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Entry
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- #278750 - XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV
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- OMIM
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<p>
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<span class="h4">#278750</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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<a href="/clinicalSynopsis/278750"><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="#diagnosis">Diagnosis</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</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 style="display: table-cell;">External Links</div>
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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 class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=XERODERMA PIGMENTOSUM, VARIANT TYPE" 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=12020&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/NBK1397/" 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/7572" 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=278750[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=90342" 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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<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:0110847" 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/278750" 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><a href="https://wormbase.org/resources/disease/DOID:0110847" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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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-cell;">Cell Lines</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:278750" 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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<a id="title" class="mim-anchor"></a>
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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>ORPHA:</strong> 90342<br />
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<strong>DO:</strong> 0110847<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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278750
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</span>
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</span>
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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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XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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XERODERMA PIGMENTOSUM WITH NORMAL DNA REPAIR RATES<br />
|
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PHOTOSENSITIVITY WITH DEFECTIVE DNA SYNTHESIS
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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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<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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Location
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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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</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/6/530?start=-3&limit=10&highlight=530">
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6p21.1
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Xeroderma pigmentosum, variant type
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/278750"> 278750 </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 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">
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POLH
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/603968"> 603968 </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 ">
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<a href="/clinicalSynopsis/278750" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<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')">
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<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">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/278750" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/278750" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<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 />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> Skin </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Skin 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 /> - Early onset skin cancer (basal cell, squamous cell and malignant melanoma) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749216&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749216</a>]</span><br /> - Early freckle-like lesions in exposed areas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749217&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749217</a>]</span><br /> - Poikiloderma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/402685001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">402685001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70114006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70114006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392777&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392777</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001029" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001029</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001029" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001029</a>]</span><br /> - Increased/decreased skin pigment <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231001&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231001</a>]</span><br /> - Skin atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400190005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400190005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L90.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L90.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004334" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004334</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004334" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004334</a>]</span><br /> - Telangiectasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247479008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247479008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/112641009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">112641009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0039446&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039446</a>, <a href="https://bioportal.bioontology.org/search?q=C5848131&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848131</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001009</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0034697" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034697</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001009</a>]</span><br /> - Actinic keratoses <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/856006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">856006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/201101007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">201101007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L57.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L57.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/702.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">702.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022602&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022602</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025127" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025127</a>]</span><br /> - Angiomas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1959588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1959588</a>]</span><br /> - Keratoacanthomas <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/417264005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">417264005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254662007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254662007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031525" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031525</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Eyes </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Photophobia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409668002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409668002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246622003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246622003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.14" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.14</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000613" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000613</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000613" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000613</a>]</span><br /> - Conjunctivitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9826008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9826008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H10</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H10.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H10.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/372.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">372.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009763&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009763</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000509" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000509</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000509" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000509</a>]</span><br /> - Keratitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5888003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5888003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H16.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H16.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H16" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H16</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/370.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">370.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/370" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">370</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022568&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022568</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000491" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000491</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000491" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000491</a>]</span><br /> - Ectropion <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62909004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62909004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/127559009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">127559009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.109" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.109</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/374.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013592&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013592</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000656" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000656</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000656" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000656</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=32265f82e79debdf8a9f895c9d36e22a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Ectropion-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=32265f82e79debdf8a9f895c9d36e22a" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> - Entropion <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33168009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33168009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014390&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014390</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000621" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000621</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000621" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000621</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=939ef18339762126d658aed8271bac93" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Entropion-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=939ef18339762126d658aed8271bac93" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
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- No growth retardation, microcephaly, congenital malformations or other abnormalities<br />
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- Normal DNA repair after ultraviolet radiation<br /> - Defect in recovery of post-UV DNA synthesis<br /> - damage <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37782003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37782003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2681922&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2681922</a>, <a href="https://bioportal.bioontology.org/search?q=C0010957&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010957</a>, <a href="https://bioportal.bioontology.org/search?q=C1883709&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1883709</a>]</span><br />
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- Autosomal recessive <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 />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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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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<p>A number sign (#) is used with this entry because of evidence that the variant form of xeroderma pigmentosum (XPV) is caused by homozygous or compound heterozygous mutation in the DNA polymerase eta gene (POLH; <a href="/entry/603968">603968</a>) on chromosome 6p21.</p>
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<p>Xeroderma pigmentosum is an autosomal recessive disorder characterized by increased sensitivity to sunlight and defects in DNA repair. For a general overview of the disorder, see XPA (<a href="/entry/278700">278700</a>).</p><p>Some patients with xeroderma pigmentosum have been found to have normal DNA excision repair, but defective postreplication repair (<a href="#8" class="mim-tip-reference" title="Lehmann, A. R., Kirk-Bell, S., Arlett, C. F., Paterson, M. C., Lohman, P. H. M., De Weerd-Kastelein, E. A., Bootsma, D. <strong>Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiation.</strong> Proc. Nat. Acad. Sci. 72: 219-223, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1054497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1054497</a>] [<a href="https://doi.org/10.1073/pnas.72.1.219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1054497">Lehmann et al., 1975</a>). This XP 'variant' class is characterized by a defect in conversion of newly synthesized DNA from low to high molecular weight after UV irradiation (<a href="#9" class="mim-tip-reference" title="Masutani, C., Kusumoto, R., Yamada, A., Dohmae, N., Yokoi, M., Yuasa, M., Araki, M., Iwai, S., Takio, K., Hanaoka, F. <strong>The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta.</strong> Nature 399: 700-704, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10385124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10385124</a>] [<a href="https://doi.org/10.1038/21447" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10385124">Masutani et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10385124+1054497" 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>So-called 'pigmentary xerodermoid' is apparently identical to the XP variant, which is characterized by loss of a gene product that permits normal cells to replicate DNA without interruption at UV-damaged sites (<a href="#1" class="mim-tip-reference" title="Cleaver, J. E., Arutyunyan, R. M., Sarkisian, T., Kaufmann, W. K., Greene, A. E., Coriell, L. <strong>Similar defects in DNA repair and replication in the pigmented xerodermoid and the xeroderma pigmentosum variants.</strong> Carcinogenesis 1: 647-655, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11272118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11272118</a>] [<a href="https://doi.org/10.1093/carcin/1.8.647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11272118">Cleaver et al., 1980</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11272118" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p><a href="#4" class="mim-tip-reference" title="Fujiwara, Y., Ichihashi, M., Kano, Y., Goto, K., Shimizu, K. <strong>A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation.</strong> J. Invest. Derm. 77: 256-263, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7264357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7264357</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12482447" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7264357">Fujiwara et al. (1981)</a> reported studies of cultured cells from an 8-year-old boy, the son of first-cousin parents, who, they suggested, had a 'new' form of photodermatosis with a defect in the recovery of post-UV DNA synthesis. He had sun sensitivity, but no growth retardation, microcephaly, congenital malformations, or other abnormalities. Cells derived from the patient showed normal nucleotide excision repair after UV irradiation, but defective recovery of DNA synthesis. The biochemical findings distinguished this XP variant from the 7 known XP complementation groups, which show defects in nucleotide excision repair. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7264357" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Itoh, T., Ono, T., Yamaizumi, M. <strong>A simple method for diagnosing xeroderma pigmentosum variant.</strong> J. Invest. Derm. 107: 349-353, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8751969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8751969</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12363303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8751969">Itoh et al. (1996)</a> reported a method for the diagnosis of XPV that utilized the measurement of 3 cellular markers of DNA repair by autoradiography: unscheduled DNA synthesis (UDS), recovery of RNA synthesis (RRS), and recovery of replicative DNA synthesis (RDS) after UV irradiation. Fibroblasts from XPV patients exhibited normal UDS and RRS but diminished RDS, which was exacerbated by exposure to caffeine. <a href="#5" class="mim-tip-reference" title="Itoh, T., Linn, S., Kamide, R., Tokushige, H., Katori, N., Hosaka, Y., Yamaizumi, M. <strong>Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation.</strong> J. Invest. Derm. 115: 981-985, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11121129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11121129</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2000.00154.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11121129">Itoh et al. (2000)</a> used this method to characterize cells of 2 XPV patients and their heterozygous parents. Cells from heterozygous parents showed normal levels of UDS, RRS, and RDS, but RDS was reduced in the presence of 1 mM caffeine (53 +/- 8% relative to the normal control). Furthermore, the cells showed normal UV survival without caffeine, but slightly reduced UV survival with 1 mM caffeine present. These results suggest that xeroderma pigmentosum variant heterozygotes can be identified by their sensitivity to ultraviolet irradiation in the presence of nontoxic levels of caffeine. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11121129+8751969" 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>Despite having the clinical characteristics of XP, including increased frequency of skin cancer, cells from patients with variant XP are only slightly more UV-sensitive than normal cells, but are significantly more sensitive to its mutagenic effect. <a href="#11" class="mim-tip-reference" title="Wang, Y.-C., Maher, V. M., McCormick, J. J. <strong>Xeroderma pigmentosum variant cells are less likely than normal cells to incorporate dAMP opposite photoproducts during replication of UV-irradiated plasmids.</strong> Proc. Nat. Acad. Sci. 88: 7810-7814, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1652764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1652764</a>] [<a href="https://doi.org/10.1073/pnas.88.17.7810" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1652764">Wang et al. (1991)</a> transfected an XP variant cell line with a UV-irradiated shuttle vector carrying a gene as a target for mutation, allowed replication of the plasmid, and determined the frequency and spectrum of mutations induced. Mutants in XPV cells increased linearly with dose with a slope 5 times steeper than that seen with normal cells. Most of the mutants contained base substitutions and substitutions involving a dipyrimidine; 28% of the mutations involved AT basepairs as compared to 11% in normal cells. The findings suggested that XPV cells were less likely to incorporate dAMP opposite thymidine bases involved in UV photoproducts (TT dimers) during DNA replication, which would contribute to hypermutability with UV radiation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1652764" 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>DNA polymerase eta (POLH; <a href="/entry/603968">603968</a>) performs translesion synthesis past UV photoproducts and is deficient in cancer-prone XPV syndrome. The slight sensitivity of XPV cells to UV is dramatically enhanced by low concentrations of caffeine. Using DNA combing, <a href="#3" class="mim-tip-reference" title="Despras, E., Daboussi, F., Hyrien, O., Marheineke, K., Kannouche, P. L. <strong>ATR/Chk1 pathway is essential for resumption of DNA synthesis and cell survival in UV-irradiated XP variant cells.</strong> Hum. Molec. Genet. 19: 1690-1701, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20123862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20123862</a>] [<a href="https://doi.org/10.1093/hmg/ddq046" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20123862">Despras et al. (2010)</a> showed that translesion synthesis defect led to a strong reduction in the number of active replication forks and a high proportion of stalled forks in human cells. Extensive regions of single-strand DNA were formed during replication in irradiated XPV cells, leading to an overactivation of ATR/CHK1 (<a href="/entry/601215">601215</a>/<a href="/entry/603078">603078</a>) pathway after low UVC doses. Addition of a low concentration of caffeine post-irradiation significantly decreased CHK1 activation and abrogated DNA synthesis in XPV cells. While inhibition of CHK1 activity by 7-hydroxystaurosporine (UCN-01) prevented UVC-induced S-phase delay in wildtype cells, it aggravated replication defect in XPV cells by increasing fork stalling. Consequently, UCN-01 sensitized XPV cells to UVC as caffeine did. The authors concluded that POLH acts at stalled forks to resume their progression, preventing the requirement for efficient replication checkpoint after low UVC doses. In the absence of POLH, CHK1 kinase becomes essential for replication resumption by alternative pathways, via fork stabilization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20123862" 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="#9" class="mim-tip-reference" title="Masutani, C., Kusumoto, R., Yamada, A., Dohmae, N., Yokoi, M., Yuasa, M., Araki, M., Iwai, S., Takio, K., Hanaoka, F. <strong>The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta.</strong> Nature 399: 700-704, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10385124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10385124</a>] [<a href="https://doi.org/10.1038/21447" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10385124">Masutani et al. (1999)</a> and <a href="#7" class="mim-tip-reference" title="Johnson, R. E., Kondratick, C. M., Prakash, S., Prakash, L. <strong>hRAD30 mutations in the variant form of xeroderma pigmentosum.</strong> Science 285: 263-265, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10398605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10398605</a>] [<a href="https://doi.org/10.1126/science.285.5425.263" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10398605">Johnson et al. (1999)</a> confirmed autosomal recessive inheritance of the variant type of xeroderma pigmentosa. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10398605+10385124" 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="#9" class="mim-tip-reference" title="Masutani, C., Kusumoto, R., Yamada, A., Dohmae, N., Yokoi, M., Yuasa, M., Araki, M., Iwai, S., Takio, K., Hanaoka, F. <strong>The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta.</strong> Nature 399: 700-704, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10385124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10385124</a>] [<a href="https://doi.org/10.1038/21447" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10385124">Masutani et al. (1999)</a> identified the POLH gene and determined that it is the human homolog of yeast Rad30. The authors identified homozygous and compound heterozygous mutations in the POLH gene (<a href="/entry/603968#0001">603968.0001</a>-<a href="/entry/603968#0005">603968.0005</a>) in cell lines derived from patients with XPV. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10385124" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Johnson, R. E., Kondratick, C. M., Prakash, S., Prakash, L. <strong>hRAD30 mutations in the variant form of xeroderma pigmentosum.</strong> Science 285: 263-265, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10398605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10398605</a>] [<a href="https://doi.org/10.1126/science.285.5425.263" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10398605">Johnson et al. (1999)</a> independently cloned the human homolog of S. cerevisiae Rad30 and identified protein truncation mutations (<a href="/entry/603968#0006">603968.0006</a>-<a href="/entry/603968#0011">603968.0011</a>) in patients with XPV. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10398605" 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="#Cleaver1972" class="mim-tip-reference" title="Cleaver, J. E. <strong>Xeroderma pigmentosum: variants with normal DNA repair and normal sensitivity to ultraviolet light.</strong> J. Invest. Derm. 58: 124-128, 1972.">Cleaver (1972)</a>; <a href="#Robbins1974" class="mim-tip-reference" title="Robbins, J. H., Kraemer, K. H., Lutzner, M. A., Festoff, B. W., Coon, H. G. <strong>Xeroderma pigmentosum: an inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair.</strong> Ann. Intern. Med. 80: 221-248, 1974.">Robbins et al. (1974)</a>
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Cleaver, J. E., Arutyunyan, R. M., Sarkisian, T., Kaufmann, W. K., Greene, A. E., Coriell, L.
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<strong>Similar defects in DNA repair and replication in the pigmented xerodermoid and the xeroderma pigmentosum variants.</strong>
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Carcinogenesis 1: 647-655, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11272118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11272118</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11272118" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Xeroderma pigmentosum: variants with normal DNA repair and normal sensitivity to ultraviolet light.</strong>
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J. Invest. Derm. 58: 124-128, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5013606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5013606</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5013606" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Despras, E., Daboussi, F., Hyrien, O., Marheineke, K., Kannouche, P. L.
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<strong>ATR/Chk1 pathway is essential for resumption of DNA synthesis and cell survival in UV-irradiated XP variant cells.</strong>
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Hum. Molec. Genet. 19: 1690-1701, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20123862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20123862</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20123862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Fujiwara, Y., Ichihashi, M., Kano, Y., Goto, K., Shimizu, K.
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<strong>A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation.</strong>
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J. Invest. Derm. 77: 256-263, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7264357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7264357</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7264357" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Itoh, T., Linn, S., Kamide, R., Tokushige, H., Katori, N., Hosaka, Y., Yamaizumi, M.
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<strong>Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation.</strong>
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J. Invest. Derm. 115: 981-985, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11121129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11121129</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11121129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Itoh, T., Ono, T., Yamaizumi, M.
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<strong>A simple method for diagnosing xeroderma pigmentosum variant.</strong>
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J. Invest. Derm. 107: 349-353, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8751969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8751969</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8751969" 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/10.1111/1523-1747.ep12363303" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Johnson1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Johnson, R. E., Kondratick, C. M., Prakash, S., Prakash, L.
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<strong>hRAD30 mutations in the variant form of xeroderma pigmentosum.</strong>
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Science 285: 263-265, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10398605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10398605</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10398605" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.285.5425.263" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Lehmann1975" class="mim-anchor"></a>
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<div class="">
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Lehmann, A. R., Kirk-Bell, S., Arlett, C. F., Paterson, M. C., Lohman, P. H. M., De Weerd-Kastelein, E. A., Bootsma, D.
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<strong>Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiation.</strong>
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Proc. Nat. Acad. Sci. 72: 219-223, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1054497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1054497</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1054497" 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/10.1073/pnas.72.1.219" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="Masutani1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Masutani, C., Kusumoto, R., Yamada, A., Dohmae, N., Yokoi, M., Yuasa, M., Araki, M., Iwai, S., Takio, K., Hanaoka, F.
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<strong>The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta.</strong>
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Nature 399: 700-704, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10385124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10385124</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10385124" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/21447" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Robbins1974" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Robbins, J. H., Kraemer, K. H., Lutzner, M. A., Festoff, B. W., Coon, H. G.
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<strong>Xeroderma pigmentosum: an inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair.</strong>
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Ann. Intern. Med. 80: 221-248, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4811796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4811796</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4811796" 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/10.7326/0003-4819-80-2-221" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Wang1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, Y.-C., Maher, V. M., McCormick, J. J.
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<strong>Xeroderma pigmentosum variant cells are less likely than normal cells to incorporate dAMP opposite photoproducts during replication of UV-irradiated plasmids.</strong>
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Proc. Nat. Acad. Sci. 88: 7810-7814, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1652764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1652764</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1652764" 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/10.1073/pnas.88.17.7810" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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George E. Tiller - updated : 12/1/2011
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<span class="mim-text-font">
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Cassandra L. Kniffin - reorganized : 7/11/2007<br>Gary A. Bellus - updated : 4/3/2001<br>Ada Hamosh - updated : 7/8/1999<br>Ada Hamosh - updated : 7/6/1999
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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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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carol : 11/26/2024
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<span class="mim-text-font">
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carol : 11/22/2024<br>alopez : 12/05/2011<br>terry : 12/1/2011<br>carol : 7/11/2007<br>ckniffin : 7/6/2007<br>cwells : 4/13/2001<br>cwells : 4/10/2001<br>cwells : 4/3/2001<br>carol : 7/12/1999<br>carol : 7/8/1999<br>carol : 7/8/1999<br>carol : 7/8/1999<br>terry : 7/7/1999<br>terry : 7/6/1999<br>mimadm : 3/12/1994<br>supermim : 3/17/1992<br>carol : 9/27/1991<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988
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<span class="mim-font">
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<strong>#</strong> 278750
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XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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XERODERMA PIGMENTOSUM WITH NORMAL DNA REPAIR RATES<br />
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PHOTOSENSITIVITY WITH DEFECTIVE DNA SYNTHESIS
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<strong>ORPHA:</strong> 90342;
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<strong>DO:</strong> 0110847;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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6p21.1
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<span class="mim-font">
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Xeroderma pigmentosum, variant type
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<span class="mim-font">
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278750
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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POLH
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<span class="mim-font">
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603968
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that the variant form of xeroderma pigmentosum (XPV) is caused by homozygous or compound heterozygous mutation in the DNA polymerase eta gene (POLH; 603968) on chromosome 6p21.</p>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Xeroderma pigmentosum is an autosomal recessive disorder characterized by increased sensitivity to sunlight and defects in DNA repair. For a general overview of the disorder, see XPA (278700).</p><p>Some patients with xeroderma pigmentosum have been found to have normal DNA excision repair, but defective postreplication repair (Lehmann et al., 1975). This XP 'variant' class is characterized by a defect in conversion of newly synthesized DNA from low to high molecular weight after UV irradiation (Masutani et al., 1999). </p><p>So-called 'pigmentary xerodermoid' is apparently identical to the XP variant, which is characterized by loss of a gene product that permits normal cells to replicate DNA without interruption at UV-damaged sites (Cleaver et al., 1980). </p>
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<strong>Clinical Features</strong>
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<p>Fujiwara et al. (1981) reported studies of cultured cells from an 8-year-old boy, the son of first-cousin parents, who, they suggested, had a 'new' form of photodermatosis with a defect in the recovery of post-UV DNA synthesis. He had sun sensitivity, but no growth retardation, microcephaly, congenital malformations, or other abnormalities. Cells derived from the patient showed normal nucleotide excision repair after UV irradiation, but defective recovery of DNA synthesis. The biochemical findings distinguished this XP variant from the 7 known XP complementation groups, which show defects in nucleotide excision repair. </p>
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<h4>
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<strong>Diagnosis</strong>
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<p>Itoh et al. (1996) reported a method for the diagnosis of XPV that utilized the measurement of 3 cellular markers of DNA repair by autoradiography: unscheduled DNA synthesis (UDS), recovery of RNA synthesis (RRS), and recovery of replicative DNA synthesis (RDS) after UV irradiation. Fibroblasts from XPV patients exhibited normal UDS and RRS but diminished RDS, which was exacerbated by exposure to caffeine. Itoh et al. (2000) used this method to characterize cells of 2 XPV patients and their heterozygous parents. Cells from heterozygous parents showed normal levels of UDS, RRS, and RDS, but RDS was reduced in the presence of 1 mM caffeine (53 +/- 8% relative to the normal control). Furthermore, the cells showed normal UV survival without caffeine, but slightly reduced UV survival with 1 mM caffeine present. These results suggest that xeroderma pigmentosum variant heterozygotes can be identified by their sensitivity to ultraviolet irradiation in the presence of nontoxic levels of caffeine. </p>
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<h4>
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<span class="mim-font">
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<strong>Pathogenesis</strong>
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<span class="mim-text-font">
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<p>Despite having the clinical characteristics of XP, including increased frequency of skin cancer, cells from patients with variant XP are only slightly more UV-sensitive than normal cells, but are significantly more sensitive to its mutagenic effect. Wang et al. (1991) transfected an XP variant cell line with a UV-irradiated shuttle vector carrying a gene as a target for mutation, allowed replication of the plasmid, and determined the frequency and spectrum of mutations induced. Mutants in XPV cells increased linearly with dose with a slope 5 times steeper than that seen with normal cells. Most of the mutants contained base substitutions and substitutions involving a dipyrimidine; 28% of the mutations involved AT basepairs as compared to 11% in normal cells. The findings suggested that XPV cells were less likely to incorporate dAMP opposite thymidine bases involved in UV photoproducts (TT dimers) during DNA replication, which would contribute to hypermutability with UV radiation. </p><p>DNA polymerase eta (POLH; 603968) performs translesion synthesis past UV photoproducts and is deficient in cancer-prone XPV syndrome. The slight sensitivity of XPV cells to UV is dramatically enhanced by low concentrations of caffeine. Using DNA combing, Despras et al. (2010) showed that translesion synthesis defect led to a strong reduction in the number of active replication forks and a high proportion of stalled forks in human cells. Extensive regions of single-strand DNA were formed during replication in irradiated XPV cells, leading to an overactivation of ATR/CHK1 (601215/603078) pathway after low UVC doses. Addition of a low concentration of caffeine post-irradiation significantly decreased CHK1 activation and abrogated DNA synthesis in XPV cells. While inhibition of CHK1 activity by 7-hydroxystaurosporine (UCN-01) prevented UVC-induced S-phase delay in wildtype cells, it aggravated replication defect in XPV cells by increasing fork stalling. Consequently, UCN-01 sensitized XPV cells to UVC as caffeine did. The authors concluded that POLH acts at stalled forks to resume their progression, preventing the requirement for efficient replication checkpoint after low UVC doses. In the absence of POLH, CHK1 kinase becomes essential for replication resumption by alternative pathways, via fork stabilization. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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<p>Masutani et al. (1999) and Johnson et al. (1999) confirmed autosomal recessive inheritance of the variant type of xeroderma pigmentosa. </p>
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<strong>Molecular Genetics</strong>
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<p>Masutani et al. (1999) identified the POLH gene and determined that it is the human homolog of yeast Rad30. The authors identified homozygous and compound heterozygous mutations in the POLH gene (603968.0001-603968.0005) in cell lines derived from patients with XPV. </p><p>Johnson et al. (1999) independently cloned the human homolog of S. cerevisiae Rad30 and identified protein truncation mutations (603968.0006-603968.0011) in patients with XPV. </p>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Cleaver (1972); Robbins et al. (1974)
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p class="mim-text-font">
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Cleaver, J. E., Arutyunyan, R. M., Sarkisian, T., Kaufmann, W. K., Greene, A. E., Coriell, L.
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<strong>Similar defects in DNA repair and replication in the pigmented xerodermoid and the xeroderma pigmentosum variants.</strong>
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Carcinogenesis 1: 647-655, 1980.
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[PubMed: 11272118]
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[Full Text: https://doi.org/10.1093/carcin/1.8.647]
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</p>
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<li>
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<p class="mim-text-font">
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Cleaver, J. E.
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<strong>Xeroderma pigmentosum: variants with normal DNA repair and normal sensitivity to ultraviolet light.</strong>
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J. Invest. Derm. 58: 124-128, 1972.
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[PubMed: 5013606]
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[Full Text: https://doi.org/10.1111/1523-1747.ep12538913]
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Despras, E., Daboussi, F., Hyrien, O., Marheineke, K., Kannouche, P. L.
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<strong>ATR/Chk1 pathway is essential for resumption of DNA synthesis and cell survival in UV-irradiated XP variant cells.</strong>
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Hum. Molec. Genet. 19: 1690-1701, 2010.
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[PubMed: 20123862]
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[Full Text: https://doi.org/10.1093/hmg/ddq046]
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<p class="mim-text-font">
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Fujiwara, Y., Ichihashi, M., Kano, Y., Goto, K., Shimizu, K.
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<strong>A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation.</strong>
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J. Invest. Derm. 77: 256-263, 1981.
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[PubMed: 7264357]
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[Full Text: https://doi.org/10.1111/1523-1747.ep12482447]
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Itoh, T., Linn, S., Kamide, R., Tokushige, H., Katori, N., Hosaka, Y., Yamaizumi, M.
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<strong>Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation.</strong>
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J. Invest. Derm. 115: 981-985, 2000.
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[PubMed: 11121129]
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[Full Text: https://doi.org/10.1046/j.1523-1747.2000.00154.x]
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</p>
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<li>
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<p class="mim-text-font">
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Itoh, T., Ono, T., Yamaizumi, M.
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<strong>A simple method for diagnosing xeroderma pigmentosum variant.</strong>
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J. Invest. Derm. 107: 349-353, 1996.
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[PubMed: 8751969]
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[Full Text: https://doi.org/10.1111/1523-1747.ep12363303]
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<p class="mim-text-font">
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Johnson, R. E., Kondratick, C. M., Prakash, S., Prakash, L.
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<strong>hRAD30 mutations in the variant form of xeroderma pigmentosum.</strong>
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Science 285: 263-265, 1999.
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[PubMed: 10398605]
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[Full Text: https://doi.org/10.1126/science.285.5425.263]
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Lehmann, A. R., Kirk-Bell, S., Arlett, C. F., Paterson, M. C., Lohman, P. H. M., De Weerd-Kastelein, E. A., Bootsma, D.
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<strong>Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiation.</strong>
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Proc. Nat. Acad. Sci. 72: 219-223, 1975.
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[PubMed: 1054497]
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[Full Text: https://doi.org/10.1073/pnas.72.1.219]
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<li>
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<p class="mim-text-font">
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Masutani, C., Kusumoto, R., Yamada, A., Dohmae, N., Yokoi, M., Yuasa, M., Araki, M., Iwai, S., Takio, K., Hanaoka, F.
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<strong>The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta.</strong>
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Nature 399: 700-704, 1999.
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[PubMed: 10385124]
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[Full Text: https://doi.org/10.1038/21447]
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Robbins, J. H., Kraemer, K. H., Lutzner, M. A., Festoff, B. W., Coon, H. G.
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<strong>Xeroderma pigmentosum: an inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair.</strong>
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Ann. Intern. Med. 80: 221-248, 1974.
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[PubMed: 4811796]
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[Full Text: https://doi.org/10.7326/0003-4819-80-2-221]
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Wang, Y.-C., Maher, V. M., McCormick, J. J.
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<strong>Xeroderma pigmentosum variant cells are less likely than normal cells to incorporate dAMP opposite photoproducts during replication of UV-irradiated plasmids.</strong>
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Proc. Nat. Acad. Sci. 88: 7810-7814, 1991.
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[PubMed: 1652764]
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[Full Text: https://doi.org/10.1073/pnas.88.17.7810]
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George E. Tiller - updated : 12/1/2011<br>Cassandra L. Kniffin - reorganized : 7/11/2007<br>Gary A. Bellus - updated : 4/3/2001<br>Ada Hamosh - updated : 7/8/1999<br>Ada Hamosh - updated : 7/6/1999
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Victor A. McKusick : 6/4/1986
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carol : 11/26/2024<br>carol : 11/22/2024<br>alopez : 12/05/2011<br>terry : 12/1/2011<br>carol : 7/11/2007<br>ckniffin : 7/6/2007<br>cwells : 4/13/2001<br>cwells : 4/10/2001<br>cwells : 4/3/2001<br>carol : 7/12/1999<br>carol : 7/8/1999<br>carol : 7/8/1999<br>carol : 7/8/1999<br>terry : 7/7/1999<br>terry : 7/6/1999<br>mimadm : 3/12/1994<br>supermim : 3/17/1992<br>carol : 9/27/1991<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988
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