G119R conferring high risk for developing ARMD (odds ratio, 22.20; p = 3.79 x 10(-6)). <a href="#18" class="mim-tip-reference" title="van de Ven, J. P. H., Nilsson, S. C., Tan, P. L., Buitendijk, G. H. S., Ristau, T., Mohlin, F. C., Nabuurs, S. B., Schoenmaker-Koller, F. E., Smailhodzic, D., Campochiaro, P. A., Zack, D. J., Duvvari, M. R., and 13 others. <strong>A functional variant in the CFI gene confers a high risk of age-related macular degeneration.</strong> Nature Genet. 45: 813-817, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23685748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23685748</a>] [<a href="https://doi.org/10.1038/ng.2640" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23685748">Van de Ven et al. (2013)</a> noted that most carriers of the G119R variant had stage 4 ARMD. The 1 control carrying the minor allele had numerous hard drusen in all 4 quadrants of the peripheral retina, but had normal macula in both eyes. <a href="#18" class="mim-tip-reference" title="van de Ven, J. P. H., Nilsson, S. C., Tan, P. L., Buitendijk, G. H. S., Ristau, T., Mohlin, F. C., Nabuurs, S. B., Schoenmaker-Koller, F. E., Smailhodzic, D., Campochiaro, P. A., Zack, D. J., Duvvari, M. R., and 13 others. <strong>A functional variant in the CFI gene confers a high risk of age-related macular degeneration.</strong> Nature Genet. 45: 813-817, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23685748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23685748</a>] [<a href="https://doi.org/10.1038/ng.2640" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23685748">Van de Ven et al. (2013)</a> also noted that the G119R variant had previously been reported in patients with atypical hemolytic uremic syndrome (AHUS3; <a href="/entry/612923">612923</a>) (<a href="#9" 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>; <a href="#5" class="mim-tip-reference" title="Fakhouri, F., Roumenina, L., Provot, F., Sallee, M., Caillard, S., Couzi, L., Essig, M., Ribes, D., Dragon-Durey, M.-A., Bridoux, F., Rondeau, E., Fremeaux-Bacci, V. <strong>Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations.</strong> J. Am. Soc. Nephrol. 21: 859-867, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20203157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20203157</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20203157[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/10.1681/ASN.2009070706" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20203157">Fakhouri et al., 2010</a>); however, there was no significant difference in renal function of ARMD patients with the G119R variant compared to ARMD patients without G119R. Plasma and sera carrying the G119R variant mediated C3b (see <a href="/entry/120700">120700</a>) degradation to a lesser extent than that of controls, and the mutant was both expressed and secreted at lower levels in HEK293 cells than wildtype protein. Studies in zebrafish retina demonstrated reduced activity by the G119R mutant in regulating vessel thickness and branching compared to wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20513133+20203157+23685748" 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>.0011 MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO</strong>
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CFI, VAL412MET (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs371432629;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs371432629</a>)
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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> rs371432629 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs371432629;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/rs371432629?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=rs371432629" 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=rs371432629" 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=RCV000201930 OR RCV002519582 OR RCV004020489 OR RCV004765323 OR RCV005031773" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000201930, RCV002519582, RCV004020489, RCV004765323, RCV005031773" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000201930...</a>
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<p>In affected members of 2 unrelated Tunisian Jewish families with age-related macular degeneration (ARMD13; <a href="/entry/615439">615439</a>), <a href="#11" class="mim-tip-reference" title="Pras, E., Kristal, D., Shoshany, N., Volodarsky, D., Vulih, I., Celniker, G., Isakov, O., Shomron, N., Pras, E. <strong>Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration.</strong> J. Med. Genet. 52: 484-492, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25986072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25986072</a>] [<a href="https://doi.org/10.1136/jmedgenet-2015-103130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25986072">Pras et al. (2015)</a> identified heterozygosity for a c.1234G-A transition (c.1234G-A, chr4.110,667,573, GRCh37) in the CFI gene, resulting in a val412-to-met (V412M) substitution at a conserved residue within the catalytic serine protease domain. The mutation, which segregated fully with disease in both families, was detected in 2 of 292 in-house exomes (allele frequency, 0.00685) as well as in 1 of 4,600 Caucasian genotypes but in none of 4,406 African American individuals in the 1000 Genomes Project. Analysis of 200 unrelated Tunisian Jewish controls identified 10 heterozygotes, for an estimated carrier frequency of 5% in that population. <a href="#11" class="mim-tip-reference" title="Pras, E., Kristal, D., Shoshany, N., Volodarsky, D., Vulih, I., Celniker, G., Isakov, O., Shomron, N., Pras, E. <strong>Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration.</strong> J. Med. Genet. 52: 484-492, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25986072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25986072</a>] [<a href="https://doi.org/10.1136/jmedgenet-2015-103130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25986072">Pras et al. (2015)</a> noted that in both families, carriers of the V412M variant presented with clinical features of ARMD at a much earlier age than for common ARMD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25986072" 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>Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration.</strong>
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J. Med. Genet. 52: 484-492, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25986072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25986072</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25986072" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>A physical map for the long arm of chromosome 4 using D4S35, D4S1, MT2P1, ALB, AFP, GC, INP10, ADH3, EGF, IL2, FGG, FGB, and MNS, IF, FGFB. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 46: 691, 1987.
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</p>
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</div>
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</li>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Shiang1989" class="mim-anchor"></a>
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|
<div class="">
|
|
<p class="mim-text-font">
|
|
Shiang, R., Murray, J. C., Morton, C. C., Buetow, K. H., Wasmuth, J. J., Olney, A. H., Sanger, W. G., Goldberger, G.
|
|
<strong>Mapping of the human complement factor I gene to 4q25.</strong>
|
|
Genomics 4: 82-86, 1989.
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|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2563353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2563353</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2563353" 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/10.1016/0888-7543(89)90318-2" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Thompson1977" class="mim-anchor"></a>
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<div class="">
|
|
<p class="mim-text-font">
|
|
Thompson, R. A., Lachmann, P. J.
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|
<strong>A second case of human C3b inhibitor (KAF) deficiency.</strong>
|
|
Clin. Exp. Immun. 27: 23-29, 1977.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/849647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">849647</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=849647" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="van de Ven2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
van de Ven, J. P. H., Nilsson, S. C., Tan, P. L., Buitendijk, G. H. S., Ristau, T., Mohlin, F. C., Nabuurs, S. B., Schoenmaker-Koller, F. E., Smailhodzic, D., Campochiaro, P. A., Zack, D. J., Duvvari, M. R., and 13 others.
|
|
<strong>A functional variant in the CFI gene confers a high risk of age-related macular degeneration.</strong>
|
|
Nature Genet. 45: 813-817, 2013.
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|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23685748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23685748</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23685748" 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/ng.2640" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Vyse1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vyse, T. J., Bates, G. P., Walport, M. J., Morley, B. J.
|
|
<strong>The organization of the human complement factor I gene (IF): a member of the serine protease gene family.</strong>
|
|
Genomics 24: 90-98, 1994.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7896293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7896293</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7896293" 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/10.1006/geno.1994.1585" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="20" class="mim-anchor"></a>
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<a id="Vyse1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Vyse, T. J., Morley, B. J., Bartok, I., Theodoridis, E. L., Davies, K. A., Webster, A. D. B., Walport, M. J.
|
|
<strong>The molecular basis of hereditary complement factor I deficiency.</strong>
|
|
J. Clin. Invest. 97: 925-933, 1996.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8613545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8613545</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8613545" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI118515" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="Zhou1989" class="mim-anchor"></a>
|
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<div class="">
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<p class="mim-text-font">
|
|
Zhou, M., Larsen, B.
|
|
<strong>A new polymorphic variant of human complement factor I.</strong>
|
|
Hum. Genet. 82: 393, 1989.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2525517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2525517</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2525517" 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/10.1007/BF00274006" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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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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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</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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Marla J. F. O'Neill - updated : 11/13/2015
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseContributors">
|
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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|
Ada Hamosh - updated : 1/7/2014<br>Marla J. F. O'Neill - updated : 9/30/2013<br>Cassandra L. Kniffin - updated : 7/27/2009<br>Cassandra L. Kniffin - reorganized : 5/4/2007<br>Cassandra L. Kniffin - updated : 5/1/2007
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</span>
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</div>
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</div>
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</div>
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<div>
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<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">
|
|
Creation Date:
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" 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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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
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</div>
|
|
<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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|
carol : 09/25/2022
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</span>
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</div>
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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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|
carol : 03/31/2021<br>alopez : 03/30/2021<br>alopez : 11/13/2015<br>alopez : 1/7/2014<br>alopez : 1/7/2014<br>carol : 9/30/2013<br>tpirozzi : 9/30/2013<br>carol : 9/30/2013<br>carol : 9/12/2013<br>carol : 12/12/2011<br>carol : 6/23/2011<br>ckniffin : 4/20/2011<br>carol : 7/30/2009<br>ckniffin : 7/27/2009<br>carol : 5/4/2007<br>ckniffin : 5/1/2007<br>alopez : 3/17/2004<br>carol : 8/4/1998<br>terry : 7/24/1998<br>dkim : 6/30/1998<br>terry : 8/4/1997<br>mark : 3/27/1996<br>terry : 3/19/1996<br>terry : 11/11/1994<br>davew : 7/1/1994<br>mimadm : 4/21/1994<br>pfoster : 4/4/1994<br>warfield : 3/30/1994<br>supermim : 3/16/1992
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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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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<strong>*</strong> 217030
|
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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 I; CFI
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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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<div >
|
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<p>
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
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</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
COMPLEMENT COMPONENT I<br />
|
|
FACTOR I; FI<br />
|
|
C3b INACTIVATOR
|
|
</span>
|
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</h4>
|
|
</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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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: CFI</em></strong>
|
|
</span>
|
|
</p>
|
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</div>
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<div>
|
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<p>
|
|
<span class="mim-text-font">
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|
|
|
<strong>SNOMEDCT:</strong> 234621005;
|
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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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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 4q25
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 4:109,730,982-109,801,999 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</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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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
4q25
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
{Hemolytic uremic syndrome, atypical, susceptibility to, 3}
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
612923
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
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|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Macular degeneration, age-related, 13, susceptibility to}
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
615439
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Complement factor I deficiency
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
610984
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The CFI gene encodes complement factor I ('eye'), a serine proteinase in the complement pathway responsible for cleaving and inactivating the activities of C4b (120820) and C3b (see 120700). Factor I is a plasma glycoprotein composed of 2 polypeptide chains linked by disulfide bonds. Both the light and heavy chains of factor I are encoded by the CFI gene (Catterall et al., 1987). The light chain contains the serine protease domain (Vyse et al., 1994). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Catterall et al. (1987) isolated cDNA clones corresponding to the gene encoding complement factor I from a human liver cDNA library. The deduced 583-amino acid protein comprises both the heavy and light chains of component I, which are sequentially coded from the N terminal. The light chain N terminal is found at residue 322 after 4 basic residues, providing evidence that factor I is synthesized as a single chain polypeptide that is subsequently cleaved. Both the heavy (35.4 kD) and light (27.6 kD) chains contain 3 potential N-glycosylation sites. Northern blot analysis detected a 2.4-kb mRNA transcript. </p><p>Goldberger et al. (1987) also cloned the human CFI gene. </p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</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>Vyse et al. (1994) determined that the CFI gene spans 63 kb and contains 13 exons, the first 8 of which encode the heavy chain and the last 5 the light chain. </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 somatic cell hybridization, Goldberger et al. (1987) and Shiang et al. (1987) mapped the CFI gene to chromosome 4q23-q25. </p><p>Shiang et al. (1989) mapped the CFI locus to 4q25 by use of somatic cell hybrids, in situ hybridization, and genetic linkage with RFLP markers. They proposed that the order of loci was as follows: cen--GC--INP10--ADH3--EGF--IF--IL2--MNS--qter. By hybridization to fragments generated by low-frequency cutting restriction enzymes and pulsed field electrophoresis, Kolble et al. (1989) showed that the CFI and EGF (131530) genes are located about 40 kb apart. The alcohol dehydrogenase cluster (103720) appeared to be more than 550 kb proximal to EGF, whereas CFI lies distal to EGF. </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>Nakamura and Abe (1985) described 2 polymorphisms of the C3b inactivator gene, designated FI*A and FI*B, demonstrated by electrophoretic blotting technique. In the course of studying sera from 305 persons, Zhou and Larsen (1989) identified a third variant, designated FI*C. Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988). Ding et al. (1991) provided data on polymorphisms of the CFI gene in Chinese, Korean, and Japanese populations. </p><p><strong><em>Complement Factor I Deficiency</em></strong></p><p>
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|
In 2 sibs with complement factor I deficiency (CFID; 610984), Vyse et al. (1996) identified a homozygous mutation in the CFI gene (217030.0001). An unrelated patient was compound heterozygous for 2 mutations in the CFI gene (217030.0001; 217030.0002). </p><p>In 2 Brazilian sisters, born of consanguineous parents, with complement factor I deficiency, Baracho et al. (2003) identified a homozygous mutation in the CFI gene (217030.0003). Each parent was heterozygous for the mutation. The older sister had recurrent infections and developed systemic lupus erythematosus (SLE; 152700) with glomerulonephritis and the younger sister died at age 3 years of sepsis. </p><p>Servais et al. (2007) described 2 patients with factor I deficiency who developed glomerulonephritis with isolated C3 deposits. The authors called the disorder 'glomerulonephritis C3.' The patients were found to have heterozygous mutations in the CFI gene (see, e.g., 217030.0007). </p><p><strong><em>Susceptibility to Atypical Hemolytic Uremic Syndrome 3</em></strong></p><p>
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|
In 3 unrelated patients with atypical hemolytic uremic syndrome (AHUS3; 612923), Fremeaux-Bacchi et al. (2004) identified 3 different heterozygous mutations in the CFI gene (217030.0003-217030.0005). In 2 cases, a nonsense mutation was associated with heterozygous factor I deficiency. In another case, a heterozygous mutation likely led to functional factor I deficiency. In 2 families, an asymptomatic parent also carried the mutation, suggesting incomplete penetrance and that heterozygous pathogenic mutations in the CFI gene confer susceptibility to the development of aHUS. </p><p>Caprioli et al. (2006) identified 5 different CFI mutations (see, e.g., 217030.0008-217030.0009) in 7 (4.5%) of 156 patients with AHUS. Three of 5 patients had decreased serum C3 levels. Normal renal function was preserved in 33.3% of patients with CFI mutations. Kidney transplant was not effective in preventing recurrence. </p><p><strong><em>Susceptibility to Age-Related Macular Degeneration 13</em></strong></p><p>
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|
Van de Ven et al. (2013) identified a missense mutation in the CFI gene (G119R; 217030.0010) in 20 of 3,567 patients with age-related macular degeneration (ARMD13; 615439) and 1 of 3,937 controls, consistent with G119R conferring high risk for developing ARMD (odds ratio, 22.20; p = 3.79 x 10(-6)). </p><p>Seddon et al. (2013) sequenced the exons of 681 genes within all reported ARMD loci and related pathways in 2,493 cases. First, each gene was tested for increased or decreased burden of rare variants in cases compared to controls. Seddon et al. (2013) found that 7.8% of ARMD cases compared to 2.3% of controls were carriers of rare missense CFI variants (odds ratio = 3.6; p = 2 x 10(-8)). There was a preponderance of dysfunctional variants in cases compared to controls. Seddon et al. (2013) then tested individual variants for association with disease. </p><p>In affected members of 2 Tunisian Jewish families with ARMD, Pras et al. (2015) identified heterozygosity for a missense mutation in the CFI gene (V412M; 217030.0011) that segregated with disease in both families. Analysis of 200 unrelated Tunisian Jewish controls identified 10 heterozygotes, for an estimated carrier frequency of 5% in that population. </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">
|
|
<strong>ALLELIC VARIANTS</strong>
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</span>
|
|
<strong>11 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">
|
|
<strong>.0001 COMPLEMENT FACTOR I DEFICIENCY</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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CFI, HIS400LEU
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<br />
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SNP: rs121964912,
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gnomAD: rs121964912,
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ClinVar: RCV000012901, RCV002465487
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 2 sibs with complement factor I deficiency (CFID; 610984), Vyse et al. (1996) identified a 1282A-T transversion in the CFI gene, resulting in a his400-to-leu (H400L) substitution. A third unrelated patient, who had been previously reported by Thompson and Lachmann (1977) was compound heterozygous for H400L and a splice site mutation (217030.0002). </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>
|
|
<span class="mim-font">
|
|
<strong>.0002 COMPLEMENT FACTOR I DEFICIENCY</strong>
|
|
</span>
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</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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|
CFI, IVS5DS G-A, -1
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<br />
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SNP: rs199688124,
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gnomAD: rs199688124,
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|
|
ClinVar: RCV001993198, RCV002074443, RCV002507693, RCV004542199
|
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|
</span>
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|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with complement factor I deficiency (CFID; 610984) originally reported by Thompson and Lachmann (1977), Vyse et al. (1996) identified compound heterozygosity for 2 mutations in the CFI gene: an 801G-A transition in the last nucleotide of exon 5 and H400L (217030.0001). The 801G-A transition is part of the donor splice site consensus sequence of the fifth intron, which was deleted from the mRNA transcript as a result of the mutation. </p>
|
|
</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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|
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</div>
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<div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 COMPLEMENT FACTOR I DEFICIENCY</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
CFI, 2-BP INS, 1205AT
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|
<br />
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|
|
SNP: rs758049059,
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|
|
gnomAD: rs758049059,
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|
|
ClinVar: RCV000400152, RCV002266943, RCV002500970, RCV004535248
|
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|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Brazilian sisters, born of consanguineous parents, with complement factor I deficiency (CFID; 610984), Baracho et al. (2003) identified a homozygous 2-bp insertion (1205insAT) in exon 11 of the CFI gene. The insertion resulted in premature termination of the protein. Each parent was heterozygous for the mutation. The older sister had recurrent infections and developed systemic lupus erythematosus (152700) with glomerulonephritis and the younger sister died at age 3 years of sepsis. </p>
|
|
</span>
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</div>
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
CFI, ARG456TER
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|
<br />
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|
|
SNP: rs121964913,
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|
|
|
gnomAD: rs121964913,
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|
|
|
ClinVar: RCV000012904, RCV001851811, RCV004532327
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a woman who developed atypical hemolytic uremic syndrome (AHUS3; 612923) after pregnancy, Fremeaux-Bacchi et al. (2004) identified a heterozygous 1366C-T transition in the CFI gene, resulting in an arg456-to-ter (R456X) substitution. The mutation encodes a truncated protein that lacks the serine protease domain. The woman and her unaffected father, who also carried the mutation, showed decreased serum complement factor I. The woman also had decreased serum C3 and factor B, indicating consumptive depletion. The R456X mutation was not identified in 200 control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CFI, ASP506VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121964914,
|
|
|
|
|
|
|
|
ClinVar: RCV000012905
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with atypical hemolytic uremic syndrome (AHUS3; 612923), Fremeaux-Bacchi et al. (2004) identified a heterozygous A-to-T transversion in exon 13 of the CFI gene, resulting in an asp506-to-val (D506V) substitution close to the serine protease domain. At 17 months of age, the patient had HUS with severe microangiopathic hemolytic anemia, hypertension, and proteinuria. A relapse occurred 6 months later. Two years later, his renal function was normal, but he required antihypertensive treatment. His clinically unaffected mother also carried the mutation. Although serum factor I levels were normal in both the patient and his mother, both showed decreased serum C3 and factor B. The mutation was not identified in 200 control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CFI, TRP528TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121964915,
|
|
|
|
|
|
|
|
ClinVar: RCV000012906
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 26-year-old woman with atypical hemolytic uremic syndrome (AHUS3; 612923), Fremeaux-Bacchi et al. (2004) identified a heterozygous G-to-A transition in the CFI gene, resulting in a trp528-to-ter (W528X) substitution predicted to result in a protein lacking the serine protease domain. The patient had recurrence of HUS following a second renal transplantation and thrombotic microangiopathy. Serum factor I levels were 36% of normal controls. The mutation was not identified in 200 control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 COMPLEMENT FACTOR I DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CFI, GLY243ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121964916,
|
|
|
|
|
|
|
|
ClinVar: RCV000012907
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with factor I deficiency (CFID; 610984) who developed glomerulonephritis with isolated C3 deposits, Servais et al. (2007) identified a heterozygous mutation in exon 6 of the CFI gene, resulting in a gly243-to-asp (G243D) substitution in a conserved region of the heavy chain possibly involved in ligand binding. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
CFI, ARG317TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121964917,
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|
|
|
|
|
gnomAD: rs121964917,
|
|
|
|
|
|
ClinVar: RCV000012908, RCV001857336, RCV002496331
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 members of a family with atypical hemolytic uremic syndrome (AHUS3; 612923), Caprioli et al. (2006) identified a heterozygous 949C-T transition in exon 9 of the CFI gene, resulting in an arg317-to-trp (R317W) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CFI, ASP519ASN
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs121964918,
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|
|
|
|
|
gnomAD: rs121964918,
|
|
|
|
|
|
ClinVar: RCV000012909, RCV002512998
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 members of a family with atypical hemolytic uremic syndrome (AHUS3; 612923), Caprioli et al. (2006) identified a heterozygous 1555G-A transition in exon 13 of the CFI gene, resulting in an asp519-to-asn (D519N) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3, INCLUDED
|
|
</span>
|
|
</div>
|
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|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
CFI, GLY119ARG
|
|
|
|
|
|
<br />
|
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|
|
SNP: rs141853578,
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|
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|
|
|
gnomAD: rs141853578,
|
|
|
|
|
|
ClinVar: RCV000056257, RCV000056258, RCV001328281, RCV001439482, RCV003147337, RCV004586530, RCV005025109
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
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<p>In 3 unrelated patients with age-related macular degeneration (ARMD13; 615439), van de Ven et al. (2013) identified heterozygosity for a 355G-A transition in exon 3 of the CFI gene, resulting in a gly119-to-arg (G119R) substitution at a highly conserved residue in the CD5 domain. Genotyping of additional cases resulted in the G119R variant being identified in an overall total of 20 of 3,567 cases versus only 1 of 3,937 controls, consistent with G119R conferring high risk for developing ARMD (odds ratio, 22.20; p = 3.79 x 10(-6)). Van de Ven et al. (2013) noted that most carriers of the G119R variant had stage 4 ARMD. The 1 control carrying the minor allele had numerous hard drusen in all 4 quadrants of the peripheral retina, but had normal macula in both eyes. Van de Ven et al. (2013) also noted that the G119R variant had previously been reported in patients with atypical hemolytic uremic syndrome (AHUS3; 612923) (Maga et al., 2010; Fakhouri et al., 2010); however, there was no significant difference in renal function of ARMD patients with the G119R variant compared to ARMD patients without G119R. Plasma and sera carrying the G119R variant mediated C3b (see 120700) degradation to a lesser extent than that of controls, and the mutant was both expressed and secreted at lower levels in HEK293 cells than wildtype protein. Studies in zebrafish retina demonstrated reduced activity by the G119R mutant in regulating vessel thickness and branching compared to wildtype. </p>
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<span class="mim-font">
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<strong>.0011 MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO</strong>
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</h4>
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<span class="mim-text-font">
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CFI, VAL412MET ({dbSNP rs371432629})
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<br />
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SNP: rs371432629,
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gnomAD: rs371432629,
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ClinVar: RCV000201930, RCV002519582, RCV004020489, RCV004765323, RCV005031773
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<p>In affected members of 2 unrelated Tunisian Jewish families with age-related macular degeneration (ARMD13; 615439), Pras et al. (2015) identified heterozygosity for a c.1234G-A transition (c.1234G-A, chr4.110,667,573, GRCh37) in the CFI gene, resulting in a val412-to-met (V412M) substitution at a conserved residue within the catalytic serine protease domain. The mutation, which segregated fully with disease in both families, was detected in 2 of 292 in-house exomes (allele frequency, 0.00685) as well as in 1 of 4,600 Caucasian genotypes but in none of 4,406 African American individuals in the 1000 Genomes Project. Analysis of 200 unrelated Tunisian Jewish controls identified 10 heterozygotes, for an estimated carrier frequency of 5% in that population. Pras et al. (2015) noted that in both families, carriers of the V412M variant presented with clinical features of ARMD at a much earlier age than for common ARMD. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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<strong>Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.</strong>
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Marla J. F. O'Neill - updated : 11/13/2015<br>Ada Hamosh - updated : 1/7/2014<br>Marla J. F. O'Neill - updated : 9/30/2013<br>Cassandra L. Kniffin - updated : 7/27/2009<br>Cassandra L. Kniffin - reorganized : 5/4/2007<br>Cassandra L. Kniffin - updated : 5/1/2007
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Victor A. McKusick : 6/3/1986
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carol : 09/25/2022<br>carol : 03/31/2021<br>alopez : 03/30/2021<br>alopez : 11/13/2015<br>alopez : 1/7/2014<br>alopez : 1/7/2014<br>carol : 9/30/2013<br>tpirozzi : 9/30/2013<br>carol : 9/30/2013<br>carol : 9/12/2013<br>carol : 12/12/2011<br>carol : 6/23/2011<br>ckniffin : 4/20/2011<br>carol : 7/30/2009<br>ckniffin : 7/27/2009<br>carol : 5/4/2007<br>ckniffin : 5/1/2007<br>alopez : 3/17/2004<br>carol : 8/4/1998<br>terry : 7/24/1998<br>dkim : 6/30/1998<br>terry : 8/4/1997<br>mark : 3/27/1996<br>terry : 3/19/1996<br>terry : 11/11/1994<br>davew : 7/1/1994<br>mimadm : 4/21/1994<br>pfoster : 4/4/1994<br>warfield : 3/30/1994<br>supermim : 3/16/1992
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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