3281 lines
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Entry
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- #121300 - COPROPORPHYRIA, HEREDITARY; HCP
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- OMIM
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<p>
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<span class="h4">#121300</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/121300"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=COPROPORPHYRIA, HEREDITARY" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11299&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK114807/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/3350" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=121300[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79273" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:13269" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/121300" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:121300" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<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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</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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<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> 7425008<br />
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<strong>ICD10CM:</strong> E80.29<br />
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<strong>ORPHA:</strong> 79273<br />
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<strong>DO:</strong> 13269<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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121300
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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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COPROPORPHYRIA, HEREDITARY; HCP
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
COPROPORPHYRINOGEN OXIDASE DEFICIENCY<br />
|
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CPOX DEFICIENCY<br />
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CPO DEFICIENCY<br />
|
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CPX DEFICIENCY
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/3/494?start=-3&limit=10&highlight=494">
|
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3q11.2
|
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Coproporphyria
|
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|
</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/121300"> 121300 </a>
|
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
CPOX
|
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</span>
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</td>
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612732"> 612732 </a>
|
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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 ">
|
|
<a href="/clinicalSynopsis/121300" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
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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>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/121300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/121300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
|
</div>
|
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|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br /> -
|
|
Autosomal recessive (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
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|
|
|
</div>
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Tachycardia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86651002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86651002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3424008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3424008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R00.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R00.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/785.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">785.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3827868&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3827868</a>, <a href="https://bioportal.bioontology.org/search?q=C0039231&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039231</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001649" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001649</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001649" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001649</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypertension <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38341003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38341003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/401-405.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">401-405.99</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/997.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">997.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Abdominal pain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/21522001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">21522001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R10.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R10.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/789.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0000737&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0000737</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002027</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002027</a>]</span><br /> -
|
|
Vomiting <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422400008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422400008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/300359004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">300359004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249497008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249497008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042963&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042963</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002013</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002013</a>]</span><br /> -
|
|
Constipation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14760008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14760008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K59.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K59.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K59.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K59.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/564.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">564.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/564.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">564.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009806&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009806</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002019" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002019</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002019" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002019</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Photosensitivity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90128006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90128006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349506&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349506</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000992" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000992</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000992" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000992</a>]</span><br /> -
|
|
Skin fragility <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247427007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247427007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241181&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241181</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001030</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001030</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
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</div>
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</div>
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<div>
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<span class="h5 mim-font">
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<strong> NEUROLOGIC </strong>
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<div style="margin-left: 2em;">
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<span class="h5 mim-font">
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<em> Peripheral Nervous System </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Peripheral neuropathy (motor and sensory) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393032&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393032</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42658009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42658009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302226006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302226006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G64" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G64</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/350-359.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">350-359.99</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009830" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009830</a>]</span><br />
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</span>
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<div>
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<span class="h5 mim-font">
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<em> Behavioral Psychiatric Manifestations </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Depression <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78667006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78667006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35489007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35489007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/366979004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">366979004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/255339005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">255339005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F34.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F34.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F32.A" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F32.A</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F33.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F33.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0812393&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0812393</a>, <a href="https://bioportal.bioontology.org/search?q=C0011581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011581</a>, <a href="https://bioportal.bioontology.org/search?q=C0460137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0460137</a>, <a href="https://bioportal.bioontology.org/search?q=C1579931&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1579931</a>, <a href="https://bioportal.bioontology.org/search?q=C0344315&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344315</a>, <a href="https://bioportal.bioontology.org/search?q=C4085311&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4085311</a>, <a href="https://bioportal.bioontology.org/search?q=C0011570&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011570</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span><br />
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Increased urinary 5-aminolevulinic acid (ALA, acute attack) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393033&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393033</a>]</span><br /> -
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Increased urinary porphobilinogen (PBG, acute attack) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393034</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012217" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012217</a>]</span><br /> -
|
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Increased coproporphinogen III (urine and fecal) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393035&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393035</a>]</span><br /> -
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Coproporphinogen oxidase deficiency (approximately 50% activity, fibroblasts and lymphocytes) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5394632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5394632</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Coproporphyria is a form of hepatic porphyria<br /> -
|
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Many individuals are asymptomatic (incomplete penetrance)<br /> -
|
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Neurovisceral symptoms manifest during episodic, acute attacks<br /> -
|
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Symptoms rare before puberty<br /> -
|
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Precipitating factors include: certain drugs, alcohol, menstrual cycle, and fasting<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the coproporphyrinogen oxidase gene (CPO, <a href="/entry/612732#0001">612732.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because hereditary coproporphyria (HCP) is caused by heterozygous mutation in the CPOX gene (<a href="/entry/612732">612732</a>) on chromosome 3q12. Rare cases of homozygous mutation have been reported.</p><p>Biallelic mutation in the CPOX gene can cause harderoporphyria (HARPO; <a href="/entry/618892">618892</a>), a variant form of coproporphyria.</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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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Hereditary coproporphyria (HCP), an acute hepatic porphyria, is characterized by acute attacks of neurologic dysfunction often provoked by drugs, fasting, menstrual cycle, or infectious diseases. Skin photosensitivity may also be present. Inheritance is usually autosomal dominant, but autosomal recessive inheritance can also occur. Excretion of large amounts of coproporphyrin III, mostly in feces and urine, is observed (review by <a href="#23" class="mim-tip-reference" title="Schmitt, C., Gouya, L., Malonova, E., Lamoril, J., Camadro, J.-M., Flamme, M., Rose, C., Lyoumi, S., Da Silva, V., Boileau, C., Grandchamp, B., Beaumont, C., Deybach, J.-C., Puy, H. <strong>Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.</strong> Hum. Molec. Genet. 14: 3089-3098, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16159891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16159891</a>] [<a href="https://doi.org/10.1093/hmg/ddi342" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16159891">Schmitt et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16159891" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<span class="mim-text-font">
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<p>The first case of coproporphyria, reported by <a href="#5" class="mim-tip-reference" title="Berger, H., Goldberg, A. <strong>Hereditary coproporphyria.</strong> Brit. Med. J. 2: 85-88, 1955.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14378650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14378650</a>] [<a href="https://doi.org/10.1136/bmj.2.4931.85" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14378650">Berger and Goldberg (1955)</a>, was the offspring of first-cousin parents, both of whom showed excessive excretion of coproporphyrin III. The authors suggested that the disorder is autosomal dominant and that their proband was homozygous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14378650" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Barnes, H. D., Whittaker, N. <strong>Hereditary coproporphyria with acute intermittent manifestations.</strong> Brit. Med. J. 2: 1102-1104, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5838412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5838412</a>] [<a href="https://doi.org/10.1136/bmj.2.5470.1102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5838412">Barnes and Whittaker (1965)</a> described 4 of 5 sibs who were affected. The parents were not tested. Marked elevation of coproporphyria in the feces differentiated the condition from acute intermittent porphyria (AIP; <a href="/entry/176000">176000</a>) in which stool porphyrins are usually normal and from variegate porphyria (VP; <a href="/entry/176200">176200</a>) in which both coproporphyrin and protoporphyrin fractions are increased in the stool. The proband experienced typical acute porphyria. Constipation and abdominal colic were striking features in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5838412" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Goldberg, A., Rimington, C., Lochhead, A. C. <strong>Hereditary coproporphyria.</strong> Lancet 289: 632-636, 1967. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4163920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4163920</a>] [<a href="https://doi.org/10.1016/s0140-6736(67)92538-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4163920">Goldberg et al. (1967)</a> added 20 new cases. A massive excretion of coproporphyrin III in the urine and predominantly in the feces was demonstrated. Attacks resembling those of AIP were precipitated by drugs, and during attacks porphobilinogen and delta-aminolevulinic acid were excreted in the urine in excess. Photosensitivity is occasionally present and the only manifestations may be psychiatric. About half of cases are asymptomatic. This is an hepatic form of porphyria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4163920" 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 the family of <a href="#13" class="mim-tip-reference" title="Haeger-Aronsen, B., Stathers, G., Swahn, G. <strong>Hereditary coproporphyria: study of a Swedish family.</strong> Ann. Intern. Med. 69: 221-227, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5667765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5667765</a>] [<a href="https://doi.org/10.7326/0003-4819-69-2-221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5667765">Haeger-Aronsen et al. (1968)</a>, 13 persons in 5 sibships of 2 generations showed latent coproporphyria, in addition to the symptomatic proband. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5667765" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Cripps, D. J., Peters, H. A. <strong>Stool porphyrins in acute intermittent and hereditary coproporphyria: adverse effects of tranquilizers.</strong> Arch. Neurol. 23: 80-84, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4393048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4393048</a>] [<a href="https://doi.org/10.1001/archneur.1970.00480250084012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4393048">Cripps and Peters (1970)</a> found that tranquilizers, including meprobamate and chlorpromazine, precipitated attacks. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4393048" 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="#21" class="mim-tip-reference" title="McIntyre, N., Pearson, A. J. G., Allan, D. J., Craske, S., West, G. M. L., Moore, M. R., Beattie, A. D., Paxton, J., Goldberg, A. <strong>Hepatic delta-aminolaevulinic acid synthetase in an attack of hereditary coproporphyria and during remission.</strong> Lancet 297: 560-564, 1971. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4100900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4100900</a>] [<a href="https://doi.org/10.1016/s0140-6736(71)91161-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4100900">McIntyre et al. (1971)</a> noted that increased hepatic delta-aminolevulinic acid synthetase has been demonstrated in 3 forms of hereditary porphyria: AIP, VP, and coproporphyria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4100900" 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 cultured skin fibroblasts, <a href="#9" class="mim-tip-reference" title="Elder, G. H., Evans, J. O., Thomas, N., Cox, R., Brodie, M. J., Moore, M. R., Goldberg, A., Nicholson, D. C. <strong>The primary enzyme defect in hereditary coproporphyria.</strong> Lancet 308: 1217-1219, 1976. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/63041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">63041</a>] [<a href="https://doi.org/10.1016/s0140-6736(76)91143-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="63041">Elder et al. (1976)</a> found that the activity of coproporphyrinogen oxidase was about half normal. Similar findings were reported for leukocytes (<a href="#6" class="mim-tip-reference" title="Brodie, M. J., Thompson, G. G., Moore, M. R., Beattie, A. D., Goldberg, A. <strong>Hereditary coproporphyria: demonstration of the abnormalities in haem biosynthesis in peripheral blood.</strong> Quart. J. Med. 46: 229-241, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/866576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">866576</a>]" pmid="866576">Brodie et al., 1977</a>). In the homozygous patient reported by <a href="#11" class="mim-tip-reference" title="Grandchamp, B., Phung, N., Nordmann, Y. <strong>Homozygous case of hereditary coproporphyria. (Letter)</strong> Lancet 310: 1348-1349, 1977. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/74745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">74745</a>] [<a href="https://doi.org/10.1016/s0140-6736(77)90386-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="74745">Grandchamp et al. (1977)</a>, activity of coproporphyrinogen oxidase was only 2% of control values. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=866576+63041+74745" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Andrews, J., Erdjument, H., Nicholson, D. C. <strong>Hereditary coproporphyria: incidence in a large English family.</strong> J. Med. Genet. 21: 341-349, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6502649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6502649</a>] [<a href="https://doi.org/10.1136/jmg.21.5.341" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6502649">Andrews et al. (1984)</a> found 27 cases of coproporphyria in a kindred in which 135 members were screened for fecal porphyrins. Of the 135, 6 females and 1 male had probably suffered clinical attacks; the M:F ratio of cases revealed by screening was 13:14. The proband had her first attack at age 84 years; diazepam and nitrazepam were incriminated in her attack, and other drugs in the other patients. The late manifestation is indicated by the fact that this report was from a department of geriatric medicine. The earliest attack in an affected person was at age 14 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6502649" 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="#4" class="mim-tip-reference" title="Barohn, R. J., Sanchez, J. A., Anderson, K. E. <strong>Acute peripheral neuropathy due to hereditary coproporphyria.</strong> Muscle Nerve 17: 793-799, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8008008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8008008</a>] [<a href="https://doi.org/10.1002/mus.880170715" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8008008">Barohn et al. (1994)</a> described acute peripheral neuropathy with hereditary coproporphyria. This is a common feature of AIP but is rare with this form of porphyria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8008008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Gross, U., Puy, H., Meissauer, U., Lamoril, J., Deybach, J. C., Doss, M., Nordmann, Y., Doss, M. O. <strong>A molecular, enzymatic and clinical study in a family with hereditary coproporphyria.</strong> J. Inherit. Metab. Dis. 25: 279-286, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12227458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12227458</a>] [<a href="https://doi.org/10.1023/a:1016598207397" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12227458">Gross et al. (2002)</a> reported the molecular, enzymatic, and clinical study of a family with hereditary coproporphyria in which the proband was a 30-year-old woman suffering from acute crises with abdominal, neurologic, and psychiatric complaints. The proband's father, 1 brother, and a sister were found to be new carriers. The patient was treated with intravenous interval therapy with heme arginate for 10 months, with good clinical and metabolic response. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12227458" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Dominant inheritance of coproporphyria seems adequately established (<a href="#10" class="mim-tip-reference" title="Goldberg, A., Rimington, C., Lochhead, A. C. <strong>Hereditary coproporphyria.</strong> Lancet 289: 632-636, 1967. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4163920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4163920</a>] [<a href="https://doi.org/10.1016/s0140-6736(67)92538-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4163920">Goldberg et al. (1967)</a>). The disorder shows incomplete penetrance (<a href="#14" class="mim-tip-reference" title="Hasanoglu, A., Balwani, M., Kasapkara, C. S., Ezgu, F. S., Okur, I., Tumer, L., Cakmak, A., Nazarenko, I., Yu, C., Clavero, S., Bishop, D. F., Desnick, R. J. <strong>Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.</strong> J. Inherit. Metab. Dis. 34: 225-231, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21103937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21103937</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21103937[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s10545-010-9237-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21103937">Hasanoglu et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4163920+21103937" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Rare cases of coproporphyria are homozygous (see, e.g., <a href="#11" class="mim-tip-reference" title="Grandchamp, B., Phung, N., Nordmann, Y. <strong>Homozygous case of hereditary coproporphyria. (Letter)</strong> Lancet 310: 1348-1349, 1977. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/74745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">74745</a>] [<a href="https://doi.org/10.1016/s0140-6736(77)90386-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="74745">Grandchamp et al., 1977</a> and <a href="#20" class="mim-tip-reference" title="Martasek, P., Nordmann, Y., Grandchamp, B. <strong>Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms.</strong> Hum. Molec. Genet. 3: 477-480, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012360</a>] [<a href="https://doi.org/10.1093/hmg/3.3.477" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8012360">Martasek et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8012360+74745" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a study of a large family with genetically confirmed HCP, <a href="#1" class="mim-tip-reference" title="Allen, K. R., Whatley, S. D., Degg, T. J., Barth, J. H. <strong>Hereditary coproporphyria: comparison of molecular and biochemical investigations in a large family.</strong> J. Inherit. Metab. Dis. 28: 779-785, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16151909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16151909</a>] [<a href="https://doi.org/10.1007/s10545-005-0092-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16151909">Allen et al. (2005)</a> found that measurement of fecal coproporphyrin III:I ratio is a highly sensitive test for the detection of asymptomatic HCP. The proband was a 35-year-old man who presented with unexplained severe abdominal pain and was found to have an increased fecal coproporphyrin III:I ratio of 12.7. Total urine porphyrins were also elevated. There were 13 asymptomatic mutation carriers; all had an increased fecal coproporphyrin III:I ratio (mean 14.0, normal less than 1.0), and 11 (85%) had increased fecal total porphyrin. Eight (62%) of the 13 asymptomatic carriers had increased urinary total porphyrin (up to 3-fold) due to excess coproporphyrin III. All individuals studied were older than 10 years of age; the sensitivity of the test for those under 10 years of age was uncertain. Plasma fluorescence emission scanning for porphyrin was not a useful indicator. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16151909" 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 the homozygous patient with coproporphyria reported by <a href="#11" class="mim-tip-reference" title="Grandchamp, B., Phung, N., Nordmann, Y. <strong>Homozygous case of hereditary coproporphyria. (Letter)</strong> Lancet 310: 1348-1349, 1977. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/74745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">74745</a>] [<a href="https://doi.org/10.1016/s0140-6736(77)90386-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="74745">Grandchamp et al. (1977)</a>, <a href="#20" class="mim-tip-reference" title="Martasek, P., Nordmann, Y., Grandchamp, B. <strong>Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms.</strong> Hum. Molec. Genet. 3: 477-480, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012360</a>] [<a href="https://doi.org/10.1093/hmg/3.3.477" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8012360">Martasek et al. (1994)</a> demonstrated an arg231-to-trp mutation in the CPO gene (<a href="/entry/612732#0001">612732.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8012360+74745" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Lamoril, J., Puy, H., Whatley, S. D., Martin, C., Woolf, J. R., Da Silva, V., Deybach, J.-C., Elder, G. H. <strong>Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.</strong> Am. J. Hum. Genet. 68: 1130-1138, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11309681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11309681</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11309681[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/320118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11309681">Lamoril et al. (2001)</a> studied 17 unrelated British patients with HCP. They identified 10 novel and 4 previously reported CPO mutations in 15 of the 17 patients. All but 1 mutation were restricted to a single family, with a predominance of missense mutations. Both patients in whom mutations were not identified had an unequivocal diagnosis of HCP. Complete deletions of the CPO gene were excluded by showing that both patients were heterozygous for at least 1 intragenic SNP. It is probable that the causative mutations either lie outside the regions that were sequenced or were partial deletions or insertions not detected by the PCR-based methods. The findings of this study demonstrated that single copies of CPO mutations that are known or predicted to cause 'homozygous' HCP or harderoporphyria can produce typical HCP in adults and demonstrated that the severity of the phenotype does not correlate with the degree of inactivation by mutation of the coproporphyrinogen oxidase enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11309681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 5 of 9 Swedish families with HCP, <a href="#24" class="mim-tip-reference" title="Wiman, A., Floderus, Y., Harper, P. <strong>Two novel mutations and coexistence of the 991C-T and the 1339C-T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria.</strong> J. Hum. Genet. 47: 407-412, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12181641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12181641</a>] [<a href="https://doi.org/10.1007/s100380200059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12181641">Wiman et al. (2002)</a> identified heterozygous mutations in the CPO gene. In each of 2 of the families, a novel mutation was identified: ser208 to phe (S208F; <a href="/entry/612732#0010">612732.0010</a>) and arg328 to cys (R328C; <a href="/entry/612732#0011">612732.0011</a>). In the affected members of the other 3 families, 2 previously reported mutations, R331W (<a href="/entry/612732#0001">612732.0001</a>) and R447C (<a href="/entry/612732#0009">612732.0009</a>), were shown to coexist on 1 allele. This was the first report of patients carrying 2 HCP-related mutations on the same allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12181641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#23" class="mim-tip-reference" title="Schmitt, C., Gouya, L., Malonova, E., Lamoril, J., Camadro, J.-M., Flamme, M., Rose, C., Lyoumi, S., Da Silva, V., Boileau, C., Grandchamp, B., Beaumont, C., Deybach, J.-C., Puy, H. <strong>Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.</strong> Hum. Molec. Genet. 14: 3089-3098, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16159891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16159891</a>] [<a href="https://doi.org/10.1093/hmg/ddi342" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16159891">Schmitt et al. (2005)</a> noted that all 5 reported patients (from 3 families) with harderoporphyria had a K404E mutation (<a href="/entry/612732#0003">612732.0003</a>) in the CPOX gene in homozygosity or compound heterozygosity with a null mutation. Biochemical and expression studies revealed that only a few missense mutations, restricted to 5 amino acids encoded by exon 6 (D400-K404), may accumulate significant amounts of harderoporphyrin. All types of mutations occurring elsewhere throughout the CPOX gene resulted in coproporphyrin accumulation and subsequently typical HCP. They stated that this was the first metabolic disorder in which clinical expression of overt disease depended on the location and type of mutation, resulting either in acute hepatic or in erythropoietic porphyria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16159891" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Connon1968" class="mim-tip-reference" title="Connon, J. J., Turkington, V. <strong>Hereditary coproporphyria.</strong> Lancet 292: 263-264, 1968. Note: Originally Volume II.">Connon and Turkington (1968)</a>; <a href="#Hunter1971" class="mim-tip-reference" title="Hunter, J. A. A., Khan, S. A., Hope, E., Beattie, A. D., Beveridge, G. W., Smith, A. W. M., Goldberg, A. <strong>Hereditary coproporphyria. Photosensitivity, jaundice and neuropsychiatric manifestations associated with pregnancy.</strong> Brit. J. Derm. 84: 301-310, 1971.">Hunter et al. (1971)</a>; <a href="#Kohno1993" class="mim-tip-reference" title="Kohno, H., Furukawa, T., Yoshinaga, T., Tokunaga, R., Taketani, S. <strong>Coproporphyrinogen oxidase: purification, molecular cloning, and induction of mRNA during erythroid differentiation.</strong> J. Biol. Chem. 268: 21359-21363, 1993.">Kohno et al.
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(1993)</a>; <a href="#Lamoril1998" class="mim-tip-reference" title="Lamoril, J., Puy, H., Gouya, L., Rosipal, R., Da Silva, V., Grandchamp, B., Foint, T., Bader-Meunier, B., Dommergues, J. P., Deybach, J. C., Nordmann, Y. <strong>Neonatal hemolytic anemia due to inherited harderoporphyria: clinical characteristics and molecular basis.</strong> Blood 91: 1453-1457, 1998.">Lamoril et al. (1998)</a>; <a href="#Lomholt1969" class="mim-tip-reference" title="Lomholt, J. C., With, T. K. <strong>Hereditary coproporphyria: a family with unusually few and mild symptoms.</strong> Acta Med. Scand. 186: 83-85, 1969.">Lomholt and With (1969)</a>; <a href="#Roberts1977" class="mim-tip-reference" title="Roberts, D. T., Brodie, M. J., Moore, M. R., Thompson, G. G. G., Goldberg, A., MacSween, R. N. M. <strong>Hereditary coproporphyria presenting with photosensitivity induced by the contraceptive pill.</strong> Brit. J. Derm. 96: 549-554, 1977.">Roberts et
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Barohn, R. J., Sanchez, J. A., Anderson, K. E.
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<strong>Acute peripheral neuropathy due to hereditary coproporphyria.</strong>
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Muscle Nerve 17: 793-799, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8008008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8008008</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8008008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/mus.880170715" target="_blank">Full Text</a>]
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Brit. Med. J. 2: 85-88, 1955.
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Brodie, M. J., Thompson, G. G., Moore, M. R., Beattie, A. D., Goldberg, A.
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<strong>Hereditary coproporphyria: demonstration of the abnormalities in haem biosynthesis in peripheral blood.</strong>
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Connon, J. J., Turkington, V.
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<strong>Hereditary coproporphyria.</strong>
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Lancet 292: 263-264, 1968. Note: Originally Volume II.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4173691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4173691</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4173691" 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/10.1001/archneur.1970.00480250084012" target="_blank">Full Text</a>]
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Elder, G. H., Evans, J. O., Thomas, N., Cox, R., Brodie, M. J., Moore, M. R., Goldberg, A., Nicholson, D. C.
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<strong>The primary enzyme defect in hereditary coproporphyria.</strong>
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Lancet 308: 1217-1219, 1976. Note: Originally Volume II.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/63041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">63041</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=63041" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Goldberg, A., Rimington, C., Lochhead, A. C.
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<strong>Hereditary coproporphyria.</strong>
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Lancet 289: 632-636, 1967. Note: Originally Volume I.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4163920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4163920</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4163920" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(67)92538-x" target="_blank">Full Text</a>]
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Grandchamp, B., Phung, N., Nordmann, Y.
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<strong>Homozygous case of hereditary coproporphyria. (Letter)</strong>
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Lancet 310: 1348-1349, 1977. Note: Originally Volume II.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/74745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">74745</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=74745" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(77)90386-5" target="_blank">Full Text</a>]
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Gross, U., Puy, H., Meissauer, U., Lamoril, J., Deybach, J. C., Doss, M., Nordmann, Y., Doss, M. O.
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<strong>A molecular, enzymatic and clinical study in a family with hereditary coproporphyria.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12227458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12227458</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12227458" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1023/a:1016598207397" target="_blank">Full Text</a>]
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Haeger-Aronsen, B., Stathers, G., Swahn, G.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5667765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5667765</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5667765" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hasanoglu, A., Balwani, M., Kasapkara, C. S., Ezgu, F. S., Okur, I., Tumer, L., Cakmak, A., Nazarenko, I., Yu, C., Clavero, S., Bishop, D. F., Desnick, R. J.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21103937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21103937</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21103937[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21103937" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10545-010-9237-9" target="_blank">Full Text</a>]
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<a id="15" class="mim-anchor"></a>
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<a id="Hunter1971" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hunter, J. A. A., Khan, S. A., Hope, E., Beattie, A. D., Beveridge, G. W., Smith, A. W. M., Goldberg, A.
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<strong>Hereditary coproporphyria. Photosensitivity, jaundice and neuropsychiatric manifestations associated with pregnancy.</strong>
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Brit. J. Derm. 84: 301-310, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5575195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5575195</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5575195" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2133.1971.tb14223.x" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
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<a id="Kohno1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kohno, H., Furukawa, T., Yoshinaga, T., Tokunaga, R., Taketani, S.
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<strong>Coproporphyrinogen oxidase: purification, molecular cloning, and induction of mRNA during erythroid differentiation.</strong>
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J. Biol. Chem. 268: 21359-21363, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8407975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8407975</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8407975" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="17" class="mim-anchor"></a>
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<a id="Lamoril1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lamoril, J., Puy, H., Gouya, L., Rosipal, R., Da Silva, V., Grandchamp, B., Foint, T., Bader-Meunier, B., Dommergues, J. P., Deybach, J. C., Nordmann, Y.
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<strong>Neonatal hemolytic anemia due to inherited harderoporphyria: clinical characteristics and molecular basis.</strong>
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Blood 91: 1453-1457, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9454777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9454777</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9454777" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="18" class="mim-anchor"></a>
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<a id="Lamoril2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lamoril, J., Puy, H., Whatley, S. D., Martin, C., Woolf, J. R., Da Silva, V., Deybach, J.-C., Elder, G. H.
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<strong>Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.</strong>
|
|
Am. J. Hum. Genet. 68: 1130-1138, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11309681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11309681</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11309681[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11309681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/320118" target="_blank">Full Text</a>]
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Lomholt1969" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lomholt, J. C., With, T. K.
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<strong>Hereditary coproporphyria: a family with unusually few and mild symptoms.</strong>
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Acta Med. Scand. 186: 83-85, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5807649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5807649</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5807649" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="20" class="mim-anchor"></a>
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<a id="Martasek1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Martasek, P., Nordmann, Y., Grandchamp, B.
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<strong>Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms.</strong>
|
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Hum. Molec. Genet. 3: 477-480, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012360</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8012360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/3.3.477" target="_blank">Full Text</a>]
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<a id="21" class="mim-anchor"></a>
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<a id="McIntyre1971" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McIntyre, N., Pearson, A. J. G., Allan, D. J., Craske, S., West, G. M. L., Moore, M. R., Beattie, A. D., Paxton, J., Goldberg, A.
|
|
<strong>Hepatic delta-aminolaevulinic acid synthetase in an attack of hereditary coproporphyria and during remission.</strong>
|
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Lancet 297: 560-564, 1971. Note: Originally Volume I.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4100900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4100900</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4100900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(71)91161-5" target="_blank">Full Text</a>]
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<a id="22" class="mim-anchor"></a>
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<a id="Roberts1977" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Roberts, D. T., Brodie, M. J., Moore, M. R., Thompson, G. G. G., Goldberg, A., MacSween, R. N. M.
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<strong>Hereditary coproporphyria presenting with photosensitivity induced by the contraceptive pill.</strong>
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Brit. J. Derm. 96: 549-554, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/871392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">871392</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=871392" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2133.1977.tb07161.x" target="_blank">Full Text</a>]
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<a id="23" class="mim-anchor"></a>
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<a id="Schmitt2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schmitt, C., Gouya, L., Malonova, E., Lamoril, J., Camadro, J.-M., Flamme, M., Rose, C., Lyoumi, S., Da Silva, V., Boileau, C., Grandchamp, B., Beaumont, C., Deybach, J.-C., Puy, H.
|
|
<strong>Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.</strong>
|
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Hum. Molec. Genet. 14: 3089-3098, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16159891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16159891</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16159891" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddi342" target="_blank">Full Text</a>]
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<li>
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<a id="24" class="mim-anchor"></a>
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<a id="Wiman2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wiman, A., Floderus, Y., Harper, P.
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<strong>Two novel mutations and coexistence of the 991C-T and the 1339C-T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria.</strong>
|
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J. Hum. Genet. 47: 407-412, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12181641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12181641</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12181641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s100380200059" target="_blank">Full Text</a>]
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</ol>
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<br />
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 3/5/2014
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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George E. Tiller - updated : 4/16/2009<br>Anne M. Stumpf - updated : 1/19/2007<br>Ada Hamosh - updated : 10/8/2003<br>Victor A. McKusick - updated : 8/6/2002<br>Victor A. McKusick - updated : 6/13/2001<br>Victor A. McKusick - updated : 1/12/1999<br>Victor A. McKusick - updated : 12/30/1998<br>Victor A. McKusick - updated : 5/19/1998<br>Victor A. McKusick - updated : 3/31/1998<br>Victor A. McKusick - updated : 2/28/1997
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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carol : 05/22/2020
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carol : 05/14/2015<br>alopez : 4/3/2014<br>mcolton : 3/7/2014<br>ckniffin : 3/5/2014<br>wwang : 5/6/2010<br>ckniffin : 5/4/2010<br>carol : 4/17/2009<br>terry : 4/17/2009<br>carol : 4/16/2009<br>carol : 4/2/2009<br>terry : 1/13/2009<br>terry : 1/12/2009<br>alopez : 1/19/2007<br>carol : 3/17/2004<br>cwells : 10/8/2003<br>tkritzer : 8/9/2002<br>tkritzer : 8/8/2002<br>tkritzer : 8/8/2002<br>terry : 8/6/2002<br>cwells : 6/20/2001<br>cwells : 6/15/2001<br>terry : 6/13/2001<br>carol : 1/14/1999<br>terry : 1/12/1999<br>carol : 1/4/1999<br>terry : 12/30/1998<br>terry : 5/29/1998<br>carol : 5/22/1998<br>terry : 5/19/1998<br>terry : 5/19/1998<br>alopez : 3/31/1998<br>terry : 3/24/1998<br>mark : 2/28/1997<br>terry : 2/26/1997<br>mark : 4/4/1995<br>carol : 1/11/1995<br>mimadm : 6/25/1994<br>carol : 11/10/1993<br>supermim : 3/16/1992<br>carol : 3/4/1992
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<span class="mim-font">
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<strong>#</strong> 121300
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<h3>
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<span class="mim-font">
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COPROPORPHYRIA, HEREDITARY; HCP
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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COPROPORPHYRINOGEN OXIDASE DEFICIENCY<br />
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CPOX DEFICIENCY<br />
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CPO DEFICIENCY<br />
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CPX DEFICIENCY
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<strong>SNOMEDCT:</strong> 7425008;
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<strong>ICD10CM:</strong> E80.29;
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<strong>ORPHA:</strong> 79273;
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<strong>DO:</strong> 13269;
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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3q11.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Coproporphyria
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</span>
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</td>
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<td>
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<span class="mim-font">
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121300
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant; Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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CPOX
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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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612732
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because hereditary coproporphyria (HCP) is caused by heterozygous mutation in the CPOX gene (612732) on chromosome 3q12. Rare cases of homozygous mutation have been reported.</p><p>Biallelic mutation in the CPOX gene can cause harderoporphyria (HARPO; 618892), a variant form of coproporphyria.</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>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>Hereditary coproporphyria (HCP), an acute hepatic porphyria, is characterized by acute attacks of neurologic dysfunction often provoked by drugs, fasting, menstrual cycle, or infectious diseases. Skin photosensitivity may also be present. Inheritance is usually autosomal dominant, but autosomal recessive inheritance can also occur. Excretion of large amounts of coproporphyrin III, mostly in feces and urine, is observed (review by Schmitt et al., 2005). </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>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The first case of coproporphyria, reported by Berger and Goldberg (1955), was the offspring of first-cousin parents, both of whom showed excessive excretion of coproporphyrin III. The authors suggested that the disorder is autosomal dominant and that their proband was homozygous. </p><p>Barnes and Whittaker (1965) described 4 of 5 sibs who were affected. The parents were not tested. Marked elevation of coproporphyria in the feces differentiated the condition from acute intermittent porphyria (AIP; 176000) in which stool porphyrins are usually normal and from variegate porphyria (VP; 176200) in which both coproporphyrin and protoporphyrin fractions are increased in the stool. The proband experienced typical acute porphyria. Constipation and abdominal colic were striking features in these patients. </p><p>Goldberg et al. (1967) added 20 new cases. A massive excretion of coproporphyrin III in the urine and predominantly in the feces was demonstrated. Attacks resembling those of AIP were precipitated by drugs, and during attacks porphobilinogen and delta-aminolevulinic acid were excreted in the urine in excess. Photosensitivity is occasionally present and the only manifestations may be psychiatric. About half of cases are asymptomatic. This is an hepatic form of porphyria. </p><p>In the family of Haeger-Aronsen et al. (1968), 13 persons in 5 sibships of 2 generations showed latent coproporphyria, in addition to the symptomatic proband. </p><p>Cripps and Peters (1970) found that tranquilizers, including meprobamate and chlorpromazine, precipitated attacks. </p><p>McIntyre et al. (1971) noted that increased hepatic delta-aminolevulinic acid synthetase has been demonstrated in 3 forms of hereditary porphyria: AIP, VP, and coproporphyria. </p><p>In cultured skin fibroblasts, Elder et al. (1976) found that the activity of coproporphyrinogen oxidase was about half normal. Similar findings were reported for leukocytes (Brodie et al., 1977). In the homozygous patient reported by Grandchamp et al. (1977), activity of coproporphyrinogen oxidase was only 2% of control values. </p><p>Andrews et al. (1984) found 27 cases of coproporphyria in a kindred in which 135 members were screened for fecal porphyrins. Of the 135, 6 females and 1 male had probably suffered clinical attacks; the M:F ratio of cases revealed by screening was 13:14. The proband had her first attack at age 84 years; diazepam and nitrazepam were incriminated in her attack, and other drugs in the other patients. The late manifestation is indicated by the fact that this report was from a department of geriatric medicine. The earliest attack in an affected person was at age 14 years. </p><p>Barohn et al. (1994) described acute peripheral neuropathy with hereditary coproporphyria. This is a common feature of AIP but is rare with this form of porphyria. </p><p>Gross et al. (2002) reported the molecular, enzymatic, and clinical study of a family with hereditary coproporphyria in which the proband was a 30-year-old woman suffering from acute crises with abdominal, neurologic, and psychiatric complaints. The proband's father, 1 brother, and a sister were found to be new carriers. The patient was treated with intravenous interval therapy with heme arginate for 10 months, with good clinical and metabolic response. </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>Inheritance</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>Dominant inheritance of coproporphyria seems adequately established (Goldberg et al. (1967)). The disorder shows incomplete penetrance (Hasanoglu et al., 2011). </p><p>Rare cases of coproporphyria are homozygous (see, e.g., Grandchamp et al., 1977 and Martasek et al., 1994). </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>Diagnosis</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>In a study of a large family with genetically confirmed HCP, Allen et al. (2005) found that measurement of fecal coproporphyrin III:I ratio is a highly sensitive test for the detection of asymptomatic HCP. The proband was a 35-year-old man who presented with unexplained severe abdominal pain and was found to have an increased fecal coproporphyrin III:I ratio of 12.7. Total urine porphyrins were also elevated. There were 13 asymptomatic mutation carriers; all had an increased fecal coproporphyrin III:I ratio (mean 14.0, normal less than 1.0), and 11 (85%) had increased fecal total porphyrin. Eight (62%) of the 13 asymptomatic carriers had increased urinary total porphyrin (up to 3-fold) due to excess coproporphyrin III. All individuals studied were older than 10 years of age; the sensitivity of the test for those under 10 years of age was uncertain. Plasma fluorescence emission scanning for porphyrin was not a useful indicator. </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>In the homozygous patient with coproporphyria reported by Grandchamp et al. (1977), Martasek et al. (1994) demonstrated an arg231-to-trp mutation in the CPO gene (612732.0001). </p><p>Lamoril et al. (2001) studied 17 unrelated British patients with HCP. They identified 10 novel and 4 previously reported CPO mutations in 15 of the 17 patients. All but 1 mutation were restricted to a single family, with a predominance of missense mutations. Both patients in whom mutations were not identified had an unequivocal diagnosis of HCP. Complete deletions of the CPO gene were excluded by showing that both patients were heterozygous for at least 1 intragenic SNP. It is probable that the causative mutations either lie outside the regions that were sequenced or were partial deletions or insertions not detected by the PCR-based methods. The findings of this study demonstrated that single copies of CPO mutations that are known or predicted to cause 'homozygous' HCP or harderoporphyria can produce typical HCP in adults and demonstrated that the severity of the phenotype does not correlate with the degree of inactivation by mutation of the coproporphyrinogen oxidase enzyme. </p><p>In 5 of 9 Swedish families with HCP, Wiman et al. (2002) identified heterozygous mutations in the CPO gene. In each of 2 of the families, a novel mutation was identified: ser208 to phe (S208F; 612732.0010) and arg328 to cys (R328C; 612732.0011). In the affected members of the other 3 families, 2 previously reported mutations, R331W (612732.0001) and R447C (612732.0009), were shown to coexist on 1 allele. This was the first report of patients carrying 2 HCP-related mutations on the same allele. </p>
|
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</span>
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<div>
|
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<br />
|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Genotype/Phenotype Correlations</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
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|
|
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|
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<span class="mim-text-font">
|
|
<p>Schmitt et al. (2005) noted that all 5 reported patients (from 3 families) with harderoporphyria had a K404E mutation (612732.0003) in the CPOX gene in homozygosity or compound heterozygosity with a null mutation. Biochemical and expression studies revealed that only a few missense mutations, restricted to 5 amino acids encoded by exon 6 (D400-K404), may accumulate significant amounts of harderoporphyrin. All types of mutations occurring elsewhere throughout the CPOX gene resulted in coproporphyrin accumulation and subsequently typical HCP. They stated that this was the first metabolic disorder in which clinical expression of overt disease depended on the location and type of mutation, resulting either in acute hepatic or in erythropoietic porphyria. </p>
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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>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Connon and Turkington (1968); Hunter et al. (1971); Kohno et al.
|
|
(1993); Lamoril et al. (1998); Lomholt and With (1969); Roberts et
|
|
al. (1977)
|
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
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</span>
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</h4>
|
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<div>
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
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Allen, K. R., Whatley, S. D., Degg, T. J., Barth, J. H.
|
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<strong>Hereditary coproporphyria: comparison of molecular and biochemical investigations in a large family.</strong>
|
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J. Inherit. Metab. Dis. 28: 779-785, 2005.
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[PubMed: 16151909]
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[Full Text: https://doi.org/10.1007/s10545-005-0092-z]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Andrews, J., Erdjument, H., Nicholson, D. C.
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<strong>Hereditary coproporphyria: incidence in a large English family.</strong>
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J. Med. Genet. 21: 341-349, 1984.
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[PubMed: 6502649]
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[Full Text: https://doi.org/10.1136/jmg.21.5.341]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Barnes, H. D., Whittaker, N.
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<strong>Hereditary coproporphyria with acute intermittent manifestations.</strong>
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Brit. Med. J. 2: 1102-1104, 1965.
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[PubMed: 5838412]
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[Full Text: https://doi.org/10.1136/bmj.2.5470.1102]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Barohn, R. J., Sanchez, J. A., Anderson, K. E.
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<strong>Acute peripheral neuropathy due to hereditary coproporphyria.</strong>
|
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Muscle Nerve 17: 793-799, 1994.
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[PubMed: 8008008]
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[Full Text: https://doi.org/10.1002/mus.880170715]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Berger, H., Goldberg, A.
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<strong>Hereditary coproporphyria.</strong>
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Brit. Med. J. 2: 85-88, 1955.
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[PubMed: 14378650]
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[Full Text: https://doi.org/10.1136/bmj.2.4931.85]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Brodie, M. J., Thompson, G. G., Moore, M. R., Beattie, A. D., Goldberg, A.
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<strong>Hereditary coproporphyria: demonstration of the abnormalities in haem biosynthesis in peripheral blood.</strong>
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Quart. J. Med. 46: 229-241, 1977.
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[PubMed: 866576]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Connon, J. J., Turkington, V.
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<strong>Hereditary coproporphyria.</strong>
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Lancet 292: 263-264, 1968. Note: Originally Volume II.
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[PubMed: 4173691]
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[Full Text: https://doi.org/10.1016/s0140-6736(68)92359-3]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Cripps, D. J., Peters, H. A.
|
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<strong>Stool porphyrins in acute intermittent and hereditary coproporphyria: adverse effects of tranquilizers.</strong>
|
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Arch. Neurol. 23: 80-84, 1970.
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[PubMed: 4393048]
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[Full Text: https://doi.org/10.1001/archneur.1970.00480250084012]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Elder, G. H., Evans, J. O., Thomas, N., Cox, R., Brodie, M. J., Moore, M. R., Goldberg, A., Nicholson, D. C.
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<strong>The primary enzyme defect in hereditary coproporphyria.</strong>
|
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Lancet 308: 1217-1219, 1976. Note: Originally Volume II.
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[PubMed: 63041]
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[Full Text: https://doi.org/10.1016/s0140-6736(76)91143-0]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Goldberg, A., Rimington, C., Lochhead, A. C.
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<strong>Hereditary coproporphyria.</strong>
|
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Lancet 289: 632-636, 1967. Note: Originally Volume I.
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[PubMed: 4163920]
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[Full Text: https://doi.org/10.1016/s0140-6736(67)92538-x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Grandchamp, B., Phung, N., Nordmann, Y.
|
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<strong>Homozygous case of hereditary coproporphyria. (Letter)</strong>
|
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Lancet 310: 1348-1349, 1977. Note: Originally Volume II.
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[PubMed: 74745]
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[Full Text: https://doi.org/10.1016/s0140-6736(77)90386-5]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Gross, U., Puy, H., Meissauer, U., Lamoril, J., Deybach, J. C., Doss, M., Nordmann, Y., Doss, M. O.
|
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<strong>A molecular, enzymatic and clinical study in a family with hereditary coproporphyria.</strong>
|
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J. Inherit. Metab. Dis. 25: 279-286, 2002.
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[PubMed: 12227458]
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[Full Text: https://doi.org/10.1023/a:1016598207397]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Haeger-Aronsen, B., Stathers, G., Swahn, G.
|
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<strong>Hereditary coproporphyria: study of a Swedish family.</strong>
|
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Ann. Intern. Med. 69: 221-227, 1968.
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[PubMed: 5667765]
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[Full Text: https://doi.org/10.7326/0003-4819-69-2-221]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Hasanoglu, A., Balwani, M., Kasapkara, C. S., Ezgu, F. S., Okur, I., Tumer, L., Cakmak, A., Nazarenko, I., Yu, C., Clavero, S., Bishop, D. F., Desnick, R. J.
|
|
<strong>Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.</strong>
|
|
J. Inherit. Metab. Dis. 34: 225-231, 2011.
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[PubMed: 21103937]
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[Full Text: https://doi.org/10.1007/s10545-010-9237-9]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Hunter, J. A. A., Khan, S. A., Hope, E., Beattie, A. D., Beveridge, G. W., Smith, A. W. M., Goldberg, A.
|
|
<strong>Hereditary coproporphyria. Photosensitivity, jaundice and neuropsychiatric manifestations associated with pregnancy.</strong>
|
|
Brit. J. Derm. 84: 301-310, 1971.
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[PubMed: 5575195]
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[Full Text: https://doi.org/10.1111/j.1365-2133.1971.tb14223.x]
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</p>
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</li>
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<strong>Hereditary coproporphyria presenting with photosensitivity induced by the contraceptive pill.</strong>
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Schmitt, C., Gouya, L., Malonova, E., Lamoril, J., Camadro, J.-M., Flamme, M., Rose, C., Lyoumi, S., Da Silva, V., Boileau, C., Grandchamp, B., Beaumont, C., Deybach, J.-C., Puy, H.
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<strong>Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.</strong>
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