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Entry
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- #610448 - CHILBLAIN LUPUS 1; CHBL1
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- OMIM
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<p>
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<span class="h4">#610448</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="/clinicalSynopsis/610448"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS610448"> <strong>Phenotypic Series</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="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#otherFeatures">Other Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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</nav>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</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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</a>
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<div><a href="https://clinicaltrials.gov/search?cond=(CHILBLAIN LUPUS) OR (TREX1)" class="mim-tip-hint" title="Clinical Trials" 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=25239&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.diseaseinfosearch.org/x/7966" 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=610448[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=481662" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<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 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:0060386" 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/610448" 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:0060386" 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>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 481662<br />
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<strong>DO:</strong> 0060386<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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610448
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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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CHILBLAIN LUPUS 1; CHBL1
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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="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</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/3/281?start=-3&limit=10&highlight=281">
|
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3p21.31
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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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Chilblain lupus
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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/610448"> 610448 </a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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TREX1
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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/606609"> 606609 </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 class="btn-group ">
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<a href="/clinicalSynopsis/610448" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS610448" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/610448" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/610448" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> CARDIOVASCULAR </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<em> Vascular </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- No Raynaud phenomenon <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968887&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968887</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Arthralgias (knees and shoulders) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3810430&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3810430</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57676002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57676002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M25.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M25.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/719.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.40</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/719.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.4</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002829</a>]</span><br />
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|
|
</span>
|
|
</div>
|
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|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Painful bluish-red papules or nodules (fingers, toes, nose, cheek, ears) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968882&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968882</a>]</span><br /> -
|
|
Cutaneous ulcers <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46742003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46742003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L98.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L98.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0037299&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037299</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200042" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200042</a>]</span><br /> -
|
|
Healed areas are atrophic and hypopigmented <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968883&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968883</a>]</span><br /> -
|
|
No cutaneous photosensitivity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968884</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin Histology </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Deep inflammatory perivascular infiltrate with granular deposits of immunoglobulins and complement along basement membrane <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968885&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968885</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nails </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Subungual lesions (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968886</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
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|
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|
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|
|
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|
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|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> IMMUNOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Antinuclear antibody present (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165850001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165850001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151480</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003493" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003493</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Environmental triggers - cold and wet exposure<br /> -
|
|
Onset in early childhood<br /> -
|
|
Allelic to Aicardi-Goutieres syndrome (<a href="/entry/225750">225750</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the 3-prime repair exonuclease-1 gene (TREX1, <a href="/entry/606609#0005">606609.0005</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Chilblain lupus
|
|
- <a href="/phenotypicSeries/PS610448">PS610448</a>
|
|
- 2 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/281?start=-3&limit=10&highlight=281"> 3p21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610448"> Chilblain lupus </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610448"> 610448 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606609"> TREX1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606609"> 606609 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/264?start=-3&limit=10&highlight=264"> 20q11.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614415"> ?Chilblain lupus 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614415"> 614415 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606754"> SAMHD1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606754"> 606754 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
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|
|
<div>
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<p>A number sign (#) is used with this entry because of evidence that chilblain lupus-1 (CHBL1) is caused by heterozygous mutation in the TREX1 gene (<a href="/entry/606609">606609</a>) on chromosome 3p21.</p>
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<p>Chilblain lupus is a cutaneous form of systemic lupus erythematosus (SLE; <a href="/entry/152700">152700</a>) characterized by the appearance of painful bluish-red papular or nodular lesions of the skin in acral locations (including the dorsal aspects of fingers and toes, heels, nose, cheeks, ears, and, in some cases, knees) precipitated by cold and wet exposure (summary by <a href="#5" class="mim-tip-reference" title="Lee-Kirsch, M. A., Gong, M., Schulz, H., Ruschendorf, F., Stein, A., Pfeiffer, C., Ballarini, A., Gahr, M., Hubner, N., Linne, M. <strong>Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.</strong> Am. J. Hum. Genet. 79: 731-737, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960810</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960810[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/507848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960810">Lee-Kirsch et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16960810" 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 Chilblain Lupus</em></strong></p><p>
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See also CHBL2 (<a href="/entry/614415">614415</a>), caused by mutation in the SAMHD1 gene (<a href="/entry/606754">606754</a>) on chromosome 20q11.</p><p>Mutations in the TREX1 and SAMHD1 genes also cause Aicardi-Goutieres syndrome (AGS1, <a href="/entry/225750">225750</a> and AGS5, <a href="/entry/612952">612952</a>, respectively).</p>
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<p>Chilblain lupus, a rare cutaneous form of systemic lupus erythematosus (<a href="/entry/152700">152700</a>), was first described by Jonathan <a href="#2" class="mim-tip-reference" title="Hutchinson, J. <strong>Harveian lectures on lupus, lecture III: on the various forms of lupus vulgaris and erythematosus.</strong> Brit. Med. J. 1: 113-118, 1888.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20752149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20752149</a>] [<a href="https://doi.org/10.1136/bmj.1.1412.113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20752149">Hutchinson (1888)</a>. <a href="#5" class="mim-tip-reference" title="Lee-Kirsch, M. A., Gong, M., Schulz, H., Ruschendorf, F., Stein, A., Pfeiffer, C., Ballarini, A., Gahr, M., Hubner, N., Linne, M. <strong>Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.</strong> Am. J. Hum. Genet. 79: 731-737, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960810</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960810[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/507848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960810">Lee-Kirsch et al. (2006)</a> described a large nonconsanguineous German family with 18 members over 5 generations affected with chilblain lupus. Affected individuals presented with painful bluish-red papular or nodular lesions of the skin in acral locations (including the dorsal aspects of fingers and toes, heels, nose, cheeks, ears, and, in some cases, knees) precipitated by cold and wet exposure at temperatures less than 10 degrees centigrade. Sometimes a plaque-like appearance was noted, and ulceration was commonly seen. Although deep ulceration led to necrotic destruction of the distal interphalangeal joint of the left fifth finger in the index patient at age 15 years, the lesions usually healed without scars, occasionally leaving atrophic skin and pigmentary changes. The onset of the skin lesions was in early childhood, and, in most patients, the lesions tended to improve during summer. Mucous membranes and nails were not affected, although subungual lesions were sometimes seen. There was no associated Raynaud phenomenon (see <a href="/entry/179600">179600</a>) or photosensitivity. There was no evidence of associated disease of any internal organ (including the CNS), immune deficiency, or malignancy. Arthralgias affected mainly large joints, such as knees and shoulders. There was no increased susceptibility to infection. Histologic findings included a deep inflammatory infiltrate with perivascular distribution and granular deposits of immunoglobulins and complement along the basement membrane. Some affected individuals showed antinuclear antibodies or immune complex formation, whereas cryoglobulins or cold agglutinins were absent. The family study suggested a highly penetrant trait with autosomal dominant inheritance. Chilblain lupus occurs predominantly in adult women and has only rarely been described in children. Before the report of <a href="#5" class="mim-tip-reference" title="Lee-Kirsch, M. A., Gong, M., Schulz, H., Ruschendorf, F., Stein, A., Pfeiffer, C., Ballarini, A., Gahr, M., Hubner, N., Linne, M. <strong>Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.</strong> Am. J. Hum. Genet. 79: 731-737, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960810</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960810[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/507848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960810">Lee-Kirsch et al. (2006)</a> there had been only one report of familial chilblain lupus, in 2 brothers (<a href="#10" class="mim-tip-reference" title="Weston, W. L., Morelli, J. G. <strong>Childhood pernio and cryoproteins.</strong> Pediat. Derm. 17: 97-99, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10792795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10792795</a>] [<a href="https://doi.org/10.1046/j.1525-1470.2000.01722.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10792795">Weston and Morelli, 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16960810+10792795+20752149" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Rice, G., Newman, W. G., Dean, J., Patrick, T., Parmar, R., Flintoff, K., Robins, P., Harvey, S., Hollis, T., O'Hara, A., Herrick, A. L., Bowden, A. P., Perrino, F. W., Lindahl, T., Barnes, D. E., Crow, Y. J. <strong>Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.</strong> Am. J. Hum. Genet. 80: 811-815, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17357087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17357087</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17357087[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/513443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17357087">Rice et al. (2007)</a> reported a nonconsanguineous Bangladeshi family in which 2 brothers and a sister were affected; the father had been similarly affected throughout his life but was unavailable for study. The onset of the disorder in this family was in early childhood. The patients presented with painful bluish-red swelling of the skin affecting mainly the fingers, toes, ears, helices, and, occasionally, the nose. The lesions were induced by cold temperatures and were significantly worse in the winter months. The lesions could ulcerate; the father and 2 sons were affected. In the affected males, the ulcerations led to a loss of ear cartilage and destruction of the proximal interphalangeal joints and distal toes. Ulcerative lesions healed but left areas of atrophic and hypopigmented skin. Antinuclear antibodies were intermittently raised, and 1 patient exhibited persistently elevated erythrocyte-sedimentation rate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17357087" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By single-nucleotide polymorphism (SNP)-based genomewide linkage analysis in the family described by them, <a href="#5" class="mim-tip-reference" title="Lee-Kirsch, M. A., Gong, M., Schulz, H., Ruschendorf, F., Stein, A., Pfeiffer, C., Ballarini, A., Gahr, M., Hubner, N., Linne, M. <strong>Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.</strong> Am. J. Hum. Genet. 79: 731-737, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960810</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960810[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/507848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960810">Lee-Kirsch et al. (2006)</a> mapped a locus for chilblain lupus to 3p. Haplotype analysis refined the locus to a 13.8-cM interval on chromosome 3p21-p14, flanked by markers <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs704920;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs704920</a> and D3S1300, with a lod score of 5.04. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16960810" 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>The locus to which <a href="#5" class="mim-tip-reference" title="Lee-Kirsch, M. A., Gong, M., Schulz, H., Ruschendorf, F., Stein, A., Pfeiffer, C., Ballarini, A., Gahr, M., Hubner, N., Linne, M. <strong>Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.</strong> Am. J. Hum. Genet. 79: 731-737, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960810</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960810[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/507848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960810">Lee-Kirsch et al. (2006)</a> established linkage of the isolated CHBL phenotype partially overlaps that for type 1 Aicardi-Goutieres syndrome (<a href="/entry/225750">225750</a>). Children affected with Aicardi-Goutieres syndrome suffer from progressive microcephaly and severe cerebral dysfunction associated with calcification of basal ganglia, chronic lymphocytosis, and elevated interferon-alpha (see <a href="/entry/147660">147660</a>) in the spinal fluid. Some patients have chilblain-like lesions that resemble those found in the family reported by <a href="#5" class="mim-tip-reference" title="Lee-Kirsch, M. A., Gong, M., Schulz, H., Ruschendorf, F., Stein, A., Pfeiffer, C., Ballarini, A., Gahr, M., Hubner, N., Linne, M. <strong>Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.</strong> Am. J. Hum. Genet. 79: 731-737, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960810</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960810[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/507848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960810">Lee-Kirsch et al. (2006)</a>, although unaffected parents of children with this autosomal recessive disorder do not show any cutaneous findings. Aicardi-Goutieres syndrome has been suggested to be a form of systemic lupus erythematosus because of the findings of hypocomplementemia and antinuclear autoantibodies in addition to lupus-like skin lesions in some patients. Therefore, <a href="#5" class="mim-tip-reference" title="Lee-Kirsch, M. A., Gong, M., Schulz, H., Ruschendorf, F., Stein, A., Pfeiffer, C., Ballarini, A., Gahr, M., Hubner, N., Linne, M. <strong>Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.</strong> Am. J. Hum. Genet. 79: 731-737, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960810</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960810[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/507848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960810">Lee-Kirsch et al. (2006)</a> suggested that chilblain lupus and Aicardi-Goutieres syndrome may be allelic phenotypes representing different spectrums of the same disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16960810" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a large study of the clinical and molecular phenotype of Aicardi-Goutieres syndrome, <a href="#9" class="mim-tip-reference" title="Rice, G., Patrick, T., Parmar, R., Taylor, C. F., Aeby, A., Aicardi, J., Artuch, R., Montalto, S. A., Bacino, C. A., Barroso, B., Baxter, P., Benko, W. S., and 106 others. <strong>Clinical and molecular phenotype of Aicardi-Goutieres syndrome.</strong> Am. J. Hum. Genet. 81: 713-725, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17846997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17846997</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17846997[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/521373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17846997">Rice et al. (2007)</a> discussed and illustrated chilblain lesions in patients with that disorder in patients from 127 pedigrees. Chilblain lesions were reported in 43% of patients and were associated with mutations in all 4 Aicardi-Goutieres syndrome causative genes: TREX1 (<a href="/entry/606609">606609</a>), RNASEH2A (<a href="/entry/606034">606034</a>), RNASEH2B (<a href="/entry/610326">610326</a>), and RNASEH2C (<a href="/entry/610330">610330</a>). The lesions were usually situated on the feet but sometimes also affected the hands and outer rim of the ears. Many parents reported a direct relationship with cold temperatures, with considerable worsening of the lesions during winter months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17846997" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Rice, G., Newman, W. G., Dean, J., Patrick, T., Parmar, R., Flintoff, K., Robins, P., Harvey, S., Hollis, T., O'Hara, A., Herrick, A. L., Bowden, A. P., Perrino, F. W., Lindahl, T., Barnes, D. E., Crow, Y. J. <strong>Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.</strong> Am. J. Hum. Genet. 80: 811-815, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17357087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17357087</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17357087[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/513443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17357087">Rice et al. (2007)</a> described a heterozygous 1-bp duplication in the TREX1 gene (<a href="/entry/606609#0005">606609.0005</a>) in affected members of a family with chilblain lupus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17357087" 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 affected members of the large 5-generation German family with chilblain lupus previously described by <a href="#5" class="mim-tip-reference" title="Lee-Kirsch, M. A., Gong, M., Schulz, H., Ruschendorf, F., Stein, A., Pfeiffer, C., Ballarini, A., Gahr, M., Hubner, N., Linne, M. <strong>Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.</strong> Am. J. Hum. Genet. 79: 731-737, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960810</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960810[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/507848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960810">Lee-Kirsch et al. (2006)</a>, <a href="#3" class="mim-tip-reference" title="Lee-Kirsch, M. A., Chowdhury, D., Harvey, S., Gong, M., Senenko, L., Engel, K., Pfeiffer, C., Hollis, T., Gahr, M., Perrino, F. W., Lieberman, J., Hubner, N. <strong>A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.</strong> J. Molec. Med. 85: 531-537, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17440703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17440703</a>] [<a href="https://doi.org/10.1007/s00109-007-0199-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17440703">Lee-Kirsch et al. (2007)</a> identified heterozygosity for a missense mutation in the TREX1 gene (D18N; <a href="/entry/606609#0007">606609.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16960810+17440703" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 16-year-old girl with relatively mild Aicardi-Goutieres syndrome (AGS1; <a href="/entry/225750">225750</a>), who was negative for mutation in other known AGS genes, <a href="#1" class="mim-tip-reference" title="Haaxma, C. A., Crow, Y. J., van Steensel, M. A. M., Lammens, M. M. Y., Rice, G. I., Verbeek, M. M., Willemsen, M. A. A. P. <strong>A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutieres syndrome.</strong> Am. J. Med. Genet. 152A: 2612-2617, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20799324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20799324</a>] [<a href="https://doi.org/10.1002/ajmg.a.33620" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20799324">Haaxma et al. (2010)</a> identified heterozygosity for the same D18N mutation in the TREX1 gene that had previously been found in the German family with chilblain lupus by <a href="#4" class="mim-tip-reference" title="Lee-Kirsch, M. A., Gong, M., Chowdhury, D., Senenko, L., Engel, K., Lee, Y.-A., de Silva, U., Bailey, S. L., Witte, T., Vyse, T. J., Kere, J., Pfeiffer, C., and 12 others. <strong>Mutations in the gene encoding the 3-prime-5-prime DNA exonuclease TREX1 are associated with systemic lupus erythematosus.</strong> Nature Genet. 39: 1065-1067, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17660818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17660818</a>] [<a href="https://doi.org/10.1038/ng2091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17660818">Lee-Kirsch et al. (2007)</a>. <a href="#1" class="mim-tip-reference" title="Haaxma, C. A., Crow, Y. J., van Steensel, M. A. M., Lammens, M. M. Y., Rice, G. I., Verbeek, M. M., Willemsen, M. A. A. P. <strong>A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutieres syndrome.</strong> Am. J. Med. Genet. 152A: 2612-2617, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20799324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20799324</a>] [<a href="https://doi.org/10.1002/ajmg.a.33620" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20799324">Haaxma et al. (2010)</a> had no explanation for how the same mutation might cause such distinct phenotypes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17660818+20799324" 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>For a review of the career and clinical observations of Hutchinson, who first described chilblain lupus, see McKusick (<a href="#6" class="mim-tip-reference" title="McKusick, V. A. <strong>The clinical observations of Jonathan Hutchinson.</strong> Am. J. Syph. 36: 101-126, 1952.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14903422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14903422</a>]" pmid="14903422">1952</a>, <a href="#7" class="mim-tip-reference" title="McKusick, V. A. <strong>The Gordon Wilson lecture: the clinical legacy of Jonathan Hutchinson (1828-1913): syndromology and dysmorphology meet genomics.</strong> Trans. Am. Clin. Climatol. Assoc. 116: 15-38, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16555603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16555603</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16555603[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="16555603">2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16555603+14903422" 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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Haaxma, C. A., Crow, Y. J., van Steensel, M. A. M., Lammens, M. M. Y., Rice, G. I., Verbeek, M. M., Willemsen, M. A. A. P.
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<strong>A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutieres syndrome.</strong>
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Am. J. Med. Genet. 152A: 2612-2617, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20799324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20799324</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20799324" 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/ajmg.a.33620" target="_blank">Full Text</a>]
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Hutchinson, J.
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<strong>Harveian lectures on lupus, lecture III: on the various forms of lupus vulgaris and erythematosus.</strong>
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Brit. Med. J. 1: 113-118, 1888.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20752149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20752149</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20752149" 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/10.1136/bmj.1.1412.113" target="_blank">Full Text</a>]
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Lee-Kirsch, M. A., Chowdhury, D., Harvey, S., Gong, M., Senenko, L., Engel, K., Pfeiffer, C., Hollis, T., Gahr, M., Perrino, F. W., Lieberman, J., Hubner, N.
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<strong>A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.</strong>
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J. Molec. Med. 85: 531-537, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17440703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17440703</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17440703" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00109-007-0199-9" target="_blank">Full Text</a>]
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Lee-Kirsch, M. A., Gong, M., Chowdhury, D., Senenko, L., Engel, K., Lee, Y.-A., de Silva, U., Bailey, S. L., Witte, T., Vyse, T. J., Kere, J., Pfeiffer, C., and 12 others.
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<strong>Mutations in the gene encoding the 3-prime-5-prime DNA exonuclease TREX1 are associated with systemic lupus erythematosus.</strong>
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Nature Genet. 39: 1065-1067, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17660818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17660818</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17660818" 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/ng2091" target="_blank">Full Text</a>]
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Lee-Kirsch, M. A., Gong, M., Schulz, H., Ruschendorf, F., Stein, A., Pfeiffer, C., Ballarini, A., Gahr, M., Hubner, N., Linne, M.
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<strong>Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.</strong>
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Am. J. Hum. Genet. 79: 731-737, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960810</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960810[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16960810" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/507848" target="_blank">Full Text</a>]
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McKusick, V. A.
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<strong>The clinical observations of Jonathan Hutchinson.</strong>
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Am. J. Syph. 36: 101-126, 1952.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14903422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14903422</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14903422" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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McKusick, V. A.
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<strong>The Gordon Wilson lecture: the clinical legacy of Jonathan Hutchinson (1828-1913): syndromology and dysmorphology meet genomics.</strong>
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Trans. Am. Clin. Climatol. Assoc. 116: 15-38, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16555603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16555603</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16555603[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16555603" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Rice, G., Newman, W. G., Dean, J., Patrick, T., Parmar, R., Flintoff, K., Robins, P., Harvey, S., Hollis, T., O'Hara, A., Herrick, A. L., Bowden, A. P., Perrino, F. W., Lindahl, T., Barnes, D. E., Crow, Y. J.
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<strong>Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.</strong>
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Am. J. Hum. Genet. 80: 811-815, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17357087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17357087</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17357087[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17357087" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/513443" target="_blank">Full Text</a>]
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Rice, G., Patrick, T., Parmar, R., Taylor, C. F., Aeby, A., Aicardi, J., Artuch, R., Montalto, S. A., Bacino, C. A., Barroso, B., Baxter, P., Benko, W. S., and 106 others.
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<strong>Clinical and molecular phenotype of Aicardi-Goutieres syndrome.</strong>
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Am. J. Hum. Genet. 81: 713-725, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17846997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17846997</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17846997[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17846997" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/521373" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Weston2000" class="mim-anchor"></a>
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<div class="">
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Weston, W. L., Morelli, J. G.
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<strong>Childhood pernio and cryoproteins.</strong>
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Pediat. Derm. 17: 97-99, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10792795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10792795</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10792795" 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/10.1046/j.1525-1470.2000.01722.x" target="_blank">Full Text</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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Marla J. F. O'Neill - updated : 12/16/2010
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Victor A. McKusick - updated : 10/3/2007<br>Marla J. F. O'Neill - updated : 8/30/2007<br>Victor A. McKusick - updated : 3/27/2007
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Victor A. McKusick : 9/27/2006
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carol : 01/11/2022
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carol : 01/11/2012<br>ckniffin : 1/5/2012<br>terry : 12/16/2010<br>alopez : 10/8/2007<br>terry : 10/3/2007<br>carol : 8/30/2007<br>carol : 8/30/2007<br>terry : 8/30/2007<br>carol : 6/1/2007<br>alopez : 4/2/2007<br>terry : 3/27/2007<br>joanna : 10/17/2006<br>alopez : 9/27/2006
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<strong>#</strong> 610448
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CHILBLAIN LUPUS 1; CHBL1
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<strong>ORPHA:</strong> 481662;
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<strong>DO:</strong> 0060386;
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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3p21.31
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Chilblain lupus
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610448
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Autosomal dominant
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3
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TREX1
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606609
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<p>A number sign (#) is used with this entry because of evidence that chilblain lupus-1 (CHBL1) is caused by heterozygous mutation in the TREX1 gene (606609) on chromosome 3p21.</p>
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<strong>Description</strong>
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<p>Chilblain lupus is a cutaneous form of systemic lupus erythematosus (SLE; 152700) characterized by the appearance of painful bluish-red papular or nodular lesions of the skin in acral locations (including the dorsal aspects of fingers and toes, heels, nose, cheeks, ears, and, in some cases, knees) precipitated by cold and wet exposure (summary by Lee-Kirsch et al., 2006). </p><p><strong><em>Genetic Heterogeneity of Chilblain Lupus</em></strong></p><p>
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See also CHBL2 (614415), caused by mutation in the SAMHD1 gene (606754) on chromosome 20q11.</p><p>Mutations in the TREX1 and SAMHD1 genes also cause Aicardi-Goutieres syndrome (AGS1, 225750 and AGS5, 612952, respectively).</p>
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<p>Chilblain lupus, a rare cutaneous form of systemic lupus erythematosus (152700), was first described by Jonathan Hutchinson (1888). Lee-Kirsch et al. (2006) described a large nonconsanguineous German family with 18 members over 5 generations affected with chilblain lupus. Affected individuals presented with painful bluish-red papular or nodular lesions of the skin in acral locations (including the dorsal aspects of fingers and toes, heels, nose, cheeks, ears, and, in some cases, knees) precipitated by cold and wet exposure at temperatures less than 10 degrees centigrade. Sometimes a plaque-like appearance was noted, and ulceration was commonly seen. Although deep ulceration led to necrotic destruction of the distal interphalangeal joint of the left fifth finger in the index patient at age 15 years, the lesions usually healed without scars, occasionally leaving atrophic skin and pigmentary changes. The onset of the skin lesions was in early childhood, and, in most patients, the lesions tended to improve during summer. Mucous membranes and nails were not affected, although subungual lesions were sometimes seen. There was no associated Raynaud phenomenon (see 179600) or photosensitivity. There was no evidence of associated disease of any internal organ (including the CNS), immune deficiency, or malignancy. Arthralgias affected mainly large joints, such as knees and shoulders. There was no increased susceptibility to infection. Histologic findings included a deep inflammatory infiltrate with perivascular distribution and granular deposits of immunoglobulins and complement along the basement membrane. Some affected individuals showed antinuclear antibodies or immune complex formation, whereas cryoglobulins or cold agglutinins were absent. The family study suggested a highly penetrant trait with autosomal dominant inheritance. Chilblain lupus occurs predominantly in adult women and has only rarely been described in children. Before the report of Lee-Kirsch et al. (2006) there had been only one report of familial chilblain lupus, in 2 brothers (Weston and Morelli, 2000). </p><p>Rice et al. (2007) reported a nonconsanguineous Bangladeshi family in which 2 brothers and a sister were affected; the father had been similarly affected throughout his life but was unavailable for study. The onset of the disorder in this family was in early childhood. The patients presented with painful bluish-red swelling of the skin affecting mainly the fingers, toes, ears, helices, and, occasionally, the nose. The lesions were induced by cold temperatures and were significantly worse in the winter months. The lesions could ulcerate; the father and 2 sons were affected. In the affected males, the ulcerations led to a loss of ear cartilage and destruction of the proximal interphalangeal joints and distal toes. Ulcerative lesions healed but left areas of atrophic and hypopigmented skin. Antinuclear antibodies were intermittently raised, and 1 patient exhibited persistently elevated erythrocyte-sedimentation rate. </p>
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>By single-nucleotide polymorphism (SNP)-based genomewide linkage analysis in the family described by them, Lee-Kirsch et al. (2006) mapped a locus for chilblain lupus to 3p. Haplotype analysis refined the locus to a 13.8-cM interval on chromosome 3p21-p14, flanked by markers rs704920 and D3S1300, with a lod score of 5.04. </p>
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<h4>
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<span class="mim-font">
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<strong>Other Features</strong>
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<p>The locus to which Lee-Kirsch et al. (2006) established linkage of the isolated CHBL phenotype partially overlaps that for type 1 Aicardi-Goutieres syndrome (225750). Children affected with Aicardi-Goutieres syndrome suffer from progressive microcephaly and severe cerebral dysfunction associated with calcification of basal ganglia, chronic lymphocytosis, and elevated interferon-alpha (see 147660) in the spinal fluid. Some patients have chilblain-like lesions that resemble those found in the family reported by Lee-Kirsch et al. (2006), although unaffected parents of children with this autosomal recessive disorder do not show any cutaneous findings. Aicardi-Goutieres syndrome has been suggested to be a form of systemic lupus erythematosus because of the findings of hypocomplementemia and antinuclear autoantibodies in addition to lupus-like skin lesions in some patients. Therefore, Lee-Kirsch et al. (2006) suggested that chilblain lupus and Aicardi-Goutieres syndrome may be allelic phenotypes representing different spectrums of the same disease. </p><p>In a large study of the clinical and molecular phenotype of Aicardi-Goutieres syndrome, Rice et al. (2007) discussed and illustrated chilblain lesions in patients with that disorder in patients from 127 pedigrees. Chilblain lesions were reported in 43% of patients and were associated with mutations in all 4 Aicardi-Goutieres syndrome causative genes: TREX1 (606609), RNASEH2A (606034), RNASEH2B (610326), and RNASEH2C (610330). The lesions were usually situated on the feet but sometimes also affected the hands and outer rim of the ears. Many parents reported a direct relationship with cold temperatures, with considerable worsening of the lesions during winter months. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>Rice et al. (2007) described a heterozygous 1-bp duplication in the TREX1 gene (606609.0005) in affected members of a family with chilblain lupus. </p><p>In affected members of the large 5-generation German family with chilblain lupus previously described by Lee-Kirsch et al. (2006), Lee-Kirsch et al. (2007) identified heterozygosity for a missense mutation in the TREX1 gene (D18N; 606609.0007). </p><p>In a 16-year-old girl with relatively mild Aicardi-Goutieres syndrome (AGS1; 225750), who was negative for mutation in other known AGS genes, Haaxma et al. (2010) identified heterozygosity for the same D18N mutation in the TREX1 gene that had previously been found in the German family with chilblain lupus by Lee-Kirsch et al. (2007). Haaxma et al. (2010) had no explanation for how the same mutation might cause such distinct phenotypes. </p>
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<strong>History</strong>
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<span class="mim-text-font">
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<p>For a review of the career and clinical observations of Hutchinson, who first described chilblain lupus, see McKusick (1952, 2005). </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</div>
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Haaxma, C. A., Crow, Y. J., van Steensel, M. A. M., Lammens, M. M. Y., Rice, G. I., Verbeek, M. M., Willemsen, M. A. A. P.
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<strong>A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutieres syndrome.</strong>
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Am. J. Med. Genet. 152A: 2612-2617, 2010.
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[PubMed: 20799324]
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[Full Text: https://doi.org/10.1002/ajmg.a.33620]
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<p class="mim-text-font">
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Hutchinson, J.
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<strong>Harveian lectures on lupus, lecture III: on the various forms of lupus vulgaris and erythematosus.</strong>
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Brit. Med. J. 1: 113-118, 1888.
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[PubMed: 20752149]
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[Full Text: https://doi.org/10.1136/bmj.1.1412.113]
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Lee-Kirsch, M. A., Chowdhury, D., Harvey, S., Gong, M., Senenko, L., Engel, K., Pfeiffer, C., Hollis, T., Gahr, M., Perrino, F. W., Lieberman, J., Hubner, N.
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<strong>A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.</strong>
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J. Molec. Med. 85: 531-537, 2007.
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[PubMed: 17440703]
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[Full Text: https://doi.org/10.1007/s00109-007-0199-9]
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Lee-Kirsch, M. A., Gong, M., Chowdhury, D., Senenko, L., Engel, K., Lee, Y.-A., de Silva, U., Bailey, S. L., Witte, T., Vyse, T. J., Kere, J., Pfeiffer, C., and 12 others.
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<strong>Mutations in the gene encoding the 3-prime-5-prime DNA exonuclease TREX1 are associated with systemic lupus erythematosus.</strong>
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Nature Genet. 39: 1065-1067, 2007.
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[PubMed: 17660818]
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[Full Text: https://doi.org/10.1038/ng2091]
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Lee-Kirsch, M. A., Gong, M., Schulz, H., Ruschendorf, F., Stein, A., Pfeiffer, C., Ballarini, A., Gahr, M., Hubner, N., Linne, M.
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<strong>Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.</strong>
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Am. J. Hum. Genet. 79: 731-737, 2006.
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[PubMed: 16960810]
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[Full Text: https://doi.org/10.1086/507848]
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McKusick, V. A.
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<strong>The clinical observations of Jonathan Hutchinson.</strong>
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Am. J. Syph. 36: 101-126, 1952.
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[PubMed: 14903422]
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McKusick, V. A.
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<strong>The Gordon Wilson lecture: the clinical legacy of Jonathan Hutchinson (1828-1913): syndromology and dysmorphology meet genomics.</strong>
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Trans. Am. Clin. Climatol. Assoc. 116: 15-38, 2005.
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[PubMed: 16555603]
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Rice, G., Newman, W. G., Dean, J., Patrick, T., Parmar, R., Flintoff, K., Robins, P., Harvey, S., Hollis, T., O'Hara, A., Herrick, A. L., Bowden, A. P., Perrino, F. W., Lindahl, T., Barnes, D. E., Crow, Y. J.
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<strong>Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.</strong>
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Am. J. Hum. Genet. 80: 811-815, 2007.
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[PubMed: 17357087]
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[Full Text: https://doi.org/10.1086/513443]
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Rice, G., Patrick, T., Parmar, R., Taylor, C. F., Aeby, A., Aicardi, J., Artuch, R., Montalto, S. A., Bacino, C. A., Barroso, B., Baxter, P., Benko, W. S., and 106 others.
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<strong>Clinical and molecular phenotype of Aicardi-Goutieres syndrome.</strong>
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Am. J. Hum. Genet. 81: 713-725, 2007.
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[PubMed: 17846997]
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[Full Text: https://doi.org/10.1086/521373]
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Weston, W. L., Morelli, J. G.
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<strong>Childhood pernio and cryoproteins.</strong>
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Pediat. Derm. 17: 97-99, 2000.
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[PubMed: 10792795]
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[Full Text: https://doi.org/10.1046/j.1525-1470.2000.01722.x]
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Marla J. F. O'Neill - updated : 12/16/2010<br>Victor A. McKusick - updated : 10/3/2007<br>Marla J. F. O'Neill - updated : 8/30/2007<br>Victor A. McKusick - updated : 3/27/2007
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Victor A. McKusick : 9/27/2006
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carol : 01/11/2022<br>carol : 01/11/2012<br>ckniffin : 1/5/2012<br>terry : 12/16/2010<br>alopez : 10/8/2007<br>terry : 10/3/2007<br>carol : 8/30/2007<br>carol : 8/30/2007<br>terry : 8/30/2007<br>carol : 6/1/2007<br>alopez : 4/2/2007<br>terry : 3/27/2007<br>joanna : 10/17/2006<br>alopez : 9/27/2006
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