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Entry
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- *613521 - UROPORPHYRINOGEN DECARBOXYLASE; UROD
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- OMIM
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<p>
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<span class="h4">*613521</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#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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<li role="presentation" style="margin-left: 1em">
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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="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/613521">Table View</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000126088;t=ENST00000246337" 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=7389" 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=613521" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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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=ENSG00000126088;t=ENST00000246337" 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_000374,NR_036510,NR_158184,NR_158185,XM_047429958" 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_000374" 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=613521" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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<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://www.proteinatlas.org/search/UROD" 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/340181,340183,1322019,1418944,2507533,2905794,4140695,4140696,4151813,4151815,4151817,4151819,4151821,4151823,4151825,4151827,4151829,4151831,4151833,4151835,4151837,4151839,4151841,4151843,4151845,4151847,4151849,4151851,12804699,30582313,31323304,48146069,49457067,71051616,119627412,119627413,158257186,164691173,194374481,194379832,2217270688,2462513344,2462513346" 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/P06132" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=7389" 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=ENSG00000126088;t=ENST00000246337" 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=UROD" 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=UROD" 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+7389" 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/UROD" 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:7389" 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/7389" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr1&hgg_gene=ENST00000246337.9&hgg_start=45012254&hgg_end=45015575&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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<div 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/gene-dosage/HGNC:12591" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:12591" 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/urod" 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=613521[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=613521[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/ENSG00000126088" 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.gwascentral.org/search?q=UROD" 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=UROD" 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=UROD&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/PA37221" 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:12591" 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/FBgn0033428.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:98916" 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/UROD#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:98916" 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/7389/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=7389" 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-000208-18" 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:7389" 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=UROD&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> 111386004, 61860000<br />
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<strong>ICD10CM:</strong> E80.1<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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613521
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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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UROPORPHYRINOGEN DECARBOXYLASE; UROD
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<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=UROD" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">UROD</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/1/551?start=-3&limit=10&highlight=551">1p34.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:45012254-45015575&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">1:45,012,254-45,015,575</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="2">
|
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<span class="mim-font">
|
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<a href="/geneMap/1/551?start=-3&limit=10&highlight=551">
|
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1p34.1
|
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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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Porphyria cutanea tarda
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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/176100"> 176100 </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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Porphyria, hepatoerythropoietic
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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/176100"> 176100 </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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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/613521" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/613521" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<p>Uroporphyrinogen decarboxylase (UROD; <a href="https://enzyme.expasy.org/EC/4.1.1.37" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 4.1.1.37</a>) is a cytosolic enzyme involved in the biosynthesis of heme. It catalyzes the sequential removal of 4 of the carboxymethyl side chains of uroporphyrinogen to yield coproporphyrinogen. <a href="#20" class="mim-tip-reference" title="Sassa, S., de Verneuil, H., Anderson, K. E., Kappas, A. <strong>Purification and properties of human erythrocyte uroporphyrinogen decarboxylase: immunological demonstration of the enzyme defect in porphyria cutanea tarda.</strong> Trans. Assoc. Am. Phys. 96: 65-75, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6437037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6437037</a>]" pmid="6437037">Sassa et al. (1983)</a> purified UROD to homogeneity. A single enzyme is involved in the 4 successive decarboxylations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6437037" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#19" class="mim-tip-reference" title="Romeo, P.-H., Raich, N., Dubart, A., Beaupain, D., Pryor, M., Kushner, J., Cohen-Solal, M., Goossens, M. <strong>Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNA.</strong> J. Biol. Chem. 261: 9825-9831, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3015909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3015909</a>]" pmid="3015909">Romeo et al. (1986)</a> cloned and sequenced a full-length cDNA coding for human UROD. The deduced 367-amino acid protein has a molecular mass of 40.8 kD. Northern blot analysis demonstrated the presence of a single size species of mRNA in erythroid and nonerythroid tissues and in several cultured cell lines. The level of UROD mRNA was markedly increased in tissues and cell lines of erythroid origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3015909" 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="Romana, M., Dubart, A., Beaupain, D., Chabret, C., Goossens, M., Romeo, P.-H. <strong>Structure of the gene for human uroporphyrinogen decarboxylase.</strong> Nucleic Acids Res. 15: 7343-7356, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3658695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3658695</a>] [<a href="https://doi.org/10.1093/nar/15.18.7343" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3658695">Romana et al. (1987)</a> demonstrated that the UROD gene has 10 exons spread over 3 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3658695" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="de Verneuil, H., Grandchamp, B., Foubert, C., Weil, D., Van Cong, N., Gross, M.-S., Sassa, S., Nordmann, Y. <strong>Assignment of the gene for uroporphyrinogen decarboxylase to human chromosome 1 by somatic cell hybridization and specific enzyme immunoassay.</strong> Hum. Genet. 66: 202-205, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6370830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6370830</a>] [<a href="https://doi.org/10.1007/BF00286601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6370830">De Verneuil et al. (1984)</a> assigned the locus for uroporphyrinogen decarboxylase to chromosome 1 by somatic cell hybridization and specific enzyme assay. This was the fourth enzyme of the heme biosynthetic pathway to be mapped; the other 3 are CPOX (<a href="/entry/612732">612732</a>) on 9, PBGD (<a href="/entry/609806">609806</a>) on 11, and ALAD (<a href="/entry/125270">125270</a>) on 9. <a href="#12" class="mim-tip-reference" title="Mattei, M. G., Dubart, A., Beaupain, D., Goossens, M., Mattei, J. F. <strong>Localization of the uroporphyrinogen decarboxylase gene to 1p34 band, by in situ hybridization. (Abstract)</strong> Cytogenet. Cell Genet. 40: 692, 1985."None>Mattei et al. (1985)</a> used a cDNA clone to localize UROD to 1p34 by in situ hybridization. <a href="#13" class="mim-tip-reference" title="McLellan, T., Pryor, M. A., Kushner, J. P., Eddy, R. L., Shows, T. B. <strong>Assignment of uroporphyrinogen decarboxylase (UROD) to the pter-p21 region of human chromosome 1.</strong> Cytogenet. Cell Genet. 39: 224-227, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4042691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4042691</a>] [<a href="https://doi.org/10.1159/000132139" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4042691">McLellan et al. (1985)</a> arrived at a different location, 1pter-1p21, by somatic cell hybridization using cell lines with rearranged chromosomes. Using a cDNA probe in both somatic cell and in situ hybridization, <a href="#8" class="mim-tip-reference" title="Dubart, A., Mattei, M. G., Raich, N., Beaupain, D., Romeo, P. H., Mattei, J. F., Goossens, M. <strong>Assignment of human uroporphyrinogen decarboxylase (URO-D) to the p34 band of chromosome 1.</strong> Hum. Genet. 73: 277-279, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3460962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3460962</a>] [<a href="https://doi.org/10.1007/BF00401245" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3460962">Dubart et al. (1986)</a> confirmed the assignment to 1p34. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6370830+4042691+3460962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bahary, N., Zorich, G., Pachter, J. E., Leibel, R. L., Friedman, J. M. <strong>Molecular genetic linkage maps of mouse chromosomes 4 and 6.</strong> Genomics 11: 33-47, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1684952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1684952</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90099-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1684952">Bahary et al. (1991)</a> assigned the homologous Urod gene to chromosome 4 of the mouse. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1684952" 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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In the UROD cDNA from a patient with familial porphyria cutanea tarda (PCT; <a href="/entry/176100">176100</a>), <a href="#9" class="mim-tip-reference" title="Garey, J. R., Hansen, J. L., Harrison, L. M., Kennedy, J. B., Kushner, J. P. <strong>A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda.</strong> Blood 73: 892-895, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2920211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2920211</a>]" pmid="2920211">Garey et al. (1989)</a> demonstrated a heterozygous gly281-to-val substitution (G281V; <a href="#0001">613521.0001</a>). The mutation was not detected in affected persons from 7 other PCT pedigrees with an autosomal dominant pattern of inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2920211" 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>Hepatoerythropoietic Porphyria</em></strong></p><p>
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In a Tunisian family with hepatoerythropoietic porphyria (HEP; see <a href="/entry/176100">176100</a>), <a href="#7" class="mim-tip-reference" title="de Verneuil, H., Hansen, J., Picat, C., Grandchamp, B., Kushner, J., Roberts, A., Elder, G., Nordmann, Y. <strong>Prevalence of the 281 (gly-to-glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda.</strong> Hum. Genet. 78: 101-102, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2892774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2892774</a>] [<a href="https://doi.org/10.1007/BF00291248" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2892774">de Verneuil et al. (1988)</a> identified homozygosity for a G281E mutation (<a href="#0002">613521.0002</a>) in the UROD gene product. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2892774" 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=613521[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> rs121918057 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918057;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/rs121918057?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=rs121918057" 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=rs121918057" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient with familial porphyria cutanea tarda (PCT; <a href="/entry/176100">176100</a>), <a href="#9" class="mim-tip-reference" title="Garey, J. R., Hansen, J. L., Harrison, L. M., Kennedy, J. B., Kushner, J. P. <strong>A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda.</strong> Blood 73: 892-895, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2920211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2920211</a>]" pmid="2920211">Garey et al. (1989)</a> identified heterozygosity for a gly281-to-val (G281V) mutation in UROD cDNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2920211" 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> rs121918057 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918057;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/rs121918057?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=rs121918057" 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=rs121918057" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p><a href="#4" class="mim-tip-reference" title="de Verneuil, H., Grandchamp, B., Beaumont, C., Picat, C., Nordmann, Y. <strong>Uroporphyrinogen decarboxylase structural mutant (gly281-to-glu) in a case of porphyria.</strong> Science 234: 732-734, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3775362/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3775362</a>] [<a href="https://doi.org/10.1126/science.3775362" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3775362">De Verneuil et al. (1986)</a> cloned and sequenced cDNA for the mutated gene in 1 of their 2 homozygous patients with hepatoerythropoietic porphyria (HEP; see <a href="/entry/176100">176100</a>) and found that the glycine residue at position 281 was replaced by glutamic acid (G281E). This single amino acid change led to a protein that was rapidly degraded in the presence of cell lysate. Using a synthetic oligonucleotide probe to screen for the presence of the G281E mutation, <a href="#7" class="mim-tip-reference" title="de Verneuil, H., Hansen, J., Picat, C., Grandchamp, B., Kushner, J., Roberts, A., Elder, G., Nordmann, Y. <strong>Prevalence of the 281 (gly-to-glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda.</strong> Hum. Genet. 78: 101-102, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2892774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2892774</a>] [<a href="https://doi.org/10.1007/BF00291248" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2892774">de Verneuil et al. (1988)</a> demonstrated the mutation in HEP-affected members of 2 unrelated families from Spain, but found that it was absent in 2 other HEP patients from Italy and Portugal. Moreover, the mutation was not detected in 13 unrelated cases of familial porphyria cutanea tarda. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3775362+2892774" 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="#9" class="mim-tip-reference" title="Garey, J. R., Hansen, J. L., Harrison, L. M., Kennedy, J. B., Kushner, J. P. <strong>A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda.</strong> Blood 73: 892-895, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2920211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2920211</a>]" pmid="2920211">Garey et al. (1989)</a> demonstrated this substitution in homozygous state in a patient with HEP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2920211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a study of 5 Spanish families with hepatoerythropoietic porphyria and 9 unrelated Spanish patients with familial porphyria cutanea tarda, <a href="#16" class="mim-tip-reference" title="Roberts, A. G., Elder, G. H., De Salamanca, R. E., Herrero, C., Lecha, M., Mascaro, J. M. <strong>A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients.</strong> J. Invest. Derm. 104: 500-502, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7706766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7706766</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12605953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7706766">Roberts et al. (1995)</a> found homozygosity for the G281E mutation in 4 patients with HEP and compound heterozygosity for this mutation in the fifth. The calculated carrier frequency for G281E in Spain was 1 in 1,800. None of the 9 familial porphyria cutanea tarda patients carried the G281E mutation. However, one G281E heterozygote in a family with hepatoerythropoietic porphyria had overt porphyria cutanea tarda (PCT; <a href="/entry/176100">176100</a>). These findings suggested that the G281E mutation is functionally less severe than erythrocyte measurements indicate, that its clinical penetrance is very low in heterozygotes, and that, for this particular mutation, hepatoerythropoietic porphyria is the homozygous form of familial porphyria cutanea tarda. The results also indicated that HEP in Spain is genetically homogeneous, since 9 of the 10 UROD-deficient chromosomes carried the G281E mutation. In contrast, studies in most of the 14 families reported from outside Spain were likely to have different mutations. The parents of only 1 of the Spanish cases were consanguineous, and the other families came from widely different regions of Spain and did not appear to be related. The mutation probably entered Spain in the distant past and had become widely distributed. The G281E mutation was originally described in a Tunisian family (<a href="#7" class="mim-tip-reference" title="de Verneuil, H., Hansen, J., Picat, C., Grandchamp, B., Kushner, J., Roberts, A., Elder, G., Nordmann, Y. <strong>Prevalence of the 281 (gly-to-glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda.</strong> Hum. Genet. 78: 101-102, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2892774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2892774</a>] [<a href="https://doi.org/10.1007/BF00291248" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2892774">de Verneuil et al., 1988</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7706766+2892774" 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 Spanish family, <a href="#15" class="mim-tip-reference" title="Moran-Jimenez, M. J., Ged, C., Romana, M., Enriquez de Salamanca, R., Taieb, A., Topi, G., D'Alessandro, L., de Verneuil, H. <strong>Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.</strong> Am. J. Hum. Genet. 58: 712-721, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644733</a>]" pmid="8644733">Moran-Jimenez et al. (1996)</a> found homozygosity for the G281E mutation as the cause of HEP. A paternal uncle of the proband developed clinically overt porphyria cutanea tarda as an adult and proved to be heterozygous for the G281E mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8644733" 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=RCV000000085 OR RCV001387743" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000085, RCV001387743" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000085...</a>
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<p>In affected members of 5 of 22 unrelated families segregating porphyria cutanea tarda (PCT; <a href="/entry/176100">176100</a>), <a href="#11" class="mim-tip-reference" title="Garey, J. R., Harrison, L. M., Franklin, K. F., Metcalf, K. M., Radisky, E. S., Kushner, J. P. <strong>Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda.</strong> J. Clin. Invest. 86: 1416-1422, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2243121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2243121</a>] [<a href="https://doi.org/10.1172/JCI114856" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2243121">Garey et al. (1990)</a> found a heterozygous splice site mutation in the UROD gene (IVS6+1G-C). The mutation resulted in the deletion of exon 6. The intron/exon junctions on either side of exon 6 fall between codons; thus, the resulting protein is shorter than the normal protein, missing only the amino acids coded by exon 6. The shortened protein lacked catalytic activity, was rapidly degraded when exposed to human lymphocyte lysates, and was not detectable by Western blot analysis in lymphocyte lysates derived from affected persons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2243121" 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">rs121918058 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918058;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=rs121918058" 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=rs121918058" 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=RCV000000086 OR RCV001804706" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000086, RCV001804706" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000086...</a>
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<p><a href="#18" class="mim-tip-reference" title="Romana, M., Grandchamp, B., Dubart, A., Amselem, S., Chabret, C., Nordmann, Y., Goossens, M., Romeo, P.-H. <strong>Identification of a new mutation responsible for hepatoerythropoietic porphyria.</strong> Europ. J. Clin. Invest. 21: 225-229, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1905636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1905636</a>] [<a href="https://doi.org/10.1111/j.1365-2362.1991.tb01814.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1905636">Romana et al. (1991)</a> demonstrated that a patient with hepatoerythropoietic porphyria (HEP; see <a href="/entry/176100">176100</a>) was homozygous for a GAG-to-AAG mutation in the UROD gene that changed glutamic acid-167 to lysine (E167K). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1905636" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 Dutch sisters with hepatoerythropoietic porphyria (HEP; see <a href="/entry/176100">176100</a>), <a href="#3" class="mim-tip-reference" title="de Verneuil, H., Bourgeois, F., de Rooij, F., Siersema, P. D., Wilson, J. H. P., Grandchamp, B., Nordmann, Y. <strong>Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria.</strong> Hum. Genet. 89: 548-552, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1634232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1634232</a>] [<a href="https://doi.org/10.1007/BF00219182" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1634232">de Verneuil et al. (1992)</a> demonstrated compound heterozygosity for a deletion inherited from the father and an R292G mutation inherited from the mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1634232" 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">rs121918060 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918060;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=rs121918060" 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=rs121918060" 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=RCV000000088 OR RCV001851501" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000088, RCV001851501" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000088...</a>
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<p>In affected members of a Portuguese family segregating hepatoerythropoietic porphyria (HEP; see <a href="/entry/176100">176100</a>), <a href="#15" class="mim-tip-reference" title="Moran-Jimenez, M. J., Ged, C., Romana, M., Enriquez de Salamanca, R., Taieb, A., Topi, G., D'Alessandro, L., de Verneuil, H. <strong>Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.</strong> Am. J. Hum. Genet. 58: 712-721, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644733</a>]" pmid="8644733">Moran-Jimenez et al. (1996)</a> demonstrated homozygosity for a pro61-to-leu (P62L) substitution in UROD. Mutant cDNA corresponding to the P62L change was created by site-directed mutagenesis. The recombinant protein proved to have subnormal enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8644733" 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>.0007 PORPHYRIA, HEPATOERYTHROPOIETIC</strong>
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UROD, TYR311CYS
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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> rs121918061 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918061;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/rs121918061?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=rs121918061" 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=rs121918061" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000089 OR RCV000626082 OR RCV001851502" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000089, RCV000626082, RCV001851502" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000089...</a>
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<p>In an Italian family, <a href="#15" class="mim-tip-reference" title="Moran-Jimenez, M. J., Ged, C., Romana, M., Enriquez de Salamanca, R., Taieb, A., Topi, G., D'Alessandro, L., de Verneuil, H. <strong>Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.</strong> Am. J. Hum. Genet. 58: 712-721, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644733</a>]" pmid="8644733">Moran-Jimenez et al. (1996)</a> identified a tyr311-to-cys (Y311C) substitution in homoallelic state in the UROD gene as the cause of hepatoerythropoietic porphyria (HEP; see <a href="/entry/176100">176100</a>). Mutant cDNA corresponding to the Y311C change was created by site-directed mutagenesis. The recombinant protein proved to have subnormal enzyme activity and was thermolabile. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8644733" 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>.0008 PORPHYRIA CUTANEA TARDA</strong>
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UROD, GLU314GLU
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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> rs121918062 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918062;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/rs121918062?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=rs121918062" 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=rs121918062" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000090 OR RCV001851503 OR RCV004547442" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000090, RCV001851503, RCV004547442" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000090...</a>
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<p>In their family 1 with porphyria cutanea tarda (PCT; <a href="/entry/176100">176100</a>), <a href="#14" class="mim-tip-reference" title="Mendez, M., Sorkin, L., Rossetti, M. V., Astrin, K. H., Batlle, A. M. del C., Parera, V. E., Aizencang, G., Desnick, R. J. <strong>Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.</strong> Am. J. Hum. Genet. 63: 1363-1375, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792863</a>] [<a href="https://doi.org/10.1086/302119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792863">Mendez et al. (1998)</a> found that the proband had a heterozygous G-to-A transition in the last base of exon 9 of the UROD gene causing a GAG (glu) to GAA (glu) change at codon 314; the amino acid sequence was not altered. However, the splicing of intron 9 was defective; the entire 67-bp exon 9 was deleted and exon 8 was joined directly to exon 10. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0009" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0009 PORPHYRIA CUTANEA TARDA</strong>
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UROD, MET165ARG
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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> rs121918063 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918063;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/rs121918063?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=rs121918063" 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=rs121918063" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000091 OR RCV004719600" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000091, RCV004719600" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000091...</a>
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<p>In a patient of Italian ancestry with porphyria cutanea tarda (PCT; <a href="/entry/176100">176100</a>), <a href="#14" class="mim-tip-reference" title="Mendez, M., Sorkin, L., Rossetti, M. V., Astrin, K. H., Batlle, A. M. del C., Parera, V. E., Aizencang, G., Desnick, R. J. <strong>Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.</strong> Am. J. Hum. Genet. 63: 1363-1375, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792863</a>] [<a href="https://doi.org/10.1086/302119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792863">Mendez et al. (1998)</a> identified a heterozygous met165-to-arg substitution in the UROD gene product. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0010" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0010 PORPHYRIA CUTANEA TARDA</strong>
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UROD, LEU195PHE
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918064 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918064;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=rs121918064" 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=rs121918064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000092" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000092" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000092</a>
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<p>In a patient of Spanish ancestry with porphyria cutanea tarda (PCT; <a href="/entry/176100">176100</a>), <a href="#14" class="mim-tip-reference" title="Mendez, M., Sorkin, L., Rossetti, M. V., Astrin, K. H., Batlle, A. M. del C., Parera, V. E., Aizencang, G., Desnick, R. J. <strong>Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.</strong> Am. J. Hum. Genet. 63: 1363-1375, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792863</a>] [<a href="https://doi.org/10.1086/302119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792863">Mendez et al. (1998)</a> identified a heterozygous leu195-to-phe (L195F) substitution in the UROD gene product. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0011" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0011 PORPHYRIA CUTANEA TARDA</strong>
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UROD, ASN304LYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918065 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918065;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=rs121918065" 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=rs121918065" 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=RCV000000093 OR RCV001851504" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000093, RCV001851504" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000093...</a>
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<p>In a patient of Spanish ancestry with porphyria cutanea tarda (PCT; <a href="/entry/176100">176100</a>), <a href="#14" class="mim-tip-reference" title="Mendez, M., Sorkin, L., Rossetti, M. V., Astrin, K. H., Batlle, A. M. del C., Parera, V. E., Aizencang, G., Desnick, R. J. <strong>Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.</strong> Am. J. Hum. Genet. 63: 1363-1375, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792863</a>] [<a href="https://doi.org/10.1086/302119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792863">Mendez et al. (1998)</a> identified a heterozygous asn304-to-lys (N304K) substitution in the UROD gene product. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792863" 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 PORPHYRIA CUTANEA TARDA</strong>
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UROD, ARG332HIS
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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> rs121918066 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918066;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/rs121918066?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=rs121918066" 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=rs121918066" 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=RCV000000094" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000094" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000094</a>
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<p>In a patient of Portuguese ancestry with porphyria cutanea tarda (PCT; <a href="/entry/176100">176100</a>), <a href="#14" class="mim-tip-reference" title="Mendez, M., Sorkin, L., Rossetti, M. V., Astrin, K. H., Batlle, A. M. del C., Parera, V. E., Aizencang, G., Desnick, R. J. <strong>Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.</strong> Am. J. Hum. Genet. 63: 1363-1375, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792863</a>] [<a href="https://doi.org/10.1086/302119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792863">Mendez et al. (1998)</a> identified a heterozygous arg332-to-his (R332H) substitution in the UROD gene product. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792863" 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 PORPHYRIA CUTANEA TARDA</strong>
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UROD, 10-BP DEL, NT5
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397514764 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514764;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=rs397514764" 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=rs397514764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000054829" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000054829" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000054829</a>
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<p>In a Spanish patient with porphyria cutanea tarda (PCT; <a href="/entry/176100">176100</a>), <a href="#1" class="mim-tip-reference" title="Badenas, C., To-Figueras, J., Phillips, J. D., Warby, C. A., Munoz, C., Herrero, C. <strong>Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives.</strong> Clin. Genet. 75: 346-353, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19419417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19419417</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19419417[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/10.1111/j.1399-0004.2009.01153.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19419417">Badenas et al. (2009)</a> identified a 10-bp deletion in exon 1 of the UROD gene (5del10). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19419417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0014" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0014 PORPHYRIA CUTANEA TARDA</strong>
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UROD, GLN116TER
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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> rs397514765 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514765;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/rs397514765?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=rs397514765" 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=rs397514765" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000054830" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000054830" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000054830</a>
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<span class="mim-text-font">
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<p>In a Spanish patient with porphyria cutanea tarda (PCT; <a href="/entry/176100">176100</a>), <a href="#1" class="mim-tip-reference" title="Badenas, C., To-Figueras, J., Phillips, J. D., Warby, C. A., Munoz, C., Herrero, C. <strong>Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives.</strong> Clin. Genet. 75: 346-353, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19419417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19419417</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19419417[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/10.1111/j.1399-0004.2009.01153.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19419417">Badenas et al. (2009)</a> identified a 346C-T transition in exon 5 of the UROD gene, resulting in a gln116-to-ter (Q116X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19419417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="seeAlso" class="mim-anchor"></a>
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<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>See Also:</strong>
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<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
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<a href="#de1986" class="mim-tip-reference" title="de Verneuil, H., Grandchamp, B., Romeo, P. H., Raich, N., Beaumont, C., Goossens, M., Nicolas, H., Nordmann, Y. <strong>Molecular analysis of uroporphyrinogen decarboxylase deficiency in a family with two cases of hepatoerythropoietic porphyria.</strong> J. Clin. Invest. 77: 431-435, 1986.">de Verneuil et al. (1986)</a>; <a href="#Garey1988" class="mim-tip-reference" title="Garey, J. R., Hansen, J. L., Kushner, J. P. <strong>The molecular basis of familial porphyria cutanea tarda (F-PCT). (Abstract)</strong> Clin. Res. 36: 612A, 1988.">Garey et al. (1988)</a>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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Badenas, C., To-Figueras, J., Phillips, J. D., Warby, C. A., Munoz, C., Herrero, C.
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<strong>Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives.</strong>
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Clin. Genet. 75: 346-353, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19419417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19419417</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19419417[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19419417" 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.1399-0004.2009.01153.x" target="_blank">Full Text</a>]
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Bahary, N., Zorich, G., Pachter, J. E., Leibel, R. L., Friedman, J. M.
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<strong>Molecular genetic linkage maps of mouse chromosomes 4 and 6.</strong>
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Genomics 11: 33-47, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1684952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1684952</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1684952" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(91)90099-z" target="_blank">Full Text</a>]
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<a id="de Verneuil1992" class="mim-anchor"></a>
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de Verneuil, H., Bourgeois, F., de Rooij, F., Siersema, P. D., Wilson, J. H. P., Grandchamp, B., Nordmann, Y.
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<strong>Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria.</strong>
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Hum. Genet. 89: 548-552, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1634232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1634232</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1634232" 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/BF00219182" target="_blank">Full Text</a>]
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<a id="de Verneuil1986" class="mim-anchor"></a>
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de Verneuil, H., Grandchamp, B., Beaumont, C., Picat, C., Nordmann, Y.
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<strong>Uroporphyrinogen decarboxylase structural mutant (gly281-to-glu) in a case of porphyria.</strong>
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Science 234: 732-734, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3775362/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3775362</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3775362" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.3775362" target="_blank">Full Text</a>]
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<a id="de Verneuil1984" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1007/BF00286601" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI112321" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00291248" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00401245" target="_blank">Full Text</a>]
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<strong>Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda.</strong>
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[<a href="https://doi.org/10.1172/JCI114856" target="_blank">Full Text</a>]
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<strong>Localization of the uroporphyrinogen decarboxylase gene to 1p34 band, by in situ hybridization. (Abstract)</strong>
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<strong>Assignment of uroporphyrinogen decarboxylase (UROD) to the pter-p21 region of human chromosome 1.</strong>
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[<a href="https://doi.org/10.1159/000132139" target="_blank">Full Text</a>]
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<strong>Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.</strong>
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[<a href="https://doi.org/10.1086/302119" target="_blank">Full Text</a>]
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Moran-Jimenez, M. J., Ged, C., Romana, M., Enriquez de Salamanca, R., Taieb, A., Topi, G., D'Alessandro, L., de Verneuil, H.
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Roberts, A. G., Elder, G. H., De Salamanca, R. E., Herrero, C., Lecha, M., Mascaro, J. M.
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<strong>A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients.</strong>
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[<a href="https://doi.org/10.1111/1523-1747.ep12605953" target="_blank">Full Text</a>]
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Romana, M., Dubart, A., Beaupain, D., Chabret, C., Goossens, M., Romeo, P.-H.
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<strong>Structure of the gene for human uroporphyrinogen decarboxylase.</strong>
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[<a href="https://doi.org/10.1093/nar/15.18.7343" target="_blank">Full Text</a>]
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<strong>Identification of a new mutation responsible for hepatoerythropoietic porphyria.</strong>
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[<a href="https://doi.org/10.1111/j.1365-2362.1991.tb01814.x" target="_blank">Full Text</a>]
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Romeo, P.-H., Raich, N., Dubart, A., Beaupain, D., Pryor, M., Kushner, J., Cohen-Solal, M., Goossens, M.
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<strong>Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNA.</strong>
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Sassa, S., de Verneuil, H., Anderson, K. E., Kappas, A.
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<strong>Purification and properties of human erythrocyte uroporphyrinogen decarboxylase: immunological demonstration of the enzyme defect in porphyria cutanea tarda.</strong>
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Jumana Al-Aama - updated : 9/11/2013
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Carol A. Bocchini : 8/6/2010
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carol : 09/06/2018<br>carol : 09/11/2013<br>carol : 9/11/2013<br>carol : 8/21/2013<br>carol : 8/6/2010
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>*</strong> 613521
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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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UROPORPHYRINOGEN DECARBOXYLASE; UROD
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: UROD</em></strong>
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</span>
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</p>
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</div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 111386004, 61860000;
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<strong>ICD10CM:</strong> E80.1;
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</span>
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</p>
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</div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 1p34.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:45,012,254-45,015,575 </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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1p34.1
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</span>
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</td>
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<td>
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<span class="mim-font">
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Porphyria cutanea tarda
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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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176100
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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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<tr>
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<td>
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<span class="mim-font">
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Porphyria, hepatoerythropoietic
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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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176100
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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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</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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<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>Uroporphyrinogen decarboxylase (UROD; EC 4.1.1.37) is a cytosolic enzyme involved in the biosynthesis of heme. It catalyzes the sequential removal of 4 of the carboxymethyl side chains of uroporphyrinogen to yield coproporphyrinogen. Sassa et al. (1983) purified UROD to homogeneity. A single enzyme is involved in the 4 successive decarboxylations. </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>Romeo et al. (1986) cloned and sequenced a full-length cDNA coding for human UROD. The deduced 367-amino acid protein has a molecular mass of 40.8 kD. Northern blot analysis demonstrated the presence of a single size species of mRNA in erythroid and nonerythroid tissues and in several cultured cell lines. The level of UROD mRNA was markedly increased in tissues and cell lines of erythroid origin. </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>Romana et al. (1987) demonstrated that the UROD gene has 10 exons spread over 3 kb. </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>De Verneuil et al. (1984) assigned the locus for uroporphyrinogen decarboxylase to chromosome 1 by somatic cell hybridization and specific enzyme assay. This was the fourth enzyme of the heme biosynthetic pathway to be mapped; the other 3 are CPOX (612732) on 9, PBGD (609806) on 11, and ALAD (125270) on 9. Mattei et al. (1985) used a cDNA clone to localize UROD to 1p34 by in situ hybridization. McLellan et al. (1985) arrived at a different location, 1pter-1p21, by somatic cell hybridization using cell lines with rearranged chromosomes. Using a cDNA probe in both somatic cell and in situ hybridization, Dubart et al. (1986) confirmed the assignment to 1p34. </p><p>Bahary et al. (1991) assigned the homologous Urod gene to chromosome 4 of the mouse. </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>Porphyria Cutanea Tarda</em></strong></p><p>
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In the UROD cDNA from a patient with familial porphyria cutanea tarda (PCT; 176100), Garey et al. (1989) demonstrated a heterozygous gly281-to-val substitution (G281V; 613521.0001). The mutation was not detected in affected persons from 7 other PCT pedigrees with an autosomal dominant pattern of inheritance. </p><p><strong><em>Hepatoerythropoietic Porphyria</em></strong></p><p>
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In a Tunisian family with hepatoerythropoietic porphyria (HEP; see 176100), de Verneuil et al. (1988) identified homozygosity for a G281E mutation (613521.0002) in the UROD gene product. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>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 PORPHYRIA CUTANEA TARDA</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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UROD, GLY281VAL
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<br />
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SNP: rs121918057,
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gnomAD: rs121918057,
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ClinVar: RCV000000082, RCV002512589
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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 with familial porphyria cutanea tarda (PCT; 176100), Garey et al. (1989) identified heterozygosity for a gly281-to-val (G281V) mutation in UROD cDNA. </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 PORPHYRIA, HEPATOERYTHROPOIETIC</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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PORPHYRIA CUTANEA TARDA, INCLUDED
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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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UROD, GLY281GLU
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<br />
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SNP: rs121918057,
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gnomAD: rs121918057,
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ClinVar: RCV000000083, RCV000024023, RCV000240661, RCV003555873
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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>De Verneuil et al. (1986) cloned and sequenced cDNA for the mutated gene in 1 of their 2 homozygous patients with hepatoerythropoietic porphyria (HEP; see 176100) and found that the glycine residue at position 281 was replaced by glutamic acid (G281E). This single amino acid change led to a protein that was rapidly degraded in the presence of cell lysate. Using a synthetic oligonucleotide probe to screen for the presence of the G281E mutation, de Verneuil et al. (1988) demonstrated the mutation in HEP-affected members of 2 unrelated families from Spain, but found that it was absent in 2 other HEP patients from Italy and Portugal. Moreover, the mutation was not detected in 13 unrelated cases of familial porphyria cutanea tarda. </p><p>Garey et al. (1989) demonstrated this substitution in homozygous state in a patient with HEP. </p><p>In a study of 5 Spanish families with hepatoerythropoietic porphyria and 9 unrelated Spanish patients with familial porphyria cutanea tarda, Roberts et al. (1995) found homozygosity for the G281E mutation in 4 patients with HEP and compound heterozygosity for this mutation in the fifth. The calculated carrier frequency for G281E in Spain was 1 in 1,800. None of the 9 familial porphyria cutanea tarda patients carried the G281E mutation. However, one G281E heterozygote in a family with hepatoerythropoietic porphyria had overt porphyria cutanea tarda (PCT; 176100). These findings suggested that the G281E mutation is functionally less severe than erythrocyte measurements indicate, that its clinical penetrance is very low in heterozygotes, and that, for this particular mutation, hepatoerythropoietic porphyria is the homozygous form of familial porphyria cutanea tarda. The results also indicated that HEP in Spain is genetically homogeneous, since 9 of the 10 UROD-deficient chromosomes carried the G281E mutation. In contrast, studies in most of the 14 families reported from outside Spain were likely to have different mutations. The parents of only 1 of the Spanish cases were consanguineous, and the other families came from widely different regions of Spain and did not appear to be related. The mutation probably entered Spain in the distant past and had become widely distributed. The G281E mutation was originally described in a Tunisian family (de Verneuil et al., 1988). </p><p>In a Spanish family, Moran-Jimenez et al. (1996) found homozygosity for the G281E mutation as the cause of HEP. A paternal uncle of the proband developed clinically overt porphyria cutanea tarda as an adult and proved to be heterozygous for the G281E 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">
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<strong>.0003 PORPHYRIA CUTANEA TARDA</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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UROD, IVS6DS, G-C, +1
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<br />
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SNP: rs145195562,
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gnomAD: rs145195562,
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ClinVar: RCV000000085, RCV001387743
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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 affected members of 5 of 22 unrelated families segregating porphyria cutanea tarda (PCT; 176100), Garey et al. (1990) found a heterozygous splice site mutation in the UROD gene (IVS6+1G-C). The mutation resulted in the deletion of exon 6. The intron/exon junctions on either side of exon 6 fall between codons; thus, the resulting protein is shorter than the normal protein, missing only the amino acids coded by exon 6. The shortened protein lacked catalytic activity, was rapidly degraded when exposed to human lymphocyte lysates, and was not detectable by Western blot analysis in lymphocyte lysates derived from affected persons. </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>.0004 PORPHYRIA, HEPATOERYTHROPOIETIC</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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UROD, GLU167LYS
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<br />
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SNP: rs121918058,
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ClinVar: RCV000000086, RCV001804706
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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>Romana et al. (1991) demonstrated that a patient with hepatoerythropoietic porphyria (HEP; see 176100) was homozygous for a GAG-to-AAG mutation in the UROD gene that changed glutamic acid-167 to lysine (E167K). </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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<h4>
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<span class="mim-font">
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<strong>.0005 PORPHYRIA, HEPATOERYTHROPOIETIC</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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UROD, ARG292GLY
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<br />
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SNP: rs121918059,
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gnomAD: rs121918059,
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ClinVar: RCV000000087
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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 2 Dutch sisters with hepatoerythropoietic porphyria (HEP; see 176100), de Verneuil et al. (1992) demonstrated compound heterozygosity for a deletion inherited from the father and an R292G mutation inherited from the mother. </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>.0006 PORPHYRIA, HEPATOERYTHROPOIETIC</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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UROD, PRO62LEU
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<br />
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SNP: rs121918060,
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ClinVar: RCV000000088, RCV001851501
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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 affected members of a Portuguese family segregating hepatoerythropoietic porphyria (HEP; see 176100), Moran-Jimenez et al. (1996) demonstrated homozygosity for a pro61-to-leu (P62L) substitution in UROD. Mutant cDNA corresponding to the P62L change was created by site-directed mutagenesis. The recombinant protein proved to have subnormal enzyme activity. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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|
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|
</div>
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|
|
<div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 PORPHYRIA, HEPATOERYTHROPOIETIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROD, TYR311CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121918061,
|
|
|
|
|
|
gnomAD: rs121918061,
|
|
|
|
|
|
ClinVar: RCV000000089, RCV000626082, RCV001851502
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Italian family, Moran-Jimenez et al. (1996) identified a tyr311-to-cys (Y311C) substitution in homoallelic state in the UROD gene as the cause of hepatoerythropoietic porphyria (HEP; see 176100). Mutant cDNA corresponding to the Y311C change was created by site-directed mutagenesis. The recombinant protein proved to have subnormal enzyme activity and was thermolabile. </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 PORPHYRIA CUTANEA TARDA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROD, GLU314GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121918062,
|
|
|
|
|
|
gnomAD: rs121918062,
|
|
|
|
|
|
ClinVar: RCV000000090, RCV001851503, RCV004547442
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In their family 1 with porphyria cutanea tarda (PCT; 176100), Mendez et al. (1998) found that the proband had a heterozygous G-to-A transition in the last base of exon 9 of the UROD gene causing a GAG (glu) to GAA (glu) change at codon 314; the amino acid sequence was not altered. However, the splicing of intron 9 was defective; the entire 67-bp exon 9 was deleted and exon 8 was joined directly to exon 10. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 PORPHYRIA CUTANEA TARDA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROD, MET165ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121918063,
|
|
|
|
|
|
gnomAD: rs121918063,
|
|
|
|
|
|
ClinVar: RCV000000091, RCV004719600
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient of Italian ancestry with porphyria cutanea tarda (PCT; 176100), Mendez et al. (1998) identified a heterozygous met165-to-arg substitution in the UROD gene product. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 PORPHYRIA CUTANEA TARDA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROD, LEU195PHE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121918064,
|
|
|
|
|
|
|
|
ClinVar: RCV000000092
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient of Spanish ancestry with porphyria cutanea tarda (PCT; 176100), Mendez et al. (1998) identified a heterozygous leu195-to-phe (L195F) substitution in the UROD gene product. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 PORPHYRIA CUTANEA TARDA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROD, ASN304LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121918065,
|
|
|
|
|
|
|
|
ClinVar: RCV000000093, RCV001851504
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient of Spanish ancestry with porphyria cutanea tarda (PCT; 176100), Mendez et al. (1998) identified a heterozygous asn304-to-lys (N304K) substitution in the UROD gene product. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 PORPHYRIA CUTANEA TARDA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROD, ARG332HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121918066,
|
|
|
|
|
|
gnomAD: rs121918066,
|
|
|
|
|
|
ClinVar: RCV000000094
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient of Portuguese ancestry with porphyria cutanea tarda (PCT; 176100), Mendez et al. (1998) identified a heterozygous arg332-to-his (R332H) substitution in the UROD gene product. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 PORPHYRIA CUTANEA TARDA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROD, 10-BP DEL, NT5
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397514764,
|
|
|
|
|
|
|
|
ClinVar: RCV000054829
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Spanish patient with porphyria cutanea tarda (PCT; 176100), Badenas et al. (2009) identified a 10-bp deletion in exon 1 of the UROD gene (5del10). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 PORPHYRIA CUTANEA TARDA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROD, GLN116TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397514765,
|
|
|
|
|
|
gnomAD: rs397514765,
|
|
|
|
|
|
ClinVar: RCV000054830
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Spanish patient with porphyria cutanea tarda (PCT; 176100), Badenas et al. (2009) identified a 346C-T transition in exon 5 of the UROD gene, resulting in a gln116-to-ter (Q116X) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
de Verneuil et al. (1986); Garey et al. (1988)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Badenas, C., To-Figueras, J., Phillips, J. D., Warby, C. A., Munoz, C., Herrero, C.
|
|
<strong>Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives.</strong>
|
|
Clin. Genet. 75: 346-353, 2009.
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|
|
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|
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[PubMed: 19419417]
|
|
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|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.2009.01153.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bahary, N., Zorich, G., Pachter, J. E., Leibel, R. L., Friedman, J. M.
|
|
<strong>Molecular genetic linkage maps of mouse chromosomes 4 and 6.</strong>
|
|
Genomics 11: 33-47, 1991.
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|
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|
|
[PubMed: 1684952]
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|
|
[Full Text: https://doi.org/10.1016/0888-7543(91)90099-z]
|
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|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
de Verneuil, H., Bourgeois, F., de Rooij, F., Siersema, P. D., Wilson, J. H. P., Grandchamp, B., Nordmann, Y.
|
|
<strong>Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria.</strong>
|
|
Hum. Genet. 89: 548-552, 1992.
|
|
|
|
|
|
[PubMed: 1634232]
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|
|
[Full Text: https://doi.org/10.1007/BF00219182]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
de Verneuil, H., Grandchamp, B., Beaumont, C., Picat, C., Nordmann, Y.
|
|
<strong>Uroporphyrinogen decarboxylase structural mutant (gly281-to-glu) in a case of porphyria.</strong>
|
|
Science 234: 732-734, 1986.
|
|
|
|
|
|
[PubMed: 3775362]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.3775362]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
de Verneuil, H., Grandchamp, B., Foubert, C., Weil, D., Van Cong, N., Gross, M.-S., Sassa, S., Nordmann, Y.
|
|
<strong>Assignment of the gene for uroporphyrinogen decarboxylase to human chromosome 1 by somatic cell hybridization and specific enzyme immunoassay.</strong>
|
|
Hum. Genet. 66: 202-205, 1984.
|
|
|
|
|
|
[PubMed: 6370830]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00286601]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
de Verneuil, H., Grandchamp, B., Romeo, P. H., Raich, N., Beaumont, C., Goossens, M., Nicolas, H., Nordmann, Y.
|
|
<strong>Molecular analysis of uroporphyrinogen decarboxylase deficiency in a family with two cases of hepatoerythropoietic porphyria.</strong>
|
|
J. Clin. Invest. 77: 431-435, 1986.
|
|
|
|
|
|
[PubMed: 3753711]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI112321]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
de Verneuil, H., Hansen, J., Picat, C., Grandchamp, B., Kushner, J., Roberts, A., Elder, G., Nordmann, Y.
|
|
<strong>Prevalence of the 281 (gly-to-glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda.</strong>
|
|
Hum. Genet. 78: 101-102, 1988.
|
|
|
|
|
|
[PubMed: 2892774]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00291248]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dubart, A., Mattei, M. G., Raich, N., Beaupain, D., Romeo, P. H., Mattei, J. F., Goossens, M.
|
|
<strong>Assignment of human uroporphyrinogen decarboxylase (URO-D) to the p34 band of chromosome 1.</strong>
|
|
Hum. Genet. 73: 277-279, 1986.
|
|
|
|
|
|
[PubMed: 3460962]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00401245]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Garey, J. R., Hansen, J. L., Harrison, L. M., Kennedy, J. B., Kushner, J. P.
|
|
<strong>A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda.</strong>
|
|
Blood 73: 892-895, 1989.
|
|
|
|
|
|
[PubMed: 2920211]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Garey, J. R., Hansen, J. L., Kushner, J. P.
|
|
<strong>The molecular basis of familial porphyria cutanea tarda (F-PCT). (Abstract)</strong>
|
|
Clin. Res. 36: 612A, 1988.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Garey, J. R., Harrison, L. M., Franklin, K. F., Metcalf, K. M., Radisky, E. S., Kushner, J. P.
|
|
<strong>Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda.</strong>
|
|
J. Clin. Invest. 86: 1416-1422, 1990.
|
|
|
|
|
|
[PubMed: 2243121]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI114856]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mattei, M. G., Dubart, A., Beaupain, D., Goossens, M., Mattei, J. F.
|
|
<strong>Localization of the uroporphyrinogen decarboxylase gene to 1p34 band, by in situ hybridization. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 40: 692, 1985.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McLellan, T., Pryor, M. A., Kushner, J. P., Eddy, R. L., Shows, T. B.
|
|
<strong>Assignment of uroporphyrinogen decarboxylase (UROD) to the pter-p21 region of human chromosome 1.</strong>
|
|
Cytogenet. Cell Genet. 39: 224-227, 1985.
|
|
|
|
|
|
[PubMed: 4042691]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000132139]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mendez, M., Sorkin, L., Rossetti, M. V., Astrin, K. H., Batlle, A. M. del C., Parera, V. E., Aizencang, G., Desnick, R. J.
|
|
<strong>Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.</strong>
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Moran-Jimenez, M. J., Ged, C., Romana, M., Enriquez de Salamanca, R., Taieb, A., Topi, G., D'Alessandro, L., de Verneuil, H.
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<strong>Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.</strong>
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Roberts, A. G., Elder, G. H., De Salamanca, R. E., Herrero, C., Lecha, M., Mascaro, J. M.
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<strong>A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients.</strong>
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J. Invest. Derm. 104: 500-502, 1995.
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Romana, M., Dubart, A., Beaupain, D., Chabret, C., Goossens, M., Romeo, P.-H.
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<strong>Structure of the gene for human uroporphyrinogen decarboxylase.</strong>
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Romana, M., Grandchamp, B., Dubart, A., Amselem, S., Chabret, C., Nordmann, Y., Goossens, M., Romeo, P.-H.
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<strong>Identification of a new mutation responsible for hepatoerythropoietic porphyria.</strong>
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<p class="mim-text-font">
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Romeo, P.-H., Raich, N., Dubart, A., Beaupain, D., Pryor, M., Kushner, J., Cohen-Solal, M., Goossens, M.
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<strong>Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNA.</strong>
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Sassa, S., de Verneuil, H., Anderson, K. E., Kappas, A.
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<strong>Purification and properties of human erythrocyte uroporphyrinogen decarboxylase: immunological demonstration of the enzyme defect in porphyria cutanea tarda.</strong>
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[PubMed: 6437037]
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