4596 lines
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Entry
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- *612732 - COPROPORPHYRINOGEN OXIDASE; CPOX
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- OMIM
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<p>
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<span class="h4">*612732</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#history">History</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/612732">Table View</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000080819;t=ENST00000647941" 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=1371" 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=612732" 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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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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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=ENSG00000080819;t=ENST00000647941" 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_000097,XM_005247125,XM_047447473,XM_047447474,XM_047447475,XR_001740025" 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_000097" 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=612732" 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 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="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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<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=00417&isoform_id=00417_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/CPOX" 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/433888,825648,840693,16877987,23270828,23272125,41393599,62898694,67476671,119600260,158261303,194389160,530373935,2217341939,2217341941,2217341943,2462587275,2462587278,2462587280,2462587282" 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/P36551" 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 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=1371" 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=ENSG00000080819;t=ENST00000647941" 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=CPOX" 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=CPOX" 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+1371" 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/CPOX" 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:1371" 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/1371" 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=chr3&hgg_gene=ENST00000654582.1&hgg_start=98570488&hgg_end=98593611&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 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:2321" 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/cpox" 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=612732[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=612732[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/ENSG00000080819" 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=CPOX" 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=CPOX" 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=CPOX" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=CPOX&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/PA134979958" 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:2321" 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://flybase.org/reports/FBgn0021944.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:104841" 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/CPOX#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:104841" 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/1371/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=1371" 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-030131-9884" 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">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1371" 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=CPOX&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> 190915002, 238056003<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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612732
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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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COPROPORPHYRINOGEN OXIDASE; CPOX
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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CPO<br />
|
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CPX
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CPOX" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CPOX</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/3/494?start=-3&limit=10&highlight=494">3q11.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:98570488-98593611&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'})">3:98,570,488-98,593,611</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
|
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
|
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Phenotype
|
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<span class="hidden-sm hidden-xs pull-right">
|
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<a href="/clinicalSynopsis/table?mimNumber=121300,618892" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
|
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</span>
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</th>
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<th>
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Phenotype <br /> MIM number
|
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
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|
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<tr>
|
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<td rowspan="2">
|
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<span class="mim-font">
|
|
<a href="/geneMap/3/494?start=-3&limit=10&highlight=494">
|
|
3q11.2
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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Coproporphyria
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<a href="/entry/121300"> 121300 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
|
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</td>
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
|
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Harderoporphyria
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<a href="/entry/618892"> 618892 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
|
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
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<p>The CPOX gene encodes coproporphyrinogen oxidase (<a href="https://enzyme.expasy.org/EC/1.3.3.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 1.3.3.3</a>), the sixth enzyme of the heme biosynthetic pathway. This soluble protein localizes to the mitochondria and catalyzes the 2-step oxidative decarboxylation of the heme precursor coproporphyrinogen III to protoporphyrinogen IX via the tricarboxylic intermediate harderoporphyrinogen (summary by <a href="#7" class="mim-tip-reference" title="Hasanoglu, A., Balwani, M., Kasapkara, C. S., Ezgu, F. S., Okur, I., Tumer, L., Cakmak, A., Nazarenko, I., Yu, C., Clavero, S., Bishop, D. F., Desnick, R. J. <strong>Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.</strong> J. Inherit. Metab. Dis. 34: 225-231, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21103937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21103937</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21103937[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/10.1007/s10545-010-9237-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21103937">Hasanoglu et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21103937" 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="#8" class="mim-tip-reference" title="Kohno, H., Furukawa, T., Yoshinaga, T., Tokunaga, R., Taketani, S. <strong>Coproporphyrinogen oxidase: purification, molecular cloning, and induction of mRNA during erythroid differentiation.</strong> J. Biol. Chem. 268: 21359-21363, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8407975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8407975</a>]" pmid="8407975">Kohno et al. (1993)</a> purified CPO to apparent homogeneity from bovine liver, determined partial amino acid sequences, and used degenerate oligonucleotides based on the sequences of trypsin-digested peptides to amplify in a polymerase chain reaction a fragment of CPO DNA, using bovine kidney cell cDNA as a starting template. This fragment was used as a hybridization probe to isolate full-length CPO clones from a mouse erythroleukemia cell cDNA library. Sequence analysis demonstrated that CPO comprises 354 amino acid residues with a putative leader sequence of 31 amino acid residues, the mature protein having 323 amino acid residues. <a href="#13" class="mim-tip-reference" title="Martasek, P., Camadro, J. M., Delfau-Larue, M.-H., Dumas, J.-B., Montagne, J. J., De Verneuil, H., Labbe, P., Grandchamp, B. <strong>Molecular cloning, sequencing, and functional expression of a cDNA encoding human coproporphyrinogen oxidase.</strong> Proc. Nat. Acad. Sci. 91: 3024-3028, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8159699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8159699</a>] [<a href="https://doi.org/10.1073/pnas.91.8.3024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8159699">Martasek et al. (1994)</a> determined the sequence of the human cDNA and reported the predicted amino acid sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8159699+8407975" 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="Delfau-Larue, M.-H., Martasek, P., Grandchamp, B. <strong>Coproporphyrinogene (sic) oxidase: gene organization and description of a mutation leading to exon 6 skipping.</strong> Hum. Molec. Genet. 3: 1325-1330, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987309</a>] [<a href="https://doi.org/10.1093/hmg/3.8.1325" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987309">Delfau-Larue et al. (1994)</a> reported the exon/intron organization of the entire CPO gene, including sequences of all exon/intron boundaries and its 5-prime and 3-prime flanking regions. The gene spans about 14 kb and consists of 7 exons and 6 introns. Introns vary in size from 269 bp to 5 kb and all have consensus sequences at their boundaries. The promoter region is GC-rich and contains multiple potential Sp1 elements, CACCC boxes, and potential GATA-1 binding sites. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7987309" 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>Using fluorescence in situ hybridization, <a href="#2" class="mim-tip-reference" title="Cacheux, V., Martasek, P., Fougerousse, F., Delfau, M. H., Druart, L., Tachdjian, G., Grandchamp, B. <strong>Localization of the human coproporphyrinogen oxidase gene to chromosome band 3q12.</strong> Hum. Genet. 94: 557-559, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959694</a>] [<a href="https://doi.org/10.1007/BF00211026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7959694">Cacheux et al. (1994)</a> mapped the CPO gene to chromosome 3q12 and confirmed the localization by cosegregation of the human gene with chromosome 3 in a panel of human/rodent somatic hybrids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7959694" 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><strong><em>Coproporphyria</em></strong></p><p>
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In a patient previously reported by <a href="#4" class="mim-tip-reference" title="Grandchamp, B., Phung, N., Nordmann, Y. <strong>Homozygous case of hereditary coproporphyria. (Letter)</strong> Lancet 310: 1348-1349, 1977. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/74745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">74745</a>] [<a href="https://doi.org/10.1016/s0140-6736(77)90386-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="74745">Grandchamp et al. (1977)</a> and thought to have homozygous coproporphyria (HCP; <a href="/entry/121300">121300</a>), <a href="#14" class="mim-tip-reference" title="Martasek, P., Nordmann, Y., Grandchamp, B. <strong>Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms.</strong> Hum. Molec. Genet. 3: 477-480, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012360</a>] [<a href="https://doi.org/10.1093/hmg/3.3.477" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8012360">Martasek et al. (1994)</a> identified heterozygosity for an arg231-to-trp mutation in the CPO gene (<a href="#0001">612732.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8012360+74745" 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="Rosipal, R., Lamoril, J., Puy, H., Da Silva, V., Gouya, L., De Rooij, F. W. M., Te Velde, K., Nordmann, Y., Martasek, P., Deybach, J. C. <strong>Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update.</strong> Hum. Mutat. 13: 44-53, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9888388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9888388</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)13:1<44::AID-HUMU5>3.0.CO;2-Q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9888388">Rosipal et al. (1999)</a> studied CPO DNA from 7 unrelated heterozygous HCP patients from France, Holland, and the Czech Republic. Seven novel mutations and 2 new polymorphisms were detected. Among these mutations, 2 were missense, 2 were nonsense mutations, 2 were small deletions, and 1 was a splicing mutation. The 2 polymorphisms were located in the noncoding part of the gene. <a href="#16" class="mim-tip-reference" title="Rosipal, R., Lamoril, J., Puy, H., Da Silva, V., Gouya, L., De Rooij, F. W. M., Te Velde, K., Nordmann, Y., Martasek, P., Deybach, J. C. <strong>Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update.</strong> Hum. Mutat. 13: 44-53, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9888388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9888388</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)13:1<44::AID-HUMU5>3.0.CO;2-Q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9888388">Rosipal et al. (1999)</a> stated that a total of 19 different CPO gene defects had been reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9888388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Lamoril, J., Puy, H., Whatley, S. D., Martin, C., Woolf, J. R., Da Silva, V., Deybach, J.-C., Elder, G. H. <strong>Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.</strong> Am. J. Hum. Genet. 68: 1130-1138, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11309681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11309681</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11309681[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/10.1086/320118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11309681">Lamoril et al. (2001)</a> studied 17 unrelated British patients with HCP. They identified 10 novel and 4 previously reported CPO mutations in 15 of the 17 patients. All but 1 mutation were restricted to a single family, with a predominance of missense mutations. Both patients in whom mutations were not identified had an unequivocal diagnosis of HCP. Complete deletions of the CPO gene were excluded by showing that both patients were heterozygous for at least 1 intragenic SNP. It is probable that the causative mutations either lie outside the regions that were sequenced or were partial deletions or insertions not detected by the PCR-based methods. The findings of this study suggested that single copies of CPO mutations that are known or predicted to cause 'homozygous' HCP or harderoporphyria can produce typical HCP in adults and demonstrated that the severity of the phenotype does not correlate with the degree of inactivation by mutation of the coproporphyrinogen oxidase enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11309681" 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 5 of 9 Swedish families with HCP, <a href="#20" class="mim-tip-reference" title="Wiman, A., Floderus, Y., Harper, P. <strong>Two novel mutations and coexistence of the 991C-T and the 1339C-T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria.</strong> J. Hum. Genet. 47: 407-412, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12181641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12181641</a>] [<a href="https://doi.org/10.1007/s100380200059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12181641">Wiman et al. (2002)</a> identified mutations in the CPO gene. In each of 2 of the families, a novel mutation was identified: ser208 to phe (S208F; <a href="#0010">612732.0010</a>) and arg328 to cys (R328C; <a href="#0011">612732.0011</a>). In the affected members of the other 3 families, 2 previously reported mutations, R331W (<a href="#0001">612732.0001</a>) and R447C (<a href="#0009">612732.0009</a>), were shown to coexist on 1 allele. This was the first report of patients carrying 2 HCP-related mutations on the same allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12181641" 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>Harderoporphyria</em></strong></p><p>
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In the 3 affected sibs with harderoporphyria (HARPO; <a href="/entry/618892">618892</a>) reported by <a href="#15" class="mim-tip-reference" title="Nordmann, Y., Grandchamp, B., de Verneuil, H., Phung, L., Cartigny, B., Fontaine, G. <strong>Harderoporphyria: a variant hereditary coproporphyria.</strong> J. Clin. Invest. 72: 1139-1149, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6886003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6886003</a>] [<a href="https://doi.org/10.1172/JCI111039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6886003">Nordmann et al. (1983)</a>, <a href="#10" class="mim-tip-reference" title="Lamoril, J., Martasek, P., Deybach, J.-C., Da Silva, V., Grandchamp, B., Nordmann, Y. <strong>A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria.</strong> Hum. Molec. Genet. 4: 275-278, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7757079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7757079</a>] [<a href="https://doi.org/10.1093/hmg/4.2.275" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7757079">Lamoril et al. (1995)</a> demonstrated homozygosity for a K404E missense mutation in exon 6 of the CPO gene (see <a href="#0003">612732.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7757079+6886003" 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="#17" class="mim-tip-reference" title="Schmitt, C., Gouya, L., Malonova, E., Lamoril, J., Camadro, J.-M., Flamme, M., Rose, C., Lyoumi, S., Da Silva, V., Boileau, C., Grandchamp, B., Beaumont, C., Deybach, J.-C., Puy, H. <strong>Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.</strong> Hum. Molec. Genet. 14: 3089-3098, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16159891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16159891</a>] [<a href="https://doi.org/10.1093/hmg/ddi342" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16159891">Schmitt et al. (2005)</a> reported the fifth known patient (from a third family) with harderoporphyria and demonstrated homozygosity for the K404E mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16159891" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Turkish male infant, born of consanguineous parents, with harderoporphyria, <a href="#7" class="mim-tip-reference" title="Hasanoglu, A., Balwani, M., Kasapkara, C. S., Ezgu, F. S., Okur, I., Tumer, L., Cakmak, A., Nazarenko, I., Yu, C., Clavero, S., Bishop, D. F., Desnick, R. J. <strong>Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.</strong> J. Inherit. Metab. Dis. 34: 225-231, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21103937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21103937</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21103937[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/10.1007/s10545-010-9237-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21103937">Hasanoglu et al. (2011)</a> identified a homozygous H327R mutation in the CPOX gene (<a href="#0014">612732.0014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21103937" 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="#17" class="mim-tip-reference" title="Schmitt, C., Gouya, L., Malonova, E., Lamoril, J., Camadro, J.-M., Flamme, M., Rose, C., Lyoumi, S., Da Silva, V., Boileau, C., Grandchamp, B., Beaumont, C., Deybach, J.-C., Puy, H. <strong>Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.</strong> Hum. Molec. Genet. 14: 3089-3098, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16159891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16159891</a>] [<a href="https://doi.org/10.1093/hmg/ddi342" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16159891">Schmitt et al. (2005)</a> noted that all 5 reported patients (from 3 families) with harderoporphyria had a K404E mutation (<a href="#0003">612732.0003</a>) in homozygosity or compound heterozygosity with a null mutation. Biochemical and expression studies revealed that only a few missense mutations, restricted to 5 amino acids encoded by exon 6 (D400-K404), may accumulate significant amounts of harderoporphyrin. All types of mutations occurring elsewhere throughout the CPOX gene resulted in coproporphyrin accumulation and subsequently typical HCP. They stated that this was the first metabolic disorder in which clinical expression of overt disease depended on the location and type of mutation, resulting either in acute hepatic or in erythropoietic porphyria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16159891" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Turkish male infant, born of consanguineous parents, with harderoporphyria, <a href="#7" class="mim-tip-reference" title="Hasanoglu, A., Balwani, M., Kasapkara, C. S., Ezgu, F. S., Okur, I., Tumer, L., Cakmak, A., Nazarenko, I., Yu, C., Clavero, S., Bishop, D. F., Desnick, R. J. <strong>Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.</strong> J. Inherit. Metab. Dis. 34: 225-231, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21103937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21103937</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21103937[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/10.1007/s10545-010-9237-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21103937">Hasanoglu et al. (2011)</a> identified a homozygous H327R mutation in the CPOX gene (<a href="#0014">612732.0014</a>). The mutation occurred at a highly conserved residue involved in the enzyme's conversion of harderoporphyrinogen to protoporphyrinogen IX. The unaffected parents and an unaffected brother were all heterozygous for the mutation. Functional studies of the variant were not performed, but structural analysis suggested that it would alter the enzyme's structure and affect the second decarboxylation step. The findings expanded the genotype/phenotype correlations for this disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21103937" 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 study of somatic cell hybrids, <a href="#5" class="mim-tip-reference" title="Grandchamp, B., Weil, D., Nordmann, Y., Van Cong, N., de Verneuil, H., Foubert, C., Gross, M.-S. <strong>Assignment of the human coproporphyrinogen oxidase to chromosome 9.</strong> Hum. Genet. 64: 180-183, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6885056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6885056</a>] [<a href="https://doi.org/10.1007/BF00327121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6885056">Grandchamp et al. (1983)</a> assigned the coproporphyrinogen oxidase locus (CPO) to chromosome 9. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6885056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=612732[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> rs121917866 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917866;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/rs121917866?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=rs121917866" 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=rs121917866" 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=RCV000000480 OR RCV003989277" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000480, RCV003989277" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000480...</a>
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<p>In a patient previously reported by <a href="#4" class="mim-tip-reference" title="Grandchamp, B., Phung, N., Nordmann, Y. <strong>Homozygous case of hereditary coproporphyria. (Letter)</strong> Lancet 310: 1348-1349, 1977. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/74745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">74745</a>] [<a href="https://doi.org/10.1016/s0140-6736(77)90386-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="74745">Grandchamp et al. (1977)</a> and thought to have homozygous coproporphyria (HCP; <a href="/entry/121300">121300</a>), <a href="#13" class="mim-tip-reference" title="Martasek, P., Camadro, J. M., Delfau-Larue, M.-H., Dumas, J.-B., Montagne, J. J., De Verneuil, H., Labbe, P., Grandchamp, B. <strong>Molecular cloning, sequencing, and functional expression of a cDNA encoding human coproporphyrinogen oxidase.</strong> Proc. Nat. Acad. Sci. 91: 3024-3028, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8159699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8159699</a>] [<a href="https://doi.org/10.1073/pnas.91.8.3024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8159699">Martasek et al. (1994)</a> demonstrated a point mutation resulting in substitution of tryptophan for arginine. Both parents were heterozygous for the mutation. <a href="#13" class="mim-tip-reference" title="Martasek, P., Camadro, J. M., Delfau-Larue, M.-H., Dumas, J.-B., Montagne, J. J., De Verneuil, H., Labbe, P., Grandchamp, B. <strong>Molecular cloning, sequencing, and functional expression of a cDNA encoding human coproporphyrinogen oxidase.</strong> Proc. Nat. Acad. Sci. 91: 3024-3028, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8159699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8159699</a>] [<a href="https://doi.org/10.1073/pnas.91.8.3024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8159699">Martasek et al. (1994)</a> referred to this mutation as ARG231TRP (R231W). Based on the initiation when described by <a href="#3" class="mim-tip-reference" title="Delfau-Larue, M.-H., Martasek, P., Grandchamp, B. <strong>Coproporphyrinogene (sic) oxidase: gene organization and description of a mutation leading to exon 6 skipping.</strong> Hum. Molec. Genet. 3: 1325-1330, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987309</a>] [<a href="https://doi.org/10.1093/hmg/3.8.1325" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987309">Delfau-Larue et al. (1994)</a>, <a href="#12" class="mim-tip-reference" title="Lamoril, J., Puy, H., Whatley, S. D., Martin, C., Woolf, J. R., Da Silva, V., Deybach, J.-C., Elder, G. H. <strong>Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.</strong> Am. J. Hum. Genet. 68: 1130-1138, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11309681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11309681</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11309681[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/10.1086/320118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11309681">Lamoril et al. (2001)</a> renumbered this mutation as R331W and showed that it can cause HCP in the heterozygous state as well. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8159699+74745+11309681+7987309" 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">rs2107113853 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2107113853;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=rs2107113853" 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=rs2107113853" 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=RCV000000481" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000481" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000481</a>
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<p>In a Czech patient with a heterozygous form of hereditary coproporphyria (HCP; <a href="/entry/121300">121300</a>), <a href="#3" class="mim-tip-reference" title="Delfau-Larue, M.-H., Martasek, P., Grandchamp, B. <strong>Coproporphyrinogene (sic) oxidase: gene organization and description of a mutation leading to exon 6 skipping.</strong> Hum. Molec. Genet. 3: 1325-1330, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987309</a>] [<a href="https://doi.org/10.1093/hmg/3.8.1325" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987309">Delfau-Larue et al. (1994)</a> found a G-to-A transition in the last nucleotide of exon 6 of the CPO gene. The exon 6/intron 6 junction was found to be CCA/gta rather than the normal CCG/gta. The mutation resulted in abnormal splicing and skipping of exon 6. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7987309" 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> rs121917868 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917868;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/rs121917868?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=rs121917868" 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=rs121917868" 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=RCV000000482 OR RCV000498398 OR RCV002496220" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000482, RCV000498398, RCV002496220" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000482...</a>
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<p>In the kindred reported by <a href="#15" class="mim-tip-reference" title="Nordmann, Y., Grandchamp, B., de Verneuil, H., Phung, L., Cartigny, B., Fontaine, G. <strong>Harderoporphyria: a variant hereditary coproporphyria.</strong> J. Clin. Invest. 72: 1139-1149, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6886003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6886003</a>] [<a href="https://doi.org/10.1172/JCI111039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6886003">Nordmann et al. (1983)</a> in which 3 sibs had harderoporphyria (HARPO; <a href="/entry/618892">618892</a>), <a href="#10" class="mim-tip-reference" title="Lamoril, J., Martasek, P., Deybach, J.-C., Da Silva, V., Grandchamp, B., Nordmann, Y. <strong>A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria.</strong> Hum. Molec. Genet. 4: 275-278, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7757079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7757079</a>] [<a href="https://doi.org/10.1093/hmg/4.2.275" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7757079">Lamoril et al. (1995)</a> found by sequencing cDNA and genomic DNA that the patients carried a point mutation resulting in a LYS304GLU substitution (now known as lys404-to-glu) in exon 6 and the absence of the normal allele, suggesting a homozygous state for the mutation. Enzymatic activity studies of protein expressed from normal and mutated CPO cDNA in E. coli demonstrated that the K404E amino acid substitution was responsible for both the decrease in the enzyme activity and the accumulation of harderoporphyrin. The Michaelis constant of the mutated enzyme was 10-fold higher than normal, suggesting that the lysine at position 304 is important for binding the substrate. A slightly increased sensitivity to thermal denaturation was also observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7757079+6886003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Lamoril, J., Martasek, P., Deybach, J.-C., Da Silva, V., Grandchamp, B., Nordmann, Y. <strong>A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria.</strong> Hum. Molec. Genet. 4: 275-278, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7757079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7757079</a>] [<a href="https://doi.org/10.1093/hmg/4.2.275" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7757079">Lamoril et al. (1995)</a> numbered this mutation on the basis of the sequence described by <a href="#19" class="mim-tip-reference" title="Taketani, S., Kohno, H., Furukawa, T., Yoshinaga, T., Tokunaga, R. <strong>Molecular cloning, sequencing and expression of cDNA encoding human coproporphyrinogen oxidase.</strong> Biochim. Biophys. Acta 1183: 547-549, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8286403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8286403</a>] [<a href="https://doi.org/10.1016/0005-2728(94)90083-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8286403">Taketani et al. (1994)</a>. Subsequently the mutation was referred to as K404E (<a href="#11" class="mim-tip-reference" title="Lamoril, J., Puy, H., Gouya, L., Rosipal, R., Da Silva, V., Grandchamp, B., Foint, T., Bader-Meunier, B., Dommergues, J. P., Deybach, J. C., Nordmann, Y. <strong>Neonatal hemolytic anemia due to inherited harderoporphyria: clinical characteristics and molecular basis.</strong> Blood 91: 1453-1457, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9454777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9454777</a>]" pmid="9454777">Lamoril et al., 1998</a>) based on the initiation codon described by <a href="#3" class="mim-tip-reference" title="Delfau-Larue, M.-H., Martasek, P., Grandchamp, B. <strong>Coproporphyrinogene (sic) oxidase: gene organization and description of a mutation leading to exon 6 skipping.</strong> Hum. Molec. Genet. 3: 1325-1330, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987309</a>] [<a href="https://doi.org/10.1093/hmg/3.8.1325" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987309">Delfau-Larue et al. (1994)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7757079+9454777+7987309+8286403" 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="#17" class="mim-tip-reference" title="Schmitt, C., Gouya, L., Malonova, E., Lamoril, J., Camadro, J.-M., Flamme, M., Rose, C., Lyoumi, S., Da Silva, V., Boileau, C., Grandchamp, B., Beaumont, C., Deybach, J.-C., Puy, H. <strong>Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.</strong> Hum. Molec. Genet. 14: 3089-3098, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16159891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16159891</a>] [<a href="https://doi.org/10.1093/hmg/ddi342" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16159891">Schmitt et al. (2005)</a> reported the fifth known patient (from a third family) with harderoporphyria and demonstrated homozygosity for the K404E mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16159891" 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">rs786205053 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786205053;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=rs786205053" 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=rs786205053" 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=RCV000000483 OR RCV000483708 OR RCV003415602" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000483, RCV000483708, RCV003415602" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000483...</a>
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<p><a href="#9" class="mim-tip-reference" title="Lamoril, J., Deybach, J.-C., Puy, H., Grandchamp, B., Nordmann, Y. <strong>Three novel mutations in the coproporphyrinogen oxidase gene.</strong> Hum. Mutat. 9: 78-80, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8990017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8990017</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<78::AID-HUMU17>3.0.CO;2-M" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8990017">Lamoril et al. (1997)</a> demonstrated a novel heterozygous mutation in the CPO gene in each of 3 unrelated patients with hereditary coproporphyria (HCP; <a href="/entry/121300">121300</a>). The diagnosis was based on the observation of typical clinical manifestations, increased excretions of delta-aminolevulinic acid and porphobilinogen in urine and coproporphyrin III in both feces and urine, and 50% decreased COX activity in lymphocytes. One patient had a 5-bp insertion GCGCA after nucleotide 129 (129ins5) This insertion was responsible for a frameshift with a stop codon occurring 93 codons downstream. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8990017" 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">rs786205054 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786205054;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=rs786205054" 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=rs786205054" 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=RCV000000484" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000484" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000484</a>
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<p><a href="#9" class="mim-tip-reference" title="Lamoril, J., Deybach, J.-C., Puy, H., Grandchamp, B., Nordmann, Y. <strong>Three novel mutations in the coproporphyrinogen oxidase gene.</strong> Hum. Mutat. 9: 78-80, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8990017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8990017</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<78::AID-HUMU17>3.0.CO;2-M" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8990017">Lamoril et al. (1997)</a> demonstrated a novel heterozygous mutation in the CPO gene in each of 3 unrelated patients with hereditary coproporphyria (HCP; <a href="/entry/121300">121300</a>). The diagnosis was based on the observation of typical clinical manifestations, increased excretions of delta-aminolevulinic acid and porphobilinogen in urine and coproporphyrin III in both feces and urine, and 50% decreased COX activity in lymphocytes. One patient was found to have a 21-bp in-frame deletion after nucleotide 483 in exon 1 (484del21). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8990017" 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">rs121917870 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917870;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=rs121917870" 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=rs121917870" 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=RCV000000485" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000485" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000485</a>
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<p><a href="#9" class="mim-tip-reference" title="Lamoril, J., Deybach, J.-C., Puy, H., Grandchamp, B., Nordmann, Y. <strong>Three novel mutations in the coproporphyrinogen oxidase gene.</strong> Hum. Mutat. 9: 78-80, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8990017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8990017</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<78::AID-HUMU17>3.0.CO;2-M" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8990017">Lamoril et al. (1997)</a> demonstrated a novel mutation in the CPO gene in each of 3 unrelated patients with hereditary coproporphyria (HCP; <a href="/entry/121300">121300</a>). The diagnosis was based on the observation of typical clinical manifestations, increased excretions of delta-aminolevulinic acid and porphobilinogen in urine and coproporphyrin III in both feces and urine, and 50% decreased COX activity in lymphocytes. One patient had a C-to-G transversion at nucleotide 883 in exon 4 that resulted in a his295-to-asp (H295D) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8990017" 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> rs370245685 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs370245685;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/rs370245685?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=rs370245685" 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=rs370245685" 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=RCV000000486 OR RCV003555878" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000486, RCV003555878" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000486...</a>
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<p><a href="#11" class="mim-tip-reference" title="Lamoril, J., Puy, H., Gouya, L., Rosipal, R., Da Silva, V., Grandchamp, B., Foint, T., Bader-Meunier, B., Dommergues, J. P., Deybach, J. C., Nordmann, Y. <strong>Neonatal hemolytic anemia due to inherited harderoporphyria: clinical characteristics and molecular basis.</strong> Blood 91: 1453-1457, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9454777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9454777</a>]" pmid="9454777">Lamoril et al. (1998)</a> described a family with neonatal hemolytic anemia and harderoporphyria (HARPO; <a href="/entry/618892">618892</a>). Affected members were compound heterozygotes for the lys404-to-glu (K404E) missense mutation (<a href="#0003">612732.0003</a>) and a second allele that bore an A-to-G transition at the third position of the donor splice site in intron 6. This mutation resulted in skipping of exon 6 and the absence of functional protein. <a href="#11" class="mim-tip-reference" title="Lamoril, J., Puy, H., Gouya, L., Rosipal, R., Da Silva, V., Grandchamp, B., Foint, T., Bader-Meunier, B., Dommergues, J. P., Deybach, J. C., Nordmann, Y. <strong>Neonatal hemolytic anemia due to inherited harderoporphyria: clinical characteristics and molecular basis.</strong> Blood 91: 1453-1457, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9454777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9454777</a>]" pmid="9454777">Lamoril et al. (1998)</a> concluded that the K404E substitution, either in the homozygous or compound heterozygous state associated with the mutation leading to absence of functional mRNA or protein, is responsible for the specific clinical manifestations of harderoporphyria: jaundice, severe chronic hemolytic anemia of early onset associated with hepatosplenomegaly, and skin photosensitivity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9454777" 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">rs121917871 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917871;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=rs121917871" 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=rs121917871" 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=RCV000000487" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000487" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000487</a>
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<p>In a 38-year-old Japanese woman and her 22-year-old son with coproporphyria (HCP; <a href="/entry/121300">121300</a>), <a href="#18" class="mim-tip-reference" title="Susa, S., Daimon, M., Kondo, H., Kondo, M., Yamatani, K., Sasaki, H. <strong>Identification of a novel mutation of the CPO gene in a Japanese hereditary coproporphyria family.</strong> Am. J. Med. Genet. 80: 204-206, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843038</a>]" pmid="9843038">Susa et al. (1998)</a> demonstrated a C-to-T transition in exon 1 of the CPO gene at nucleotide position 85, which lies in the putative presequence for targeting to mitochondria. This mutation changed the codon for glutamine to a termination codon at amino acid position 29 (Q29X). MaeI restriction analysis showed 2 other carriers in the family. The C-to-T mutation was located within the putative alternative translation initiation codon (TIC-1), providing evidence that TIC-1 (<a href="#3" class="mim-tip-reference" title="Delfau-Larue, M.-H., Martasek, P., Grandchamp, B. <strong>Coproporphyrinogene (sic) oxidase: gene organization and description of a mutation leading to exon 6 skipping.</strong> Hum. Molec. Genet. 3: 1325-1330, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987309</a>] [<a href="https://doi.org/10.1093/hmg/3.8.1325" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987309">Delfau-Larue et al., 1994</a>) is the real TIC rather than TIC-2 (<a href="#19" class="mim-tip-reference" title="Taketani, S., Kohno, H., Furukawa, T., Yoshinaga, T., Tokunaga, R. <strong>Molecular cloning, sequencing and expression of cDNA encoding human coproporphyrinogen oxidase.</strong> Biochim. Biophys. Acta 1183: 547-549, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8286403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8286403</a>] [<a href="https://doi.org/10.1016/0005-2728(94)90083-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8286403">Taketani et al., 1994</a>; <a href="#13" class="mim-tip-reference" title="Martasek, P., Camadro, J. M., Delfau-Larue, M.-H., Dumas, J.-B., Montagne, J. J., De Verneuil, H., Labbe, P., Grandchamp, B. <strong>Molecular cloning, sequencing, and functional expression of a cDNA encoding human coproporphyrinogen oxidase.</strong> Proc. Nat. Acad. Sci. 91: 3024-3028, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8159699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8159699</a>] [<a href="https://doi.org/10.1073/pnas.91.8.3024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8159699">Martasek et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8286403+8159699+7987309+9843038" 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> rs28931603 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28931603;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/rs28931603?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=rs28931603" 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=rs28931603" 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=RCV000000488 OR RCV000415159 OR RCV001046689" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000488, RCV000415159, RCV001046689" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000488...</a>
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<p><a href="#12" class="mim-tip-reference" title="Lamoril, J., Puy, H., Whatley, S. D., Martin, C., Woolf, J. R., Da Silva, V., Deybach, J.-C., Elder, G. H. <strong>Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.</strong> Am. J. Hum. Genet. 68: 1130-1138, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11309681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11309681</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11309681[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/10.1086/320118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11309681">Lamoril et al. (2001)</a> identified a 1339C-T mutation in exon 7 of the CPO gene, resulting in an arg447-to-cys (R447C) substitution, in association with coproporphyria (HCP; <a href="/entry/121300">121300</a>). <a href="#20" class="mim-tip-reference" title="Wiman, A., Floderus, Y., Harper, P. <strong>Two novel mutations and coexistence of the 991C-T and the 1339C-T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria.</strong> J. Hum. Genet. 47: 407-412, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12181641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12181641</a>] [<a href="https://doi.org/10.1007/s100380200059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12181641">Wiman et al. (2002)</a> found the R447C mutation and the R331W mutation (<a href="#0001">612732.0001</a>) in exon 5 on the same allele in patients with coproporphyria. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12181641+11309681" 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">rs121917872 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917872;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=rs121917872" 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=rs121917872" 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=RCV000000489" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000489" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000489</a>
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<p><a href="#20" class="mim-tip-reference" title="Wiman, A., Floderus, Y., Harper, P. <strong>Two novel mutations and coexistence of the 991C-T and the 1339C-T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria.</strong> J. Hum. Genet. 47: 407-412, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12181641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12181641</a>] [<a href="https://doi.org/10.1007/s100380200059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12181641">Wiman et al. (2002)</a> identified a heterozygous 623C-T mutation in exon 2 of the CPO gene, resulting in a ser208-to-phe (S208F) substitution, in a patient with hereditary coproporphyria (HCP; <a href="/entry/121300">121300</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12181641" 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">rs121917873 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917873;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=rs121917873" 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=rs121917873" 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=RCV000000490" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000490" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000490</a>
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<p><a href="#20" class="mim-tip-reference" title="Wiman, A., Floderus, Y., Harper, P. <strong>Two novel mutations and coexistence of the 991C-T and the 1339C-T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria.</strong> J. Hum. Genet. 47: 407-412, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12181641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12181641</a>] [<a href="https://doi.org/10.1007/s100380200059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12181641">Wiman et al. (2002)</a> identified a heterozygous 982C-T mutation in exon 5 of the CPO gene, resulting in an arg328-to-cys (R328C) substitution, in affected members of a family with hereditary coproporphyria (HCP; <a href="/entry/121300">121300</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12181641" 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>.0012 COPROPORPHYRIA</strong>
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CPOX, 1-BP INS, NT857
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1559677768 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1559677768;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=rs1559677768" 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=rs1559677768" 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=RCV000000491" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000491" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000491</a>
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<p><a href="#6" class="mim-tip-reference" title="Gross, U., Puy, H., Meissauer, U., Lamoril, J., Deybach, J. C., Doss, M., Nordmann, Y., Doss, M. O. <strong>A molecular, enzymatic and clinical study in a family with hereditary coproporphyria.</strong> J. Inherit. Metab. Dis. 25: 279-286, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12227458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12227458</a>] [<a href="https://doi.org/10.1023/a:1016598207397" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12227458">Gross et al. (2002)</a> reported an insertion of an adenine at nucleotide 857 in exon 4 of the CPO gene in a symptomatic patient with coproporphyria (HCP; <a href="/entry/121300">121300</a>) and her father. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12227458" 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>.0013 COPROPORPHYRIA, DIGENIC</strong>
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CPOX, GLY279ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121917874 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917874;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=rs121917874" 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=rs121917874" 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=RCV000000492" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000492" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000492</a>
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<p><a href="#1" class="mim-tip-reference" title="Akagi, R., Inoue, R., Muranaka, S., Tahara, T., Taketani, S., Anderson, K. E., Phillips, J. D., Sussa, S. <strong>Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient.</strong> Brit. J. Haemat. 132: 237-243, 2006. Note: Erratum: Brit. J. Haemat. 132: 662 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16398658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16398658</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2005.05852.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16398658">Akagi et al. (2006)</a> described a Caucasian male who had symptoms of acute porphyria, with increases in urinary delta-aminolevulinic acid (ALA), porphobilinogen (PBG), and coproporphyrin that were consistent with hereditary coproporphyria (HCP; <a href="/entry/121300">121300</a>). However, a greater than expected increase in ALA compared with PBG and a substantial increase in erythrocyte zinc protoporphyrin suggested additional ALA dehydratase (ALAD) deficiency (<a href="/entry/612740">612740</a>). <a href="#1" class="mim-tip-reference" title="Akagi, R., Inoue, R., Muranaka, S., Tahara, T., Taketani, S., Anderson, K. E., Phillips, J. D., Sussa, S. <strong>Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient.</strong> Brit. J. Haemat. 132: 237-243, 2006. Note: Erratum: Brit. J. Haemat. 132: 662 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16398658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16398658</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2005.05852.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16398658">Akagi et al. (2006)</a> detected a heterozygous G-to-C transversion at nucleotide 835 of the CPO gene that caused a gly279-to-arg (G279R) amino acid change. The mutant protein expressed in E. coli was unstable and produced about 5% of activity compared with the wildtype. A missense mutation was found on 1 allele of the ALAD gene (<a href="/entry/125270#0006">125270.0006</a>). Thus, the patient represented the first case of porphyria in which both CPO and ALAD deficiencies were demonstrated at the molecular level. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16398658" 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>.0014 HARDEROPORPHYRIA</strong>
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CPOX, HIS327ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777271 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777271;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=rs587777271" 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=rs587777271" 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=RCV000114373" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000114373" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000114373</a>
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<p>In a Turkish male infant, born of consanguineous parents, with harderoporphyria (HARPO; <a href="/entry/618892">618892</a>), <a href="#7" class="mim-tip-reference" title="Hasanoglu, A., Balwani, M., Kasapkara, C. S., Ezgu, F. S., Okur, I., Tumer, L., Cakmak, A., Nazarenko, I., Yu, C., Clavero, S., Bishop, D. F., Desnick, R. J. <strong>Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.</strong> J. Inherit. Metab. Dis. 34: 225-231, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21103937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21103937</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21103937[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/10.1007/s10545-010-9237-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21103937">Hasanoglu et al. (2011)</a> identified a homozygous c.980A-G transition in exon 5 of the CPOX gene, resulting in a his327-to-arg (H327R) substitution at a highly conserved residue involved in the enzyme's conversion of harderoporphyrinogen to protoporphyrinogen IX. The patient presented with neonatal jaundice, hemolytic anemia, and severe cutaneous photosensitivity. At age 1.5 months, he had an acute porphyric attack characterized by hepatosplenomegaly, elevated liver enzymes, red urine, metabolic acidosis, and severe Coombs-negative hemolytic anemia. The child died at age 5 months. Laboratory studies showed increased urinary porphyrins, increased aminolevulinic acid, and porphobilinogen; fecal porphyrins were not measured. The unaffected parents and an unaffected brother were all heterozygous for the mutation. Functional studies of the variant were not performed, but structural analysis suggested that it would alter the enzyme's structure and affect the second decarboxylation step. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21103937" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Akagi, R., Inoue, R., Muranaka, S., Tahara, T., Taketani, S., Anderson, K. E., Phillips, J. D., Sussa, S.
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<strong>Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient.</strong>
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Brit. J. Haemat. 132: 237-243, 2006. Note: Erratum: Brit. J. Haemat. 132: 662 only, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16398658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16398658</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16398658" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.2005.05852.x" target="_blank">Full Text</a>]
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Cacheux, V., Martasek, P., Fougerousse, F., Delfau, M. H., Druart, L., Tachdjian, G., Grandchamp, B.
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<strong>Localization of the human coproporphyrinogen oxidase gene to chromosome band 3q12.</strong>
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Hum. Genet. 94: 557-559, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959694</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7959694" 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/BF00211026" target="_blank">Full Text</a>]
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Delfau-Larue, M.-H., Martasek, P., Grandchamp, B.
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<strong>Coproporphyrinogene (sic) oxidase: gene organization and description of a mutation leading to exon 6 skipping.</strong>
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Hum. Molec. Genet. 3: 1325-1330, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987309</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7987309" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/3.8.1325" target="_blank">Full Text</a>]
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Grandchamp, B., Phung, N., Nordmann, Y.
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<strong>Homozygous case of hereditary coproporphyria. (Letter)</strong>
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Lancet 310: 1348-1349, 1977. Note: Originally Volume II.
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[<a href="https://doi.org/10.1016/s0140-6736(77)90386-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00327121" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1023/a:1016598207397" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s10545-010-9237-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<78::AID-HUMU17>3.0.CO;2-M" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/4.2.275" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/320118" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.91.8.3024" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/3.3.477" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI111039" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)13:1<44::AID-HUMU5>3.0.CO;2-Q" target="_blank">Full Text</a>]
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<a id="contributors" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 3/5/2014
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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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George E. Tiller - updated : 4/16/2009
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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">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini : 4/16/2009
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</span>
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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>
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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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carol : 05/23/2020
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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 : 05/22/2020<br>carol : 05/14/2015<br>mcolton : 5/8/2015<br>alopez : 4/3/2014<br>mcolton : 3/7/2014<br>ckniffin : 3/5/2014<br>terry : 12/21/2012<br>carol : 5/18/2009<br>ckniffin : 4/23/2009<br>terry : 4/17/2009<br>carol : 4/16/2009
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</span>
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<div class="container visible-print-block">
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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> 612732
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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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COPROPORPHYRINOGEN OXIDASE; CPOX
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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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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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CPO<br />
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CPX
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</span>
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</h4>
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</div>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: CPOX</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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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 190915002, 238056003;
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</span>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 3q11.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 3:98,570,488-98,593,611 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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3q11.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Coproporphyria
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</span>
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</td>
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<td>
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<span class="mim-font">
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121300
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant; Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<tr>
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<td>
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<span class="mim-font">
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Harderoporphyria
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</span>
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</td>
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<td>
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<span class="mim-font">
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618892
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</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>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The CPOX gene encodes coproporphyrinogen oxidase (EC 1.3.3.3), the sixth enzyme of the heme biosynthetic pathway. This soluble protein localizes to the mitochondria and catalyzes the 2-step oxidative decarboxylation of the heme precursor coproporphyrinogen III to protoporphyrinogen IX via the tricarboxylic intermediate harderoporphyrinogen (summary by Hasanoglu et al., 2011). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kohno et al. (1993) purified CPO to apparent homogeneity from bovine liver, determined partial amino acid sequences, and used degenerate oligonucleotides based on the sequences of trypsin-digested peptides to amplify in a polymerase chain reaction a fragment of CPO DNA, using bovine kidney cell cDNA as a starting template. This fragment was used as a hybridization probe to isolate full-length CPO clones from a mouse erythroleukemia cell cDNA library. Sequence analysis demonstrated that CPO comprises 354 amino acid residues with a putative leader sequence of 31 amino acid residues, the mature protein having 323 amino acid residues. Martasek et al. (1994) determined the sequence of the human cDNA and reported the predicted amino acid sequence. </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>Delfau-Larue et al. (1994) reported the exon/intron organization of the entire CPO gene, including sequences of all exon/intron boundaries and its 5-prime and 3-prime flanking regions. The gene spans about 14 kb and consists of 7 exons and 6 introns. Introns vary in size from 269 bp to 5 kb and all have consensus sequences at their boundaries. The promoter region is GC-rich and contains multiple potential Sp1 elements, CACCC boxes, and potential GATA-1 binding sites. </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>Using fluorescence in situ hybridization, Cacheux et al. (1994) mapped the CPO gene to chromosome 3q12 and confirmed the localization by cosegregation of the human gene with chromosome 3 in a panel of human/rodent somatic hybrids. </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><strong><em>Coproporphyria</em></strong></p><p>
|
|
In a patient previously reported by Grandchamp et al. (1977) and thought to have homozygous coproporphyria (HCP; 121300), Martasek et al. (1994) identified heterozygosity for an arg231-to-trp mutation in the CPO gene (612732.0001). </p><p>Rosipal et al. (1999) studied CPO DNA from 7 unrelated heterozygous HCP patients from France, Holland, and the Czech Republic. Seven novel mutations and 2 new polymorphisms were detected. Among these mutations, 2 were missense, 2 were nonsense mutations, 2 were small deletions, and 1 was a splicing mutation. The 2 polymorphisms were located in the noncoding part of the gene. Rosipal et al. (1999) stated that a total of 19 different CPO gene defects had been reported. </p><p>Lamoril et al. (2001) studied 17 unrelated British patients with HCP. They identified 10 novel and 4 previously reported CPO mutations in 15 of the 17 patients. All but 1 mutation were restricted to a single family, with a predominance of missense mutations. Both patients in whom mutations were not identified had an unequivocal diagnosis of HCP. Complete deletions of the CPO gene were excluded by showing that both patients were heterozygous for at least 1 intragenic SNP. It is probable that the causative mutations either lie outside the regions that were sequenced or were partial deletions or insertions not detected by the PCR-based methods. The findings of this study suggested that single copies of CPO mutations that are known or predicted to cause 'homozygous' HCP or harderoporphyria can produce typical HCP in adults and demonstrated that the severity of the phenotype does not correlate with the degree of inactivation by mutation of the coproporphyrinogen oxidase enzyme. </p><p>In 5 of 9 Swedish families with HCP, Wiman et al. (2002) identified mutations in the CPO gene. In each of 2 of the families, a novel mutation was identified: ser208 to phe (S208F; 612732.0010) and arg328 to cys (R328C; 612732.0011). In the affected members of the other 3 families, 2 previously reported mutations, R331W (612732.0001) and R447C (612732.0009), were shown to coexist on 1 allele. This was the first report of patients carrying 2 HCP-related mutations on the same allele. </p><p><strong><em>Harderoporphyria</em></strong></p><p>
|
|
In the 3 affected sibs with harderoporphyria (HARPO; 618892) reported by Nordmann et al. (1983), Lamoril et al. (1995) demonstrated homozygosity for a K404E missense mutation in exon 6 of the CPO gene (see 612732.0003). </p><p>Schmitt et al. (2005) reported the fifth known patient (from a third family) with harderoporphyria and demonstrated homozygosity for the K404E mutation. </p><p>In a Turkish male infant, born of consanguineous parents, with harderoporphyria, Hasanoglu et al. (2011) identified a homozygous H327R mutation in the CPOX gene (612732.0014). </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>
|
|
<h4>
|
|
<span class="mim-font">
|
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<strong>Genotype/Phenotype Correlations</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">
|
|
<p>Schmitt et al. (2005) noted that all 5 reported patients (from 3 families) with harderoporphyria had a K404E mutation (612732.0003) in homozygosity or compound heterozygosity with a null mutation. Biochemical and expression studies revealed that only a few missense mutations, restricted to 5 amino acids encoded by exon 6 (D400-K404), may accumulate significant amounts of harderoporphyrin. All types of mutations occurring elsewhere throughout the CPOX gene resulted in coproporphyrin accumulation and subsequently typical HCP. They stated that this was the first metabolic disorder in which clinical expression of overt disease depended on the location and type of mutation, resulting either in acute hepatic or in erythropoietic porphyria. </p><p>In a Turkish male infant, born of consanguineous parents, with harderoporphyria, Hasanoglu et al. (2011) identified a homozygous H327R mutation in the CPOX gene (612732.0014). The mutation occurred at a highly conserved residue involved in the enzyme's conversion of harderoporphyrinogen to protoporphyrinogen IX. The unaffected parents and an unaffected brother were all heterozygous for the mutation. Functional studies of the variant were not performed, but structural analysis suggested that it would alter the enzyme's structure and affect the second decarboxylation step. The findings expanded the genotype/phenotype correlations for this disease. </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>
|
|
<span class="mim-font">
|
|
<strong>History</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
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<span class="mim-text-font">
|
|
<p>By study of somatic cell hybrids, Grandchamp et al. (1983) assigned the coproporphyrinogen oxidase locus (CPO) to chromosome 9. </p>
|
|
</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
|
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</span>
|
|
<strong>14 Selected Examples):</strong>
|
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</span>
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</h4>
|
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0001 COPROPORPHYRIA</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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CPOX, ARG331TRP
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<br />
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SNP: rs121917866,
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gnomAD: rs121917866,
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ClinVar: RCV000000480, RCV003989277
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient previously reported by Grandchamp et al. (1977) and thought to have homozygous coproporphyria (HCP; 121300), Martasek et al. (1994) demonstrated a point mutation resulting in substitution of tryptophan for arginine. Both parents were heterozygous for the mutation. Martasek et al. (1994) referred to this mutation as ARG231TRP (R231W). Based on the initiation when described by Delfau-Larue et al. (1994), Lamoril et al. (2001) renumbered this mutation as R331W and showed that it can cause HCP in the heterozygous state as well. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 COPROPORPHYRIA</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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CPOX, IVS6, G-A, -1
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<br />
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SNP: rs2107113853,
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ClinVar: RCV000000481
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Czech patient with a heterozygous form of hereditary coproporphyria (HCP; 121300), Delfau-Larue et al. (1994) found a G-to-A transition in the last nucleotide of exon 6 of the CPO gene. The exon 6/intron 6 junction was found to be CCA/gta rather than the normal CCG/gta. The mutation resulted in abnormal splicing and skipping of exon 6. </p>
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</span>
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</div>
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<div>
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<br />
|
|
</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 HARDEROPORPHYRIA</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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CPOX, LYS404GLU
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<br />
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SNP: rs121917868,
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|
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gnomAD: rs121917868,
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|
|
ClinVar: RCV000000482, RCV000498398, RCV002496220
|
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|
|
|
</span>
|
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In the kindred reported by Nordmann et al. (1983) in which 3 sibs had harderoporphyria (HARPO; 618892), Lamoril et al. (1995) found by sequencing cDNA and genomic DNA that the patients carried a point mutation resulting in a LYS304GLU substitution (now known as lys404-to-glu) in exon 6 and the absence of the normal allele, suggesting a homozygous state for the mutation. Enzymatic activity studies of protein expressed from normal and mutated CPO cDNA in E. coli demonstrated that the K404E amino acid substitution was responsible for both the decrease in the enzyme activity and the accumulation of harderoporphyrin. The Michaelis constant of the mutated enzyme was 10-fold higher than normal, suggesting that the lysine at position 304 is important for binding the substrate. A slightly increased sensitivity to thermal denaturation was also observed. </p><p>Lamoril et al. (1995) numbered this mutation on the basis of the sequence described by Taketani et al. (1994). Subsequently the mutation was referred to as K404E (Lamoril et al., 1998) based on the initiation codon described by Delfau-Larue et al. (1994). </p><p>Schmitt et al. (2005) reported the fifth known patient (from a third family) with harderoporphyria and demonstrated homozygosity for the K404E mutation. </p>
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|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0004 COPROPORPHYRIA</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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CPOX, 5-BP INS, NT129
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<br />
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|
SNP: rs786205053,
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ClinVar: RCV000000483, RCV000483708, RCV003415602
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|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Lamoril et al. (1997) demonstrated a novel heterozygous mutation in the CPO gene in each of 3 unrelated patients with hereditary coproporphyria (HCP; 121300). The diagnosis was based on the observation of typical clinical manifestations, increased excretions of delta-aminolevulinic acid and porphobilinogen in urine and coproporphyrin III in both feces and urine, and 50% decreased COX activity in lymphocytes. One patient had a 5-bp insertion GCGCA after nucleotide 129 (129ins5) This insertion was responsible for a frameshift with a stop codon occurring 93 codons downstream. </p>
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|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 COPROPORPHYRIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CPOX, 21-BP DEL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs786205054,
|
|
|
|
|
|
|
|
ClinVar: RCV000000484
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Lamoril et al. (1997) demonstrated a novel heterozygous mutation in the CPO gene in each of 3 unrelated patients with hereditary coproporphyria (HCP; 121300). The diagnosis was based on the observation of typical clinical manifestations, increased excretions of delta-aminolevulinic acid and porphobilinogen in urine and coproporphyrin III in both feces and urine, and 50% decreased COX activity in lymphocytes. One patient was found to have a 21-bp in-frame deletion after nucleotide 483 in exon 1 (484del21). </p>
|
|
</span>
|
|
</div>
|
|
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|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 COPROPORPHYRIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CPOX, HIS295ASP
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|
|
|
|
|
<br />
|
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|
|
SNP: rs121917870,
|
|
|
|
|
|
|
|
ClinVar: RCV000000485
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Lamoril et al. (1997) demonstrated a novel mutation in the CPO gene in each of 3 unrelated patients with hereditary coproporphyria (HCP; 121300). The diagnosis was based on the observation of typical clinical manifestations, increased excretions of delta-aminolevulinic acid and porphobilinogen in urine and coproporphyrin III in both feces and urine, and 50% decreased COX activity in lymphocytes. One patient had a C-to-G transversion at nucleotide 883 in exon 4 that resulted in a his295-to-asp (H295D) substitution. </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 HARDEROPORPHYRIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CPOX, IVS6DS, A-G, +3
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs370245685,
|
|
|
|
|
|
gnomAD: rs370245685,
|
|
|
|
|
|
ClinVar: RCV000000486, RCV003555878
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Lamoril et al. (1998) described a family with neonatal hemolytic anemia and harderoporphyria (HARPO; 618892). Affected members were compound heterozygotes for the lys404-to-glu (K404E) missense mutation (612732.0003) and a second allele that bore an A-to-G transition at the third position of the donor splice site in intron 6. This mutation resulted in skipping of exon 6 and the absence of functional protein. Lamoril et al. (1998) concluded that the K404E substitution, either in the homozygous or compound heterozygous state associated with the mutation leading to absence of functional mRNA or protein, is responsible for the specific clinical manifestations of harderoporphyria: jaundice, severe chronic hemolytic anemia of early onset associated with hepatosplenomegaly, and skin photosensitivity. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
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|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 COPROPORPHYRIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CPOX, GLN29TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121917871,
|
|
|
|
|
|
|
|
ClinVar: RCV000000487
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 38-year-old Japanese woman and her 22-year-old son with coproporphyria (HCP; 121300), Susa et al. (1998) demonstrated a C-to-T transition in exon 1 of the CPO gene at nucleotide position 85, which lies in the putative presequence for targeting to mitochondria. This mutation changed the codon for glutamine to a termination codon at amino acid position 29 (Q29X). MaeI restriction analysis showed 2 other carriers in the family. The C-to-T mutation was located within the putative alternative translation initiation codon (TIC-1), providing evidence that TIC-1 (Delfau-Larue et al., 1994) is the real TIC rather than TIC-2 (Taketani et al., 1994; Martasek et al., 1994). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 COPROPORPHYRIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CPOX, ARG447CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28931603,
|
|
|
|
|
|
gnomAD: rs28931603,
|
|
|
|
|
|
ClinVar: RCV000000488, RCV000415159, RCV001046689
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Lamoril et al. (2001) identified a 1339C-T mutation in exon 7 of the CPO gene, resulting in an arg447-to-cys (R447C) substitution, in association with coproporphyria (HCP; 121300). Wiman et al. (2002) found the R447C mutation and the R331W mutation (612732.0001) in exon 5 on the same allele in patients with coproporphyria. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 COPROPORPHYRIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CPOX, SER208PHE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121917872,
|
|
|
|
|
|
|
|
ClinVar: RCV000000489
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Wiman et al. (2002) identified a heterozygous 623C-T mutation in exon 2 of the CPO gene, resulting in a ser208-to-phe (S208F) substitution, in a patient with hereditary coproporphyria (HCP; 121300). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 COPROPORPHYRIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CPOX, ARG328CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121917873,
|
|
|
|
|
|
|
|
ClinVar: RCV000000490
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Wiman et al. (2002) identified a heterozygous 982C-T mutation in exon 5 of the CPO gene, resulting in an arg328-to-cys (R328C) substitution, in affected members of a family with hereditary coproporphyria (HCP; 121300). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 COPROPORPHYRIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CPOX, 1-BP INS, NT857
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1559677768,
|
|
|
|
|
|
|
|
ClinVar: RCV000000491
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Gross et al. (2002) reported an insertion of an adenine at nucleotide 857 in exon 4 of the CPO gene in a symptomatic patient with coproporphyria (HCP; 121300) and her father. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 COPROPORPHYRIA, DIGENIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CPOX, GLY279ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121917874,
|
|
|
|
|
|
|
|
ClinVar: RCV000000492
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Akagi et al. (2006) described a Caucasian male who had symptoms of acute porphyria, with increases in urinary delta-aminolevulinic acid (ALA), porphobilinogen (PBG), and coproporphyrin that were consistent with hereditary coproporphyria (HCP; 121300). However, a greater than expected increase in ALA compared with PBG and a substantial increase in erythrocyte zinc protoporphyrin suggested additional ALA dehydratase (ALAD) deficiency (612740). Akagi et al. (2006) detected a heterozygous G-to-C transversion at nucleotide 835 of the CPO gene that caused a gly279-to-arg (G279R) amino acid change. The mutant protein expressed in E. coli was unstable and produced about 5% of activity compared with the wildtype. A missense mutation was found on 1 allele of the ALAD gene (125270.0006). Thus, the patient represented the first case of porphyria in which both CPO and ALAD deficiencies were demonstrated at the molecular level. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 HARDEROPORPHYRIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CPOX, HIS327ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777271,
|
|
|
|
|
|
|
|
ClinVar: RCV000114373
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Turkish male infant, born of consanguineous parents, with harderoporphyria (HARPO; 618892), Hasanoglu et al. (2011) identified a homozygous c.980A-G transition in exon 5 of the CPOX gene, resulting in a his327-to-arg (H327R) substitution at a highly conserved residue involved in the enzyme's conversion of harderoporphyrinogen to protoporphyrinogen IX. The patient presented with neonatal jaundice, hemolytic anemia, and severe cutaneous photosensitivity. At age 1.5 months, he had an acute porphyric attack characterized by hepatosplenomegaly, elevated liver enzymes, red urine, metabolic acidosis, and severe Coombs-negative hemolytic anemia. The child died at age 5 months. Laboratory studies showed increased urinary porphyrins, increased aminolevulinic acid, and porphobilinogen; fecal porphyrins were not measured. The unaffected parents and an unaffected brother were all heterozygous for the mutation. Functional studies of the variant were not performed, but structural analysis suggested that it would alter the enzyme's structure and affect the second decarboxylation step. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
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|
</div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Akagi, R., Inoue, R., Muranaka, S., Tahara, T., Taketani, S., Anderson, K. E., Phillips, J. D., Sussa, S.
|
|
<strong>Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient.</strong>
|
|
Brit. J. Haemat. 132: 237-243, 2006. Note: Erratum: Brit. J. Haemat. 132: 662 only, 2006.
|
|
|
|
|
|
[PubMed: 16398658]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1365-2141.2005.05852.x]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cacheux, V., Martasek, P., Fougerousse, F., Delfau, M. H., Druart, L., Tachdjian, G., Grandchamp, B.
|
|
<strong>Localization of the human coproporphyrinogen oxidase gene to chromosome band 3q12.</strong>
|
|
Hum. Genet. 94: 557-559, 1994.
|
|
|
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Schmitt, C., Gouya, L., Malonova, E., Lamoril, J., Camadro, J.-M., Flamme, M., Rose, C., Lyoumi, S., Da Silva, V., Boileau, C., Grandchamp, B., Beaumont, C., Deybach, J.-C., Puy, H.
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Taketani, S., Kohno, H., Furukawa, T., Yoshinaga, T., Tokunaga, R.
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<strong>Molecular cloning, sequencing and expression of cDNA encoding human coproporphyrinogen oxidase.</strong>
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Wiman, A., Floderus, Y., Harper, P.
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<strong>Two novel mutations and coexistence of the 991C-T and the 1339C-T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria.</strong>
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