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Entry
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- #278700 - XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
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- OMIM
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<p>
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<span class="h4">#278700</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/278700"><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="#clinicalManagement">Clinical Management</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="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#history">History</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A" 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=3253&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/7566" 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=278700[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=910" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/d8e0334c-a06b-45b0-8dce-b333c2c8dd78/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110843" 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/278700" 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:0110843" 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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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:278700" 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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</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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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 43477006<br />
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<strong>ORPHA:</strong> 910<br />
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<strong>DO:</strong> 0110843<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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278700
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
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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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XP, GROUP A<br />
|
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XERODERMA PIGMENTOSUM I; XP1
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/9/343?start=-3&limit=10&highlight=343">
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9q22.33
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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, group 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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<a href="/entry/278700"> 278700 </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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|
|
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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">
|
|
XPA
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/611153"> 611153 </a>
|
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</span>
|
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</td>
|
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</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/278700" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<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">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/278700" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/278700" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Skin </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 />
|
|
|
|
</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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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> Neuro </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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- Mental deterioration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001268</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001268</a>]</span><br /> - Low intelligence <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247578003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247578003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423903&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423903</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> - Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" 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 /> - Sensorineural deafness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br /> - Hyporeflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/835279003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">835279003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405946002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405946002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700078</a>, <a href="https://bioportal.bioontology.org/search?q=C0151888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151888</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>]</span><br /> - Spasticity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/221360009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">221360009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397790002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397790002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026838</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span><br /> - Ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20262006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20262006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39384006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39384006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R27.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004134</a>, <a href="https://bioportal.bioontology.org/search?q=C1135207&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1135207</a>, <a href="https://bioportal.bioontology.org/search?q=C0007758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0010867" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010867</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> - Choreoathetosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43105007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43105007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085583&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085583</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001266" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001266</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001266" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001266</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> Misc </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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- Defective DNA repair after ultraviolet radiation damage <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968564&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968564</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003079" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003079</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003079" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003079</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 /> - with at least 4 loci<br />
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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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<p>A number sign (#) is used with this entry because xeroderma pigmentosum complementation group A (XPA) is caused by homozygous or compound heterozygous mutation in the XPA gene (<a href="/entry/611153">611153</a>) on chromosome 9q22.</p>
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<p>Xeroderma pigmentosum (XP) is a genetically heterogeneous autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Some patients develop neurologic symptoms or a more severe clinical phenotype known as de Sanctis-Cacchione syndrome (<a href="/entry/278800">278800</a>) (<a href="#41" class="mim-tip-reference" title="Satokata, I., Tanaka, K., Miura, N., Narita, M., Mimaki, T., Satoh, Y., Kondo, S., Okada, Y. <strong>Three nonsense mutations responsible for group A xeroderma pigmentosum.</strong> Mutat. Res. 273: 193-202, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1372102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1372102</a>] [<a href="https://doi.org/10.1016/0921-8777(92)90080-m" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1372102">Satokata et al., 1992</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1372102" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Xeroderma Pigmentosum</em></strong></p><p>
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See also XPB (<a href="/entry/610651">610651</a>), XPC (<a href="/entry/278720">278720</a>), XPD (<a href="/entry/278730">278730</a>), XPE (<a href="/entry/278740">278740</a>), XPF (<a href="/entry/278760">278760</a>), XPG (<a href="/entry/278780">278780</a>), and variant XP (XPV; <a href="/entry/278750">278750</a>).</p>
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<p>Ruder (cited by <a href="#11" class="mim-tip-reference" title="Cockayne, E. A. <strong>Inherited Abnormalities of the Skin and Its Appendages.</strong> London: Oxford Univ. Press (pub.) 1933."None>Cockayne, 1933</a>) observed the condition in 7 out of 13 sibs.</p><p><a href="#24" class="mim-tip-reference" title="Kanda, T., Oda, M., Yonezawa, M., Tamagawa, K., Isa, F., Hanakago, R., Tsukagoshi, H. <strong>Peripheral neuropathy in xeroderma pigmentosum.</strong> Brain 113: 1025-1044, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2168777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2168777</a>] [<a href="https://doi.org/10.1093/brain/113.4.1025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2168777">Kanda et al. (1990)</a> indicated that most patients with group A XP, the most common form in Japan, show involvement of the central and peripheral nervous systems in addition to cutaneous lesions. The authors detailed the pathologic changes in the peripheral nervous system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2168777" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Bootsma, D., Hoeijmakers, J. H. J. <strong>The genetic basis of xeroderma pigmentosum.</strong> Ann. Genet. 34: 143-150, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1809220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1809220</a>]" pmid="1809220">Bootsma and Hoeijmakers (1991)</a> compared the clinical and biologic characteristics of 7 excision repair-deficient XP complementation groups. They found that XPA and XPC have high relative frequency; XPD and XPF have intermediate frequency, and the other 3 are rare. For each of the 7 types, they tabulated the occurrence of clinical manifestations in 4 areas, skin cancer, neurologic abnormality, symptoms of Cockayne syndrome (see CSA, <a href="/entry/216400">216400</a>), and trichothiodystrophy (<a href="/entry/601675">601675</a>), as well as the levels of unscheduled DNA synthesis after UV exposure and of UV sensitivity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1809220" 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="#39" class="mim-tip-reference" title="Salob, S. P., Webb, D. K. H., Atherton, D. J. <strong>A child with xeroderma pigmentosum and bone marrow failure.</strong> Brit. J. Derm. 126: 372-374, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1571258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1571258</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1992.tb00681.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1571258">Salob et al. (1992)</a> reported a Pakistani girl, the offspring of second cousins, who developed photosensitivity at the age of 2 years; at the age of 9 years, she was found to have typical xeroderma pigmentosum together with bone marrow hypoplasia of a type seen in Fanconi anemia (FA; <a href="/entry/227650">227650</a>). <a href="#39" class="mim-tip-reference" title="Salob, S. P., Webb, D. K. H., Atherton, D. J. <strong>A child with xeroderma pigmentosum and bone marrow failure.</strong> Brit. J. Derm. 126: 372-374, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1571258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1571258</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1992.tb00681.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1571258">Salob et al. (1992)</a> suggested that this was not a chance association but that the bone marrow hypoplasia reflected an increased susceptibility of the patient's hematopoietic stem cells to non-UV mutagens. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1571258" 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="#30" class="mim-tip-reference" title="Kraemer, K. H., Lee, M.-M., Andrews, A. D., Lambert, W. C. <strong>The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer: the xeroderma pigmentosum paradigm.</strong> Arch. Derm. 130: 1018-1021, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8053698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8053698</a>]" pmid="8053698">Kraemer et al. (1994)</a> examined reports of 132 patients with xeroderma pigmentosum. Malignant skin neoplasms were present in 70% of the patients with XP at a median age of 8 years (50 years earlier than in the U.S. white population); 57% of the patients had basal cell or squamous cell carcinoma, and 22% had melanoma. The frequency of melanomas, like the frequency of nonmelanoma skin cancers, anterior eye cancers, and tongue cancers, but unlike that of internal neoplasms, was increased 1,000-fold or more in patients with XP who were younger than 20 years. As in the general population, the anatomic distribution of melanomas was different from that of nonmelanomas in the patients with XP. Data were interpreted as suggesting that DNA repair plays a major role in the prevention of cutaneous cancers in the general population, and that sunlight exposure is responsible for the induction of melanoma as well as nonmelanoma skin cancers in patients with XP, although acting by different mechanisms for the 2 types of skin cancer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8053698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Heterozygotes</em></strong></p><p>
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<a href="#47" class="mim-tip-reference" title="Swift, M., Chase, C. <strong>Cancer in families with xeroderma pigmentosum.</strong> J. Nat. Cancer Inst. 62: 1415-1421, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/286113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">286113</a>]" pmid="286113">Swift and Chase (1979)</a> found that in 31 families of XP patients, significantly more blood relatives than spouse controls had had nonmelanoma skin cancer. These family data supported the hypothesis that heterozygosity for XP genes may predispose persons to skin cancer, particularly in association with substantial exposure to sunlight, which might overwhelm their DNA repair enzymes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=286113" 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>Some aspect of DNA repair mechanisms is deficient in 4 other inherited diseases: ataxia-telangiectasia (AT; <a href="/entry/208900">208900</a>), Fanconi anemia, Bloom syndrome (BLM; <a href="/entry/210900">210900</a>), and Cockayne syndrome. <a href="#49" class="mim-tip-reference" title="Welshimer, K., Swift, M. <strong>Congenital malformations and developmental disabilities in ataxia-telangiectasia, Fanconi anemia, and xeroderma pigmentosum families.</strong> Am. J. Hum. Genet. 34: 781-793, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7124732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7124732</a>]" pmid="7124732">Welshimer and Swift (1982)</a> studied families of homozygotes for these disorders to test the hypothesis that heterozygotes may be predisposed to some of the same congenital malformations and developmental disabilities that are common among homozygotes. Among XP relatives, 11 of 1,100 had unexplained mental retardation, whereas only 3 of 1,439 relatives of FA and AT homozygotes showed mental retardation. Four XP relatives and no FA or AT relatives had microcephaly. Idiopathic scoliosis and vertebral anomalies occurred in excess in AT relatives, while genitourinary and distal limb malformations were found in FA families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7124732" 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="#35" class="mim-tip-reference" title="Parshad, R., Sanford, K. K., Kraemer, K. H., Jones, G. M., Tarone, R. E. <strong>Carrier detection in xeroderma pigmentosum.</strong> J. Clin. Invest. 85: 135-138, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2295692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2295692</a>] [<a href="https://doi.org/10.1172/JCI114403" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2295692">Parshad et al. (1990)</a> identified XP heterozygotes by the finding of elevated frequencies of chromatid breaks and gaps after G2 phase x-irradiation of peripheral blood lymphocytes or skin fibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2295692" 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="#28" class="mim-tip-reference" title="Kraemer, K. H., DiGiovanna, J. J., Moshell, A. N., Tarone, R. E., Peck, G. L. <strong>Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin.</strong> New Eng. J. Med. 318: 1633-1637, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3287161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3287161</a>] [<a href="https://doi.org/10.1056/NEJM198806233182501" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3287161">Kraemer et al. (1988)</a> found that 5 patients with XP had a reduction in the number of skin cancers during treatment with isotretinoin: they had a total of 121 tumors in a 2-year interval before treatment and a total of 25 tumors during 2 years of treatment. After the drug was discontinued, the tumor frequency increased at a mean of 8.5-fold over the frequency during treatment. All patients experienced mucocutaneous toxic effects, however, and abnormalities of triglycerides, liver function, or the skeleton developed in some. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3287161" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Davis, B. E., Koh, H. K., Rohrer, T. E., Gonzalez, E., Cleaver, J. E. <strong>Sunlight avoidance and cancer prevention in xeroderma pigmentosum.</strong> Arch. Derm. 130: 806-808, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8002661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8002661</a>]" pmid="8002661">Davis et al. (1994)</a> reported 3 patients in whom strenuous preventive measures for UV light avoidance and shielding resulted in a lack of the degree of cutaneous damage usually seen in this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8002661" 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="#7" class="mim-tip-reference" title="Cleaver, J. E. <strong>Defective repair replication of DNA in xeroderma pigmentosum.</strong> Nature 218: 652-656, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5655953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5655953</a>] [<a href="https://doi.org/10.1038/218652a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5655953">Cleaver (1968)</a> showed that skin fibroblasts from patients with xeroderma pigmentosum had defective or absent DNA repair in response to ultraviolet radiation damage, whereas normal skin fibroblasts could repair this damage by inserting new bases into DNA. <a href="#20" class="mim-tip-reference" title="Goldstein, S., Lin, C. C. <strong>Survival and DNA repair of somatic cell hybrids after ultraviolet irradiation.</strong> Nature N.B. 239: 142-145, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4512835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4512835</a>] [<a href="https://doi.org/10.1038/newbio239142a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4512835">Goldstein and Lin (1972)</a> showed that XP-hamster somatic cell hybrids had normal DNA repair and survived ultraviolet irradiation, indicating that the normal hamster cell was able to complement the defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5655953+4512835" 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="#38" 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.[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://doi.org/10.7326/0003-4819-80-2-221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4811796">Robbins et al. (1974)</a> noted that 4 XP complementation groups, XPA-XPD, had been found to date, indicating that mutation at any one of at least 4 loci cause defective DNA repair resulting in the clinical phenotype. Although there were no consistent clinical correlations, the groups showed different DNA repair rates: group A less than 2% of normal; group B, 3 to 7% of normal; group C, 10 to 25% of normal; and group D, 25 to 55% of normal. By 1975, 5 forms of XP with deficiency in excision repair had been identified by cell complementation (<a href="#26" class="mim-tip-reference" title="Kraemer, K. H., Coon, H. G., Petinga, R. A., Barrett, S. F., Rahe, A. E., Robbins, J. H. <strong>Genetic heterogeneity in xeroderma pigmentosum: complementation groups and their relationship to DNA repair rates.</strong> Proc. Nat. Acad. Sci. 72: 59-63, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/164028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">164028</a>] [<a href="https://doi.org/10.1073/pnas.72.1.59" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="164028">Kraemer et al., 1975</a>; <a href="#8" class="mim-tip-reference" title="Cleaver, J. E. <strong>Xeroderma pigmentosum: biochemical and genetic characteristics.</strong> Ann. Rev. Genet. 9: 19-38, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1108765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1108765</a>] [<a href="https://doi.org/10.1146/annurev.ge.09.120175.000315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1108765">Cleaver, 1975</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=164028+4811796+1108765" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Andrews, A. D., Barrett, S. F., Robbins, J. H. <strong>Xeroderma pigmentosum neurological abnormalities correlated with colony-forming ability after ultraviolet radiation.</strong> Proc. Nat. Acad. Sci. 75: 1984-1988, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/273925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">273925</a>] [<a href="https://doi.org/10.1073/pnas.75.4.1984" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="273925">Andrews et al. (1978)</a> demonstrated a correlation between the degree of UV sensitivity of cultured fibroblasts, as measured by colony forming ability, and the severity of neurologic manifestations in patients with XP. The authors concluded that DNA repair is required for maintenance of the functional integrity of the nervous system by preventing premature death of neurons. <a href="#46" class="mim-tip-reference" title="Stefanini, M., Keijzer, W., Dalpra, L., Elli, R., Porro, M. N., Nicoletti, B., Nuzzo, F. <strong>Differences in the levels of UV repair and in clinical symptoms in two sibs affected by xeroderma pigmentosum.</strong> Hum. Genet. 54: 177-182, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7390491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7390491</a>] [<a href="https://doi.org/10.1007/BF00278968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7390491">Stefanini et al. (1980)</a> observed a discrepancy in clinical severity and residual enzyme activity in sibs and suggested somatic back-mutation in the milder sib. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7390491+273925" 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="#25" class="mim-tip-reference" title="Keijzer, W., Verkerk, A., Bootsma, D. <strong>Phenotypic correction of the defect in xeroderma pigmentosum cells after fusion with isolated cytoplasts.</strong> Exp. Cell Res. 140: 119-125, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7106197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7106197</a>] [<a href="https://doi.org/10.1016/0014-4827(82)90163-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7106197">Keijzer et al. (1982)</a> observed that cytoplasts from normal human fibroblasts could complement the defect of xeroderma pigmentosum A cells after fusion with UV-irradiated XPA cells. <a href="#15" class="mim-tip-reference" title="de Jonge, A. J., Vermeulen, W., Klein, B., Hoeijmakers, J. H. <strong>Microinjection of human cell extracts corrects xeroderma pigmentosum defect.</strong> EMBO J. 2: 637-641, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6357782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6357782</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1983.tb01477.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6357782">De Jonge et al. (1983)</a> found that microinjection of cell extracts from either human placenta or HeLa cells into XPA cells restored unscheduled DNA synthesis in these cells after UV irradiation and showed normal resistance to UV irradiation. <a href="#50" class="mim-tip-reference" title="Yamaizumi, M., Sugano, T., Asahina, H., Okada, Y., Uchida, T. <strong>Microinjection of partially purified protein factor restores DNA damage specifically in group A of xeroderma pigmentosum cells.</strong> Proc. Nat. Acad. Sci. 83: 1476-1479, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3456596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3456596</a>] [<a href="https://doi.org/10.1073/pnas.83.5.1476" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3456596">Yamaizumi et al. (1986)</a> found that the half-life of the injected factor was 14 hrs in XPA cells with maximal effects exerted 2 hrs after microinjection. The factors were sensitive to protease but not to RNase and had a molecular weight of about 160 and 90 kD by gel filtration. The factor fractions did not work in other XP groups. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3456596+7106197+6357782" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Cleaver, J. E. <strong>It was a very good year for DNA repair.</strong> Cell 76: 1-4, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8287470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8287470</a>] [<a href="https://doi.org/10.1016/0092-8674(94)90165-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8287470">Cleaver (1994)</a> outlined information on the human diseases due to defects in DNA repair, including the mismatch repair system in familial nonpolyposis colorectal cancer (MSH2; <a href="/entry/609309">609309</a>), and provided a highly useful block diagram of the steps involved in major branches of nucleotide excision repair. The initial step involves the DNA-binding proteins XPA and XPE; the latter has 2 subunits. Thereafter, 2 branches, transcription dependent and transcription independent, operate in different regions of the genome to change DNA structure by a helicase action for excision. Some gene products appear unique to these branches; i.e., XPC for transcription independent, CSA (<a href="/entry/609412">609412</a>) and CSB (<a href="/entry/609413">609413</a>) for transcription dependent, whereas others are involved in both (XPB and XPD). The damaged region is cut out in a 29- to 30-nucleotide fragment by the action of 2 excision nucleases: one is a complex of ERCC1 (<a href="/entry/126380">126380</a>) and ERCC4 (<a href="/entry/133520">133520</a>) that can act on single-stranded and duplex-supercoiled DNA; the other, the XPG product, acts on single-stranded DNA. The remaining single-strand template is protected by single-strand binding protein RPA, and a patch is then synthesized by proliferating cell nuclear antigen (PCNA), DNA polymerase delta/epsilon, and ligase. <a href="#10" class="mim-tip-reference" title="Cleaver, J. E. <strong>It was a very good year for DNA repair.</strong> Cell 76: 1-4, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8287470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8287470</a>] [<a href="https://doi.org/10.1016/0092-8674(94)90165-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8287470">Cleaver (1994)</a> noted that the ERCC4, ERCC11, and XPF proteins may be identical, a statement proven by <a href="#44" class="mim-tip-reference" title="Sijbers, A. M., de Laat, W. L., Ariza, R. R., Biggerstaff, M., Wei, Y.-F., Moggs, J. G., Carter, K. C., Shell, B. K., Evans, E., de Jong, M. C., Rademakers, S., de Rooij, J., Jaspers, N. G. J., Hoeijmakers, J. H. J., Wood, R. D. <strong>Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease.</strong> Cell 86: 811-822, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8797827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8797827</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)80155-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8797827">Sijbers et al. (1996)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8797827+8287470" 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>Xeroderma pigmentosum complementation group A is an autosomal recessive disorder (<a href="#48" class="mim-tip-reference" title="Tanaka, K., Miura, N., Satokata, I., Miyamoto, I., Yoshida, M. C., Satoh, Y., Kondo, S., Yasui, A., Okayama, H., Okada, Y. <strong>Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain.</strong> Nature 348: 73-76, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2234061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2234061</a>] [<a href="https://doi.org/10.1038/348073a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2234061">Tanaka et al., 1990</a>; <a href="#41" class="mim-tip-reference" title="Satokata, I., Tanaka, K., Miura, N., Narita, M., Mimaki, T., Satoh, Y., Kondo, S., Okada, Y. <strong>Three nonsense mutations responsible for group A xeroderma pigmentosum.</strong> Mutat. Res. 273: 193-202, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1372102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1372102</a>] [<a href="https://doi.org/10.1016/0921-8777(92)90080-m" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1372102">Satokata et al., 1992</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2234061+1372102" 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>Most Japanese patients with XP group A were found by <a href="#48" class="mim-tip-reference" title="Tanaka, K., Miura, N., Satokata, I., Miyamoto, I., Yoshida, M. C., Satoh, Y., Kondo, S., Yasui, A., Okayama, H., Okada, Y. <strong>Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain.</strong> Nature 348: 73-76, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2234061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2234061</a>] [<a href="https://doi.org/10.1038/348073a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2234061">Tanaka et al. (1990)</a> to have a splice site mutation in the XPA gene (<a href="/entry/611153#0001">611153.0001</a>). In these patients, reduced amount of mRNA of reduced size was found on Northern blot analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2234061" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In patients with XPA, <a href="#41" class="mim-tip-reference" title="Satokata, I., Tanaka, K., Miura, N., Narita, M., Mimaki, T., Satoh, Y., Kondo, S., Okada, Y. <strong>Three nonsense mutations responsible for group A xeroderma pigmentosum.</strong> Mutat. Res. 273: 193-202, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1372102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1372102</a>] [<a href="https://doi.org/10.1016/0921-8777(92)90080-m" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1372102">Satokata et al. (1992)</a> identified homozygous or compound heterozygous mutations in the XPA gene (<a href="/entry/611153#0002">611153.0002</a>-<a href="/entry/611153#0006">611153.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1372102" 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="#6" class="mim-tip-reference" title="Cleaver, J. E., Thompson, L. H., Richardson, A. S., States, J. C. <strong>A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.</strong> Hum. Mutat. 14: 9-22, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10447254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10447254</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10447254">Cleaver et al. (1999)</a> reviewed mutations identified in the XPA gene and their population frequencies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10447254" 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="#45" class="mim-tip-reference" title="States, J. C., McDuffie, E. R., Myrand, S. P., McDowell, M., Cleaver, J. E. <strong>Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.</strong> Hum. Mutat. 12: 103-113, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9671271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9671271</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.0.CO;2-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9671271">States et al. (1998)</a> performed a mutation analysis on XPA cell lines from 19 American and European patients. Most mutations were deletions and splice site mutations, observed previously in other XPA patients in exon 3, intron 3, or exon 4, that resulted in frameshifts within the DNA-binding region. One new mutation was a point mutation within intron 3 causing a new splice acceptor site that may compete with the original splice acceptor site. Mutations in the DNA-binding region of XPA were from patients with the more severe disease often associated with neurologic complications, whereas mutations in the C terminus of the protein, which interacts with the TFIIH (see <a href="/entry/189972">189972</a>) transcription factor, were from patients with milder skin disease only. The rarity of naturally occurring missense mutations in the DNA-binding region of XPA suggests that amino acid changes may be sufficiently tolerated such that patients would have mild symptoms and escape detection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9671271" 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="#21" class="mim-tip-reference" title="Haldane, J. B. S. <strong>A search for incomplete sex-linkage in man.</strong> Ann. Eugen. 17: 28-57, 1936."None>Haldane (1936)</a> suggested the possibility of partial sex-linked recessive inheritance in XP. <a href="#17" class="mim-tip-reference" title="El-Hefnawi, H., Smith, S. M., Penrose, L. S. <strong>Xeroderma pigmentosum--its inheritance and relationship to the ABO blood-group system.</strong> Ann. Hum. Genet. 28: 273-290, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14304640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14304640</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1964.tb00483.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14304640">El-Hefnawi et al. (1965)</a> presented useful Egyptian pedigrees with XP and suggested linkage with the ABO blood group locus. <a href="#4" class="mim-tip-reference" title="Bootsma, D., Keijzer, W. <strong>Genetic analysis of xeroderma pigmentosum including Egyptian families. (Abstract)</strong> Cytogenet. Cell Genet. 25: 139, 1979."None>Bootsma and Keijzer (1979)</a> studied 8 patients from 6 Egyptian XP families. Three were assigned to complementation group A and 5 to group C. Thus, the families reported by <a href="#17" class="mim-tip-reference" title="El-Hefnawi, H., Smith, S. M., Penrose, L. S. <strong>Xeroderma pigmentosum--its inheritance and relationship to the ABO blood-group system.</strong> Ann. Hum. Genet. 28: 273-290, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14304640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14304640</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1964.tb00483.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14304640">El-Hefnawi et al. (1965)</a> likely comprised at least 2 different complementation groups. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14304640" 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="#29" class="mim-tip-reference" title="Kraemer, K. H., Lee, M. M., Scotto, J. <strong>Xeroderma pigmentosum: cutaneous, ocular, and neurologic abnormalities in 830 published cases.</strong> Arch. Derm. 123: 241-250, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3545087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3545087</a>] [<a href="https://doi.org/10.1001/archderm.123.2.241" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3545087">Kraemer et al. (1987)</a> reviewed 850 published cases of XP in articles dating from 1874 to 1982. They stated that xeroderma pigmentosum was first described in Vienna by the Hungarian-born professor of dermatology Moriz Kaposi (born Moritz Kohn), in the textbook of dermatology he published in 1870 with his father-in-law, Ferdinand Hebra (<a href="#22" class="mim-tip-reference" title="Hebra, F., Kaposi, M. <strong>On Diseases of the Skin, Including Exanthemata. Vol. 3.</strong> London: New Sydenham Society (pub.) 1874. Pp. 252-258."None>Hebra and Kaposi, 1874</a>). They believed that xeroderma pigmentosum with neurologic abnormalities (de Sanctis-Cacchione syndrome) was first reported in 1883 by Albert Neisser of Breslau, Germany (who also discovered the bacterial cause of gonorrhea, the agent named Neisseria). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3545087" 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="#Afifi1972" class="mim-tip-reference" title="Afifi, A. K., Der Kaloustian, V. M., Mire, J. J. <strong>Muscular abnormality in xeroderma pigmentosum: high resolution light-microscopy and electron-microscopic observations.</strong> J. Neurol. Sci. 17: 435-442, 1972.">Afifi et al. (1972)</a>; <a href="#Bootsma1978" class="mim-tip-reference" title="Bootsma, D. <strong>Xeroderma pigmentosum. In: Hanawalt, P. C.; Friedberg, E. C.; Fox, C. F. (eds.): DNA Repair Mechanisms. ICN-UCLA Symposium on Molecular and Cellular Biology. Vol. IX.</strong> New York: Academic Press (pub.) 1978. Pp. 589-601.">Bootsma (1978)</a>; <a href="#Cleaver1990" class="mim-tip-reference" title="Cleaver, J. E. <strong>Do we know the cause of xeroderma pigmentosum?</strong> Carcinogenesis 11: 875-882, 1990.">Cleaver (1990)</a>; <a href="#Day1975" class="mim-tip-reference" title="Day, R. S. <strong>Xeroderma pigmentosum variants have decreased repair of ultraviolet-damaged DNA.</strong> Nature 253: 748-749, 1975.">Day (1975)</a>; <a href="#de1967" class="mim-tip-reference" title="de Grouchy, J., De Nava, C., Feingold, J., Frezal, J., Lamy, M. <strong>Asynchronie chromosomique dans un cas de xeroderma pigmentosum.</strong> Ann. Genet. 10: 224-225, 1967.">de
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Grouchy et al. (1967)</a>; <a href="#De1974" class="mim-tip-reference" title="De Weerd-Kastelein, E. A., Keijzer, W., Bootsma, D. <strong>A third complementation group in xeroderma pigmentosum.</strong> Mutat. Res. 22: 87-91, 1974.">De Weerd-Kastelein et al. (1974)</a>; <a href="#Friedberg1978" class="mim-tip-reference" title="Friedberg, E. C. <strong>Xeroderma pigmentosum: recent studies on the DNA repair defects.</strong> Arch. Path. Lab. Med. 102: 3-7, 1978.">Friedberg
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(1978)</a>; <a href="#German1984" class="mim-tip-reference" title="German, J., Hashem, N., El-Hefnawi, M., Cleaver, J. E. <strong>Xeroderma pigmentosum in Egypt. III. ABO blood grouping in 22 affected families.</strong> Ann. Hum. Genet. 48: 61-64, 1984.">German et al. (1984)</a>; <a href="#Hodge1980" class="mim-tip-reference" title="Hodge, S. E., Berkel, A. I., Gatti, R. A., Boder, E., Spence, M. A. <strong>Ataxia-telangiectasia and xeroderma pigmentosum: no evidence of linkage to HLA.</strong> Tissue Antigens 15: 313-317, 1980.">Hodge et al. (1980)</a>; <a href="#Kraemer1975" class="mim-tip-reference" title="Kraemer, K. H., De Weerd-Kastelein, E. A., Robbins, J. H., Keijzer, W., Barrett, S. F., Petinga, R. A., Bootsma, D. <strong>Five complementation groups in xeroderma pigmentosum.</strong> Mutat. Res. 33: 327-340, 1975.">Kraemer et al.
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(1975)</a>; <a href="#Lynch1978" class="mim-tip-reference" title="Lynch, H. T., Frichot, B. C., III, Fisher, J., Smith, J. L., Jr., Lynch, J. F. <strong>Spontaneous regression of metastatic malignant melanoma in 2 sibs with xeroderma pigmentosum.</strong> J. Med. Genet. 15: 357-362, 1978.">Lynch et al. (1978)</a>; <a href="#Macklin1944" class="mim-tip-reference" title="Macklin, M. T. <strong>Xeroderma pigmentosum: report of a case and consideration of incomplete sex linkage in inheritance of the disease.</strong> Arch. Derm. Syph. 49: 157-171, 1944.">Macklin (1944)</a>; <a href="#Maher1976" class="mim-tip-reference" title="Maher, V. M., Ouellette, L. M., Curren, R. D., McCormick, J. J. <strong>Frequency of ultraviolet light-induced mutation is higher in xeroderma pigmentosum variant cells than in normal human cells.</strong> Nature 261: 593-595, 1976.">Maher et al. (1976)</a>; <a href="#Maher1982" class="mim-tip-reference" title="Maher, V. M., Rowan, L. A., Silinskas, K. C., Kateley, S. A., McCormick, J. J. <strong>Frequency of UV-induced neoplastic transformation of diploid human fibroblasts is higher in xeroderma pigmentosum cells than in normal cells.</strong> Proc. Nat. Acad. Sci. 79: 2613-2617, 1982.">Maher et al. (1982)</a>; <a href="#Pawsey1979" class="mim-tip-reference" title="Pawsey, S. A., Magnus, I. A., Ramsay, C. A., Benson, P. F., Giannelli, F. <strong>Clinical, genetic and DNA repair on a consecutive series of patients with xeroderma pigmentosum.</strong> Quart. J. Med. 48: 179-210, 1979.">Pawsey et al. (1979)</a>; <a href="#Regan1971" class="mim-tip-reference" title="Regan, J. D., Setlow, R. B., Kaback, M. M., Howell, R. R., Klein, E., Burgess, G. <strong>Xeroderma pigmentosum: a rapid sensitive method for prenatal diagnosis.</strong> Science 174: 147-150, 1971.">Regan et al. (1971)</a>; <a href="#Satokata1990" class="mim-tip-reference" title="Satokata, I., Tanaka, K., Miura, N., Miyamoto, I., Satoh, Y., Kondo, S., Okada, Y. <strong>Characterization of a splicing mutation in group A xeroderma pigmentosum.</strong> Proc. Nat. Acad. Sci. 87: 9908-9912, 1990.">Satokata et al. (1990)</a>; <a href="#Satokata1992" class="mim-tip-reference" title="Satokata, I., Tanaka, K., Okada, Y. <strong>Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene.</strong> Hum. Genet. 88: 603-607, 1992.">Satokata et al. (1992)</a>; <a href="#Schultz1985" class="mim-tip-reference" title="Schultz, R. A., Barbis, D. P., Friedberg, E. C. <strong>Studies on gene transfer and reversion to UV resistance in xeroderma pigmentosum cells.</strong> Somat. Cell Molec. Genet. 11: 617-624, 1985.">Schultz et al.
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(1985)</a>; <a href="#Yang1984" class="mim-tip-reference" title="Yang, L. L., Kouri, R. E., Curren, R. D. <strong>Xeroderma pigmentosum fibroblasts are more sensitive to asbestos fibers than are normal human fibroblasts.</strong> Carcinogenesis 5: 291-294, 1984.">Yang et al. (1984)</a>
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Afifi, A. K., Der Kaloustian, V. M., Mire, J. J.
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<strong>Muscular abnormality in xeroderma pigmentosum: high resolution light-microscopy and electron-microscopic observations.</strong>
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J. Neurol. Sci. 17: 435-442, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5086257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5086257</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5086257" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0022-510x(72)90155-4" target="_blank">Full Text</a>]
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Andrews, A. D., Barrett, S. F., Robbins, J. H.
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<strong>Xeroderma pigmentosum neurological abnormalities correlated with colony-forming ability after ultraviolet radiation.</strong>
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Proc. Nat. Acad. Sci. 75: 1984-1988, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/273925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">273925</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=273925" 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.75.4.1984" target="_blank">Full Text</a>]
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Bootsma, D., Hoeijmakers, J. H. J.
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<strong>The genetic basis of xeroderma pigmentosum.</strong>
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Ann. Genet. 34: 143-150, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1809220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1809220</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1809220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bootsma, D., Keijzer, W.
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<strong>Genetic analysis of xeroderma pigmentosum including Egyptian families. (Abstract)</strong>
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Cytogenet. Cell Genet. 25: 139, 1979.
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<strong>Xeroderma pigmentosum. In: Hanawalt, P. C.; Friedberg, E. C.; Fox, C. F. (eds.): DNA Repair Mechanisms. ICN-UCLA Symposium on Molecular and Cellular Biology. Vol. IX.</strong>
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New York: Academic Press (pub.) 1978. Pp. 589-601.
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Cleaver, J. E., Thompson, L. H., Richardson, A. S., States, J. C.
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<strong>A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.</strong>
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Hum. Mutat. 14: 9-22, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10447254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10447254</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10447254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6" target="_blank">Full Text</a>]
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Cleaver, J. E.
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<strong>Defective repair replication of DNA in xeroderma pigmentosum.</strong>
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Nature 218: 652-656, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5655953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5655953</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5655953" 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/10.1038/218652a0" target="_blank">Full Text</a>]
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Cleaver, J. E.
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<strong>Xeroderma pigmentosum: biochemical and genetic characteristics.</strong>
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Ann. Rev. Genet. 9: 19-38, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1108765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1108765</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1108765" 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/10.1146/annurev.ge.09.120175.000315" target="_blank">Full Text</a>]
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Cleaver, J. E.
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<strong>Do we know the cause of xeroderma pigmentosum?</strong>
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Carcinogenesis 11: 875-882, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2189596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2189596</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2189596" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/carcin/11.6.875" target="_blank">Full Text</a>]
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<strong>It was a very good year for DNA repair.</strong>
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Cell 76: 1-4, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8287470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8287470</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8287470" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0092-8674(94)90165-1" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/253748a0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/j.1460-2075.1983.tb01477.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0027-5107(74)90013-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1469-1809.1964.tb00483.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1469-1809.1984.tb00835.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/newbio239142a0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0039.1980.tb00922.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/brain/113.4.1025" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0014-4827(82)90163-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.72.1.59" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0027-5107(75)90208-0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM198806233182501" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archderm.123.2.241" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.15.5.357" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/261593a0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.79.8.2613" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI114403" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.174.4005.147" target="_blank">Full Text</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 href="https://doi.org/10.1111/j.1365-2133.1992.tb00681.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.87.24.9908" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0921-8777(92)90080-m" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF02265282" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01534726" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0092-8674(00)80155-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.0.CO;2-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00278968" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2234061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2234061</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2234061" 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/10.1038/348073a0" target="_blank">Full Text</a>]
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</p>
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<a id="49" class="mim-anchor"></a>
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<a id="Welshimer1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Welshimer, K., Swift, M.
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<strong>Congenital malformations and developmental disabilities in ataxia-telangiectasia, Fanconi anemia, and xeroderma pigmentosum families.</strong>
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Am. J. Hum. Genet. 34: 781-793, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7124732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7124732</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7124732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="50" class="mim-anchor"></a>
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<a id="Yamaizumi1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yamaizumi, M., Sugano, T., Asahina, H., Okada, Y., Uchida, T.
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<strong>Microinjection of partially purified protein factor restores DNA damage specifically in group A of xeroderma pigmentosum cells.</strong>
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Proc. Nat. Acad. Sci. 83: 1476-1479, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3456596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3456596</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3456596" 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.83.5.1476" target="_blank">Full Text</a>]
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<li>
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<a id="51" class="mim-anchor"></a>
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<a id="Yang1984" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yang, L. L., Kouri, R. E., Curren, R. D.
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<strong>Xeroderma pigmentosum fibroblasts are more sensitive to asbestos fibers than are normal human fibroblasts.</strong>
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Carcinogenesis 5: 291-294, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6321052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6321052</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6321052" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/carcin/5.2.291" target="_blank">Full Text</a>]
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</ol>
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<a id="contributors" class="mim-anchor"></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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Cassandra L. Kniffin - reorganized : 7/12/2007
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 4/3/2003<br>Victor A. McKusick - updated : 12/14/2001<br>Stylianos E. Antonarakis - updated : 8/3/2001<br>Victor A. McKusick - updated : 7/21/1999<br>Victor A. McKusick - updated : 6/7/1999<br>Victor A. McKusick - updated : 1/29/1999<br>Victor A. McKusick - updated : 1/28/1999<br>Victor A. McKusick - updated : 8/5/1998<br>Victor A. McKusick - updated : 5/15/1997
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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</span>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 11/26/2024
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 11/22/2024<br>carol : 10/17/2016<br>wwang : 08/05/2009<br>carol : 7/12/2007<br>ckniffin : 7/6/2007<br>carol : 5/3/2006<br>ckniffin : 6/15/2005<br>mgross : 4/14/2005<br>joanna : 3/19/2004<br>carol : 11/24/2003<br>alopez : 4/4/2003<br>terry : 4/3/2003<br>alopez : 12/19/2001<br>terry : 12/14/2001<br>mgross : 8/3/2001<br>terry : 12/3/1999<br>jlewis : 7/30/1999<br>terry : 7/21/1999<br>mgross : 6/16/1999<br>terry : 6/7/1999<br>carol : 5/26/1999<br>carol : 2/3/1999<br>terry : 1/29/1999<br>terry : 1/29/1999<br>carol : 1/28/1999<br>alopez : 8/7/1998<br>terry : 8/5/1998<br>psherman : 5/13/1998<br>psherman : 5/8/1998<br>jenny : 5/15/1997<br>terry : 5/12/1997<br>mark : 1/17/1996<br>mark : 1/17/1996<br>terry : 10/27/1995<br>mark : 9/24/1995<br>carol : 1/3/1995<br>davew : 8/22/1994<br>warfield : 4/20/1994<br>mimadm : 3/12/1994
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<h3>
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<span class="mim-font">
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<strong>#</strong> 278700
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
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</h3>
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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XP, GROUP A<br />
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XERODERMA PIGMENTOSUM I; XP1
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 43477006;
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<strong>ORPHA:</strong> 910;
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<strong>DO:</strong> 0110843;
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<strong>Phenotype-Gene Relationships</strong>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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9q22.33
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<td>
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<span class="mim-font">
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Xeroderma pigmentosum, group A
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</td>
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<td>
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<span class="mim-font">
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278700
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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<td>
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<span class="mim-font">
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3
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<td>
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<span class="mim-font">
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XPA
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<td>
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<span class="mim-font">
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611153
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because xeroderma pigmentosum complementation group A (XPA) is caused by homozygous or compound heterozygous mutation in the XPA gene (611153) on chromosome 9q22.</p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Xeroderma pigmentosum (XP) is a genetically heterogeneous autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Some patients develop neurologic symptoms or a more severe clinical phenotype known as de Sanctis-Cacchione syndrome (278800) (Satokata et al., 1992). </p><p><strong><em>Genetic Heterogeneity of Xeroderma Pigmentosum</em></strong></p><p>
|
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See also XPB (610651), XPC (278720), XPD (278730), XPE (278740), XPF (278760), XPG (278780), and variant XP (XPV; 278750).</p>
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</span>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>Ruder (cited by Cockayne, 1933) observed the condition in 7 out of 13 sibs.</p><p>Kanda et al. (1990) indicated that most patients with group A XP, the most common form in Japan, show involvement of the central and peripheral nervous systems in addition to cutaneous lesions. The authors detailed the pathologic changes in the peripheral nervous system. </p><p>Bootsma and Hoeijmakers (1991) compared the clinical and biologic characteristics of 7 excision repair-deficient XP complementation groups. They found that XPA and XPC have high relative frequency; XPD and XPF have intermediate frequency, and the other 3 are rare. For each of the 7 types, they tabulated the occurrence of clinical manifestations in 4 areas, skin cancer, neurologic abnormality, symptoms of Cockayne syndrome (see CSA, 216400), and trichothiodystrophy (601675), as well as the levels of unscheduled DNA synthesis after UV exposure and of UV sensitivity. </p><p>Salob et al. (1992) reported a Pakistani girl, the offspring of second cousins, who developed photosensitivity at the age of 2 years; at the age of 9 years, she was found to have typical xeroderma pigmentosum together with bone marrow hypoplasia of a type seen in Fanconi anemia (FA; 227650). Salob et al. (1992) suggested that this was not a chance association but that the bone marrow hypoplasia reflected an increased susceptibility of the patient's hematopoietic stem cells to non-UV mutagens. </p><p>Kraemer et al. (1994) examined reports of 132 patients with xeroderma pigmentosum. Malignant skin neoplasms were present in 70% of the patients with XP at a median age of 8 years (50 years earlier than in the U.S. white population); 57% of the patients had basal cell or squamous cell carcinoma, and 22% had melanoma. The frequency of melanomas, like the frequency of nonmelanoma skin cancers, anterior eye cancers, and tongue cancers, but unlike that of internal neoplasms, was increased 1,000-fold or more in patients with XP who were younger than 20 years. As in the general population, the anatomic distribution of melanomas was different from that of nonmelanomas in the patients with XP. Data were interpreted as suggesting that DNA repair plays a major role in the prevention of cutaneous cancers in the general population, and that sunlight exposure is responsible for the induction of melanoma as well as nonmelanoma skin cancers in patients with XP, although acting by different mechanisms for the 2 types of skin cancer. </p><p><strong><em>Heterozygotes</em></strong></p><p>
|
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Swift and Chase (1979) found that in 31 families of XP patients, significantly more blood relatives than spouse controls had had nonmelanoma skin cancer. These family data supported the hypothesis that heterozygosity for XP genes may predispose persons to skin cancer, particularly in association with substantial exposure to sunlight, which might overwhelm their DNA repair enzymes. </p><p>Some aspect of DNA repair mechanisms is deficient in 4 other inherited diseases: ataxia-telangiectasia (AT; 208900), Fanconi anemia, Bloom syndrome (BLM; 210900), and Cockayne syndrome. Welshimer and Swift (1982) studied families of homozygotes for these disorders to test the hypothesis that heterozygotes may be predisposed to some of the same congenital malformations and developmental disabilities that are common among homozygotes. Among XP relatives, 11 of 1,100 had unexplained mental retardation, whereas only 3 of 1,439 relatives of FA and AT homozygotes showed mental retardation. Four XP relatives and no FA or AT relatives had microcephaly. Idiopathic scoliosis and vertebral anomalies occurred in excess in AT relatives, while genitourinary and distal limb malformations were found in FA families. </p><p>Parshad et al. (1990) identified XP heterozygotes by the finding of elevated frequencies of chromatid breaks and gaps after G2 phase x-irradiation of peripheral blood lymphocytes or skin fibroblasts. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kraemer et al. (1988) found that 5 patients with XP had a reduction in the number of skin cancers during treatment with isotretinoin: they had a total of 121 tumors in a 2-year interval before treatment and a total of 25 tumors during 2 years of treatment. After the drug was discontinued, the tumor frequency increased at a mean of 8.5-fold over the frequency during treatment. All patients experienced mucocutaneous toxic effects, however, and abnormalities of triglycerides, liver function, or the skeleton developed in some. </p><p>Davis et al. (1994) reported 3 patients in whom strenuous preventive measures for UV light avoidance and shielding resulted in a lack of the degree of cutaneous damage usually seen in this disorder. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Pathogenesis</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Cleaver (1968) showed that skin fibroblasts from patients with xeroderma pigmentosum had defective or absent DNA repair in response to ultraviolet radiation damage, whereas normal skin fibroblasts could repair this damage by inserting new bases into DNA. Goldstein and Lin (1972) showed that XP-hamster somatic cell hybrids had normal DNA repair and survived ultraviolet irradiation, indicating that the normal hamster cell was able to complement the defect. </p><p>Robbins et al. (1974) noted that 4 XP complementation groups, XPA-XPD, had been found to date, indicating that mutation at any one of at least 4 loci cause defective DNA repair resulting in the clinical phenotype. Although there were no consistent clinical correlations, the groups showed different DNA repair rates: group A less than 2% of normal; group B, 3 to 7% of normal; group C, 10 to 25% of normal; and group D, 25 to 55% of normal. By 1975, 5 forms of XP with deficiency in excision repair had been identified by cell complementation (Kraemer et al., 1975; Cleaver, 1975). </p><p>Andrews et al. (1978) demonstrated a correlation between the degree of UV sensitivity of cultured fibroblasts, as measured by colony forming ability, and the severity of neurologic manifestations in patients with XP. The authors concluded that DNA repair is required for maintenance of the functional integrity of the nervous system by preventing premature death of neurons. Stefanini et al. (1980) observed a discrepancy in clinical severity and residual enzyme activity in sibs and suggested somatic back-mutation in the milder sib. </p><p>Keijzer et al. (1982) observed that cytoplasts from normal human fibroblasts could complement the defect of xeroderma pigmentosum A cells after fusion with UV-irradiated XPA cells. De Jonge et al. (1983) found that microinjection of cell extracts from either human placenta or HeLa cells into XPA cells restored unscheduled DNA synthesis in these cells after UV irradiation and showed normal resistance to UV irradiation. Yamaizumi et al. (1986) found that the half-life of the injected factor was 14 hrs in XPA cells with maximal effects exerted 2 hrs after microinjection. The factors were sensitive to protease but not to RNase and had a molecular weight of about 160 and 90 kD by gel filtration. The factor fractions did not work in other XP groups. </p><p>Cleaver (1994) outlined information on the human diseases due to defects in DNA repair, including the mismatch repair system in familial nonpolyposis colorectal cancer (MSH2; 609309), and provided a highly useful block diagram of the steps involved in major branches of nucleotide excision repair. The initial step involves the DNA-binding proteins XPA and XPE; the latter has 2 subunits. Thereafter, 2 branches, transcription dependent and transcription independent, operate in different regions of the genome to change DNA structure by a helicase action for excision. Some gene products appear unique to these branches; i.e., XPC for transcription independent, CSA (609412) and CSB (609413) for transcription dependent, whereas others are involved in both (XPB and XPD). The damaged region is cut out in a 29- to 30-nucleotide fragment by the action of 2 excision nucleases: one is a complex of ERCC1 (126380) and ERCC4 (133520) that can act on single-stranded and duplex-supercoiled DNA; the other, the XPG product, acts on single-stranded DNA. The remaining single-strand template is protected by single-strand binding protein RPA, and a patch is then synthesized by proliferating cell nuclear antigen (PCNA), DNA polymerase delta/epsilon, and ligase. Cleaver (1994) noted that the ERCC4, ERCC11, and XPF proteins may be identical, a statement proven by Sijbers et al. (1996). </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Xeroderma pigmentosum complementation group A is an autosomal recessive disorder (Tanaka et al., 1990; Satokata et al., 1992). </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Most Japanese patients with XP group A were found by Tanaka et al. (1990) to have a splice site mutation in the XPA gene (611153.0001). In these patients, reduced amount of mRNA of reduced size was found on Northern blot analysis. </p><p>In patients with XPA, Satokata et al. (1992) identified homozygous or compound heterozygous mutations in the XPA gene (611153.0002-611153.0006). </p><p>Cleaver et al. (1999) reviewed mutations identified in the XPA gene and their population frequencies. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>States et al. (1998) performed a mutation analysis on XPA cell lines from 19 American and European patients. Most mutations were deletions and splice site mutations, observed previously in other XPA patients in exon 3, intron 3, or exon 4, that resulted in frameshifts within the DNA-binding region. One new mutation was a point mutation within intron 3 causing a new splice acceptor site that may compete with the original splice acceptor site. Mutations in the DNA-binding region of XPA were from patients with the more severe disease often associated with neurologic complications, whereas mutations in the C terminus of the protein, which interacts with the TFIIH (see 189972) transcription factor, were from patients with milder skin disease only. The rarity of naturally occurring missense mutations in the DNA-binding region of XPA suggests that amino acid changes may be sufficiently tolerated such that patients would have mild symptoms and escape detection. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Haldane (1936) suggested the possibility of partial sex-linked recessive inheritance in XP. El-Hefnawi et al. (1965) presented useful Egyptian pedigrees with XP and suggested linkage with the ABO blood group locus. Bootsma and Keijzer (1979) studied 8 patients from 6 Egyptian XP families. Three were assigned to complementation group A and 5 to group C. Thus, the families reported by El-Hefnawi et al. (1965) likely comprised at least 2 different complementation groups. </p><p>Kraemer et al. (1987) reviewed 850 published cases of XP in articles dating from 1874 to 1982. They stated that xeroderma pigmentosum was first described in Vienna by the Hungarian-born professor of dermatology Moriz Kaposi (born Moritz Kohn), in the textbook of dermatology he published in 1870 with his father-in-law, Ferdinand Hebra (Hebra and Kaposi, 1874). They believed that xeroderma pigmentosum with neurologic abnormalities (de Sanctis-Cacchione syndrome) was first reported in 1883 by Albert Neisser of Breslau, Germany (who also discovered the bacterial cause of gonorrhea, the agent named Neisseria). </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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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Afifi et al. (1972); Bootsma (1978); Cleaver (1990); Day (1975); de
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Grouchy et al. (1967); De Weerd-Kastelein et al. (1974); Friedberg
|
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(1978); German et al. (1984); Hodge et al. (1980); Kraemer et al.
|
|
(1975); Lynch et al. (1978); Macklin (1944); Maher et al. (1976);
|
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Maher et al. (1982); Pawsey et al. (1979); Regan et al. (1971);
|
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Satokata et al. (1990); Satokata et al. (1992); Schultz et al.
|
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(1985); Yang et al. (1984)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Afifi, A. K., Der Kaloustian, V. M., Mire, J. J.
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<strong>Muscular abnormality in xeroderma pigmentosum: high resolution light-microscopy and electron-microscopic observations.</strong>
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J. Neurol. Sci. 17: 435-442, 1972.
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[PubMed: 5086257]
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[Full Text: https://doi.org/10.1016/0022-510x(72)90155-4]
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</li>
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<li>
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<p class="mim-text-font">
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Andrews, A. D., Barrett, S. F., Robbins, J. H.
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<strong>Xeroderma pigmentosum neurological abnormalities correlated with colony-forming ability after ultraviolet radiation.</strong>
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Proc. Nat. Acad. Sci. 75: 1984-1988, 1978.
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[PubMed: 273925]
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[Full Text: https://doi.org/10.1073/pnas.75.4.1984]
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<p class="mim-text-font">
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Bootsma, D., Hoeijmakers, J. H. J.
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<strong>The genetic basis of xeroderma pigmentosum.</strong>
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Ann. Genet. 34: 143-150, 1991.
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<p class="mim-text-font">
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Bootsma, D., Keijzer, W.
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<strong>Genetic analysis of xeroderma pigmentosum including Egyptian families. (Abstract)</strong>
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Cytogenet. Cell Genet. 25: 139, 1979.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bootsma, D.
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<strong>Xeroderma pigmentosum. In: Hanawalt, P. C.; Friedberg, E. C.; Fox, C. F. (eds.): DNA Repair Mechanisms. ICN-UCLA Symposium on Molecular and Cellular Biology. Vol. IX.</strong>
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New York: Academic Press (pub.) 1978. Pp. 589-601.
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Cleaver, J. E., Thompson, L. H., Richardson, A. S., States, J. C.
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<strong>A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.</strong>
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Hum. Mutat. 14: 9-22, 1999.
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<p class="mim-text-font">
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Cleaver, J. E.
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<strong>Defective repair replication of DNA in xeroderma pigmentosum.</strong>
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Nature 218: 652-656, 1968.
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[PubMed: 5655953]
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[Full Text: https://doi.org/10.1038/218652a0]
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Cleaver, J. E.
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<strong>Xeroderma pigmentosum: biochemical and genetic characteristics.</strong>
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Ann. Rev. Genet. 9: 19-38, 1975.
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[Full Text: https://doi.org/10.1146/annurev.ge.09.120175.000315]
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<p class="mim-text-font">
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Cleaver, J. E.
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<strong>Do we know the cause of xeroderma pigmentosum?</strong>
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Carcinogenesis 11: 875-882, 1990.
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<p class="mim-text-font">
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Cleaver, J. E.
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<strong>It was a very good year for DNA repair.</strong>
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Cell 76: 1-4, 1994.
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[PubMed: 8287470]
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[Full Text: https://doi.org/10.1016/0092-8674(94)90165-1]
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<p class="mim-text-font">
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Cockayne, E. A.
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<strong>Inherited Abnormalities of the Skin and Its Appendages.</strong>
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London: Oxford Univ. Press (pub.) 1933.
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Davis, B. E., Koh, H. K., Rohrer, T. E., Gonzalez, E., Cleaver, J. E.
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<strong>Sunlight avoidance and cancer prevention in xeroderma pigmentosum.</strong>
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Arch. Derm. 130: 806-808, 1994.
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[PubMed: 8002661]
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<p class="mim-text-font">
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Day, R. S.
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<strong>Xeroderma pigmentosum variants have decreased repair of ultraviolet-damaged DNA.</strong>
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Nature 253: 748-749, 1975.
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[PubMed: 1113871]
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de Grouchy, J., De Nava, C., Feingold, J., Frezal, J., Lamy, M.
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<strong>Asynchronie chromosomique dans un cas de xeroderma pigmentosum.</strong>
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Ann. Genet. 10: 224-225, 1967.
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[PubMed: 5301697]
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de Jonge, A. J., Vermeulen, W., Klein, B., Hoeijmakers, J. H.
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<strong>Microinjection of human cell extracts corrects xeroderma pigmentosum defect.</strong>
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EMBO J. 2: 637-641, 1983.
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De Weerd-Kastelein, E. A., Keijzer, W., Bootsma, D.
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<strong>A third complementation group in xeroderma pigmentosum.</strong>
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Mutat. Res. 22: 87-91, 1974.
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El-Hefnawi, H., Smith, S. M., Penrose, L. S.
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<strong>Xeroderma pigmentosum--its inheritance and relationship to the ABO blood-group system.</strong>
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Friedberg, E. C.
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Arch. Path. Lab. Med. 102: 3-7, 1978.
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German, J., Hashem, N., El-Hefnawi, M., Cleaver, J. E.
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<strong>Xeroderma pigmentosum in Egypt. III. ABO blood grouping in 22 affected families.</strong>
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Ann. Hum. Genet. 48: 61-64, 1984.
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[PubMed: 6712155]
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Goldstein, S., Lin, C. C.
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<strong>Survival and DNA repair of somatic cell hybrids after ultraviolet irradiation.</strong>
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Nature N.B. 239: 142-145, 1972.
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Haldane, J. B. S.
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<strong>A search for incomplete sex-linkage in man.</strong>
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Ann. Eugen. 17: 28-57, 1936.
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<li>
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<p class="mim-text-font">
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Hebra, F., Kaposi, M.
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<strong>On Diseases of the Skin, Including Exanthemata. Vol. 3.</strong>
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London: New Sydenham Society (pub.) 1874. Pp. 252-258.
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</p>
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<li>
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<p class="mim-text-font">
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Hodge, S. E., Berkel, A. I., Gatti, R. A., Boder, E., Spence, M. A.
|
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<strong>Ataxia-telangiectasia and xeroderma pigmentosum: no evidence of linkage to HLA.</strong>
|
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Tissue Antigens 15: 313-317, 1980.
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[PubMed: 7466773]
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[Full Text: https://doi.org/10.1111/j.1399-0039.1980.tb00922.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Kanda, T., Oda, M., Yonezawa, M., Tamagawa, K., Isa, F., Hanakago, R., Tsukagoshi, H.
|
|
<strong>Peripheral neuropathy in xeroderma pigmentosum.</strong>
|
|
Brain 113: 1025-1044, 1990.
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[PubMed: 2168777]
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[Full Text: https://doi.org/10.1093/brain/113.4.1025]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Keijzer, W., Verkerk, A., Bootsma, D.
|
|
<strong>Phenotypic correction of the defect in xeroderma pigmentosum cells after fusion with isolated cytoplasts.</strong>
|
|
Exp. Cell Res. 140: 119-125, 1982.
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|
[PubMed: 7106197]
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[Full Text: https://doi.org/10.1016/0014-4827(82)90163-x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Kraemer, K. H., Coon, H. G., Petinga, R. A., Barrett, S. F., Rahe, A. E., Robbins, J. H.
|
|
<strong>Genetic heterogeneity in xeroderma pigmentosum: complementation groups and their relationship to DNA repair rates.</strong>
|
|
Proc. Nat. Acad. Sci. 72: 59-63, 1975.
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[PubMed: 164028]
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[Full Text: https://doi.org/10.1073/pnas.72.1.59]
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Printed: March 5, 2025
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OMIM Donation:
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Dear OMIM User,
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To ensure long-term funding for the OMIM project, we have diversified
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our revenue stream. We are determined to keep this website freely
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accessible. Unfortunately, it is not free to produce. Expert curators
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review the literature and organize it to facilitate your work. Over 90%
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of the OMIM's operating expenses go to salary support for MD and PhD
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science writers and biocurators. Please join your colleagues by making a
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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