3194 lines
219 KiB
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Entry
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- #127400 - DYSCHROMATOSIS SYMMETRICA HEREDITARIA; DSH
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- OMIM
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<p>
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<span class="h4">#127400</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/127400"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS179850"> <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="#populationGenetics">Population Genetics</a>
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<a href="#mapping">Mapping</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="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<div><a href="https://clinicaltrials.gov/search?cond=(DYSCHROMATOSIS SYMMETRICA HEREDITARIA) OR (ADAR)" 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=8626&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/2371" 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=127400[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=41" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span class="small">
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<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:0060257" 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/127400" 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:0060257" 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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<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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<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> 239085000<br />
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<strong>ORPHA:</strong> 41<br />
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<strong>DO:</strong> 0060257<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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127400
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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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DYSCHROMATOSIS SYMMETRICA HEREDITARIA; DSH
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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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DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1; DSH1<br />
|
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RETICULATE ACROPIGMENTATION OF DOHI; RAD<br />
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SYMMETRIC DYSCHROMATOSIS OF THE EXTREMITIES
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</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/1/1194?start=-3&limit=10&highlight=1194">
|
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1q21.3
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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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Dyschromatosis symmetrica hereditaria
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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/127400"> 127400 </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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</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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</td>
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<td>
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<span class="mim-font">
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ADAR
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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/146920"> 146920 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/127400" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS179850" 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">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/127400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/127400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> 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> SKIN, NAILS, & HAIR </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> Skin </em>
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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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- Hyperpigmented/hypopigmented macules (dorsum hands and feet, face) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851984&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851984</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007441" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007441</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">
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<strong> MISCELLANEOUS </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset in infancy and early childhood<br /> -
|
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New skin lesions stop appearing before adolescence<br /> -
|
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Majority of cases in Japan<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the adenosine deaminase, RNA-specific gene (ADAR, <a href="/entry/146920#0001">146920.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
|
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small">
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<div class="row">
|
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
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<h5>
|
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Reticulate pigment disorders
|
|
- <a href="/phenotypicSeries/PS179850">PS179850</a>
|
|
- 6 Entries
|
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</h5>
|
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</div>
|
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</div>
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|
|
<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>
|
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</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/1/1194?start=-3&limit=10&highlight=1194"> 1q21.3 </a>
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/127400"> Dyschromatosis symmetrica hereditaria </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>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/127400"> 127400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/146920"> ADAR </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/146920"> 146920 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/572?start=-3&limit=10&highlight=572"> 3q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615696"> Dowling-Degos disease 4 </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/615696"> 615696 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615618"> POGLUT1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615618"> 615618 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/410?start=-3&limit=10&highlight=410"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/179850"> Dowling-Degos disease 1 </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/179850"> 179850 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> KRT5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> 148040 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/249?start=-3&limit=10&highlight=249"> 15q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615537"> Reticulate acropigmentation of Kitamura </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/615537"> 615537 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602192"> ADAM10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602192"> 602192 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/4?start=-3&limit=10&highlight=4"> 17p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615674"> Dowling-Degos disease 3 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615674"> 615674 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615674"> DDD3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615674"> 615674 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/198?start=-3&limit=10&highlight=198"> 20q11.21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615327"> Dowling-Degos disease 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/615327"> 615327 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607491"> POFUT1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607491"> 607491 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
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|
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</tbody>
|
|
</table>
|
|
</div>
|
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|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
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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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<p>A number sign (#) is used with this entry because dyschromatosis symmetrica hereditaria (DSH) is caused by heterozygous mutation in the DSRAD gene (ADAR; <a href="/entry/146920">146920</a>) on chromosome 1q21.</p>
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<p>Dyschromatosis symmetrica hereditaria (DSH), also called symmetric dyschromatosis of the extremities and symmetric or reticulate acropigmentation of Dohi (<a href="#5" class="mim-tip-reference" title="Komaya, G. <strong>Symmetrische Pigmentanomalie der Extremitaeten.</strong> Arch. Derm. Syph. 147: 389-393, 1924."None>Komaya, 1924</a>), is characterized by hyperpigmented and hypopigmented macules on the face and dorsal aspects of the extremities that appear in infancy or early childhood. DSH generally shows an autosomal dominant pattern of inheritance with high penetrance. The condition has been reported predominantly in Japanese and Chinese individuals.</p><p>Aicardi-Goutieres syndrome-6 (AGS6; <a href="/entry/615010">615010</a>) is an allelic disorder, and patients have been reported who exhibit features of both disorders.</p><p><strong><em>Review of Reticulate Pigment Disorders</em></strong></p><p>
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<a href="#9" class="mim-tip-reference" title="Muller, C. S. L., Tremezaygues, L., Pfohler, C., Vogt, T. <strong>The spectrum of reticulate pigment disorders of the skin revisited.</strong> Europ. J. Derm. 22: 596-604, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23018017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23018017</a>] [<a href="https://doi.org/10.1684/ejd.2012.1829" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23018017">Muller et al. (2012)</a> reviewed the spectrum of reticulate pigment disorders of the skin, tabulating all reported cases of patients with Dowling-Degos disease (see DDD1; <a href="/entry/179850">179850</a>), reticulate acropigmentation of Kitamura (RAK; <a href="/entry/615537">615537</a>), reticulate acropigmentation of Dohi (RAD), Galli-Galli disease (GGD), and Haber syndrome (HS). Of 82 cases, 26 (31.7%) were clinically diagnosed as DDD, 13 (15.9%) as RAD, 11 (13.4%) as GGD, 8 (9.8%) as RAK, and 8 (9.8%) as HS; in addition, 16 (19.5%) of the cases showed overlap between DDD and RAK. <a href="#9" class="mim-tip-reference" title="Muller, C. S. L., Tremezaygues, L., Pfohler, C., Vogt, T. <strong>The spectrum of reticulate pigment disorders of the skin revisited.</strong> Europ. J. Derm. 22: 596-604, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23018017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23018017</a>] [<a href="https://doi.org/10.1684/ejd.2012.1829" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23018017">Muller et al. (2012)</a> also published photographs of an affected individual exhibiting an overlap of clinical features of DDD, GGD, RAD, and RAK. The authors noted that in reticulate disorders of the skin, the main disease entity is DDD, with a subset of cases exhibiting acantholysis (GGD), facial erythema (HS), or an acral distribution (RAD; RAK). <a href="#9" class="mim-tip-reference" title="Muller, C. S. L., Tremezaygues, L., Pfohler, C., Vogt, T. <strong>The spectrum of reticulate pigment disorders of the skin revisited.</strong> Europ. J. Derm. 22: 596-604, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23018017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23018017</a>] [<a href="https://doi.org/10.1684/ejd.2012.1829" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23018017">Muller et al. (2012)</a> concluded that all reticulate pigment diseases of the skin are varying manifestations of a single entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23018017" 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 Reticulate Pigment Disorders</em></strong></p><p>
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For a discussion of genetic heterogeneity of reticulate pigment disorders, see <a href="/entry/179850">179850</a>.</p>
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<p><a href="#11" class="mim-tip-reference" title="Patrizi, A., Manneschi, V., Pini, A., Baioni, E., Ghetti, P. <strong>Dyschromatosis symmetrica hereditaria associated with idiopathic torsion dystonia: a case report.</strong> Acta Derm. Venerol. 74: 135-137, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7911621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7911621</a>] [<a href="https://doi.org/10.2340/0001555574135137" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7911621">Patrizi et al. (1994)</a> described a 9-year-old Caucasian girl with a mixture of hyperpigmented and hypopigmented macules on the backs of the feet. Two brothers had the same lesions, and all had small freckle-like pigmented macules on their face. The father showed large symmetrical hypopigmented vitiligo-like macules which had been present on the backs of his hands and the tops of his feet since childhood. Large symmetrical hypopigmented vitiligo-like macules were found also around his eyes and mouth, on his knees, and on his penis. These hypopigmented macules had progressively widened after the age of 28 years. The 9-year-old daughter had, since the age of 7 years, also shown a neurologic disorder diagnosed as idiopathic torsion dystonia. In all 4 patients, no cellular abnormality in DNA repair was demonstrated, thus excluding a mild form of xeroderma pigmentosum. Torsion dystonia (TYD1; <a href="/entry/128100">128100</a>) maps to 9q34. Because of the family of <a href="#11" class="mim-tip-reference" title="Patrizi, A., Manneschi, V., Pini, A., Baioni, E., Ghetti, P. <strong>Dyschromatosis symmetrica hereditaria associated with idiopathic torsion dystonia: a case report.</strong> Acta Derm. Venerol. 74: 135-137, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7911621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7911621</a>] [<a href="https://doi.org/10.2340/0001555574135137" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7911621">Patrizi et al. (1994)</a>, the DSH gene was hypothesized to be located on chromosome 9, but studies of 3 Japanese families with DSH by <a href="#7" class="mim-tip-reference" title="Kono, M., Miyamura, Y., Matsunaga, J., Tomita, Y. <strong>Exclusion of linkage between dyschromatosis symmetrica hereditaria and chromosome 9.</strong> J. Derm. Sci. 22: 88-95, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10674821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10674821</a>] [<a href="https://doi.org/10.1016/s0923-1811(99)00050-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10674821">Kono et al. (2000)</a> excluded chromosome 9. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7911621+10674821" 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="Oyama, M., Shimizu, H., Ohata, Y., Tajima, S., Nishikawa, T. <strong>Dyschromatosis symmetrica hereditaria (reticulate acropigmentation of Dohi): report of a Japanese family with the condition and a literature review of 185 cases.</strong> Brit. J. Derm. 140: 491-496, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10233273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10233273</a>] [<a href="https://doi.org/10.1046/j.1365-2133.1999.02716.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10233273">Oyama et al. (1999)</a> reported a Japanese family with DSH. The proband was an 11-year-old male, born following a normal pregnancy and delivery. At the age of 1 year, he developed pea-sized pigmented macules on the face. The small hyperpigmented and hypopigmented macules spread gradually on the dorsal aspects of the extremities. The number of skin lesions increased until he was 4 years of age. The mother, a 50-year-old woman, had had an asymptomatic mixture of hyperpigmented and hypopigmented small macules on the backs of her hands and feet as well as scattered small pigmented macules on her face since childhood. Her father, twin brothers of her father, and her grandmother had also had the same skin lesions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10233273" 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="Oyama, M., Shimizu, H., Ohata, Y., Tajima, S., Nishikawa, T. <strong>Dyschromatosis symmetrica hereditaria (reticulate acropigmentation of Dohi): report of a Japanese family with the condition and a literature review of 185 cases.</strong> Brit. J. Derm. 140: 491-496, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10233273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10233273</a>] [<a href="https://doi.org/10.1046/j.1365-2133.1999.02716.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10233273">Oyama et al. (1999)</a> reviewed 185 cases of DSH reported since 1923. The differential diagnosis was considered to include dyschromatosis universalis hereditaria (DUH; <a href="/entry/127500">127500</a>). DUH was once considered to be a generalized form of DSH; however, <a href="#12" class="mim-tip-reference" title="Suenaga, M. <strong>Genetical studies on skin diseases. VII. Dyschromatosis universalis hereditaria in five generations.</strong> Tohoku J. Exp. Med. 55: 373-376, 1952.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14950856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14950856</a>] [<a href="https://doi.org/10.1620/tjem.55.373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14950856">Suenaga (1952)</a> pointed out that skin lesions in DUH appear predominantly on the trunk. DSH can closely resemble a mild form of xeroderma pigmentosum (see <a href="/entry/278700">278700</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10233273+14950856" 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 Italy, <a href="#3" class="mim-tip-reference" title="Danese, P., Zanca, A., Bertazzoni, M. G. <strong>Familial reticulate acropigmentation of Dohi.</strong> J. Am. Acad. Derm. 37: 884-886, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9366859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9366859</a>] [<a href="https://doi.org/10.1016/s0190-9622(97)80018-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9366859">Danese et al. (1997)</a> observed a family with affected members in at least 3 generations. The proband was a 21-year-old white woman who had progressive reticulate hyper- and hypopigmentation on the volar surface of the forearms and the dorsa of the hands. There were no pits or breaks in the epidermal ridge pattern on the palms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9366859" 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="#14" class="mim-tip-reference" title="Urabe, K., Hori, Y. <strong>Dyschromatosis.</strong> Semin. Cutan. Med. Surg. 16: 81-85, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9125769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9125769</a>] [<a href="https://doi.org/10.1016/s1085-5629(97)80039-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9125769">Urabe and Hori (1997)</a> described a Japanese family with DSH with an autosomal recessive inheritance pattern. <a href="#1" class="mim-tip-reference" title="Alfadley, A., Al Ajlan, A., Hainau, B., Pedersen, K.-T., Al Hoqail, I. <strong>Reticulate acropigmentation of Dohi: a case report of autosomal recessive inheritance.</strong> J. Am. Acad. Derm. 43: 113-117, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10863235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10863235</a>] [<a href="https://doi.org/10.1067/mjd.2000.103994" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10863235">Alfadley et al. (2000)</a> described 3 black sibs from the Middle East, a 20-year-old male and his 19- and 18-year-old sisters, who had progressive reticulate hyperpigmented and hypopigmented macules over the dorsa of hands and feet, which began in early childhood. There were no palmar pits or breaks of the epidermal rete ridge pattern, nor was there a family history of any pigmentary skin disease. Findings from 3 skin biopsies from 1 patient were consistent with DSH. These finding suggested to the authors that DSH may be inherited in an autosomal recessive manner. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9125769+10863235" 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="Chao, S.-C., Huang, C.-Y., Yang, M.-H. <strong>A novel nonsense mutation of the DSRAD gene in a Taiwanese family with dyschromatosis symmetrica hereditaria.</strong> Europ. J. Derm. 16: 449-540, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16935814/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16935814</a>]" pmid="16935814">Chao et al. (2006)</a> reported 3 affected members of a Taiwanese family segregating DSH. Strict avoidance of sunlight by the proband and her affected daughter led to improvement in the skin lesions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16935814" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Dong, Y., Xiao, S., Ren, J., Huo, J., Liu, Y., Li, X. <strong>A novel missense mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria.</strong> Europ. J. Derm. 19: 270-272, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19251566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19251566</a>] [<a href="https://doi.org/10.1684/ejd.2009.0639" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19251566">Dong et al. (2009)</a> reported a 12-year-old Chinese girl with DSH and mutation in the ADAR gene. She had asymptomatic hypopigmented small macules on the extensor aspect of her fingers and toes at birth, and later developed a mixture of hyper- and hypopigmented macules that were irregular in size and shape on the dorsal aspect of her hands and feet. She also had freckles on her face. The skin lesions became more pronounced after sun exposure. Her father and paternal grandfather also developed a mixture of hyper- and hypopigmented macules of various sizes on the dorsal extremities in childhood. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19251566" 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>Clinical Variability</em></strong></p><p>
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<a href="#13" class="mim-tip-reference" title="Tojo, K., Sekijima, Y., Suzuki, T., Suzuki, N., Tomita, Y., Yoshida, K., Hashimoto, T., Ikeda, S. <strong>Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation.</strong> Mov. Disord. 21: 1510-1513, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16817193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16817193</a>] [<a href="https://doi.org/10.1002/mds.21011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16817193">Tojo et al. (2006)</a> reported a 22-year-old Japanese woman who had DSH associated with dystonia, mental deterioration, intracranial calcifications (see AGS6, <a href="/entry/615010">615010</a>), and a mutation in the ADAR gene. The proband was noted to have pea-sized pigmented macules on her face by age 3 years, and the small hyper- and hypopigmented macules spread gradually to the dorsal aspect of her extremities. School records and motor function were normal in childhood. She developed neurologic symptoms including gait disturbance and dystonic posturing of the legs at age 17, and became wheelchair-bound by age 22. Intellectual deterioration started at age 21. Brain CT showed calcification of basal ganglia, cerebral white matter, and dentate nucleus of cerebellum. Her father had had typical skin lesions of DSH noted at age 2 years, and he lost the ability to ride a motorbike in adult life with the development of intellectual deterioration. No brain imaging was reported, and he died of calcific aortic valve stenosis at Age 38. The authors noted the report of <a href="#11" class="mim-tip-reference" title="Patrizi, A., Manneschi, V., Pini, A., Baioni, E., Ghetti, P. <strong>Dyschromatosis symmetrica hereditaria associated with idiopathic torsion dystonia: a case report.</strong> Acta Derm. Venerol. 74: 135-137, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7911621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7911621</a>] [<a href="https://doi.org/10.2340/0001555574135137" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7911621">Patrizi et al. (1994)</a> of a 9-year-old Caucasian girl with DSH who developed torsion dystonia at age 7 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7911621+16817193" 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="Kondo, T., Suzuki, T., Ito, S., Kono, M., Negoro, T., Tomita, Y. <strong>Dyschromatosis symmetrica hereditaria associated with neurological disorders.</strong> J. Derm. 35: 662-666, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19017046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19017046</a>] [<a href="https://doi.org/10.1111/j.1346-8138.2008.00540.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19017046">Kondo et al. (2008)</a> described an 11-year-old Japanese boy with DSH associated with dystonia, mental deterioration, brain calcification, and mutation in the ADAR gene. He developed neurologic features at age 3 years, including axial torsion dystonia and loss of intellectual skills. Brain CT showed basal ganglia, cerebral white matter, and dentate nucleus calcification. His mother had faint hypopigmented macules on the dorsa of the fingers, but no neurologic features were reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19017046" 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="Miyamura, Y., Suzuki, T., Kono, M., Inagaki, K., Ito, S., Suzuki, N., Tomita, Y. <strong>Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria.</strong> Am. J. Hum. Genet. 73: 693-699, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12916015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12916015</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12916015[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/10.1086/378209" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12916015">Miyamura et al. (2003)</a> stated that the prevalence of DSH in the Japanese population is estimated to be 1.5 per 100,000. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12916015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#17" class="mim-tip-reference" title="Zhang, X.-J., Gao, M., Li, M., Li, M., Li, C.-R., Cui, Y., He, P.-P., Xu, S.-J., Xiong, X.-Y., Wang, Z.-X., Yuan, W.-T., Yang, S., Huang, W. <strong>Identification of a locus for dyschromatosis symmetrica hereditaria at chromosome 1q11-1q21.</strong> J. Invest. Derm. 120: 776-780, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12713580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12713580</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2003.12130.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12713580">Zhang et al. (2003)</a> performed a genomewide search in 2 large Chinese families with DSH and identified a locus at chromosome 1q11-q21 with a cumulative maximum 2-point lod score of 8.85 at marker D1S2343 (recombination fraction = 0.00). Haplotype analyses indicated that the disease gene is located within the 11.6-cM region between markers D1S2696 and D1S2635. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12713580" 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="Miyamura, Y., Suzuki, T., Kono, M., Inagaki, K., Ito, S., Suzuki, N., Tomita, Y. <strong>Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria.</strong> Am. J. Hum. Genet. 73: 693-699, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12916015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12916015</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12916015[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/10.1086/378209" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12916015">Miyamura et al. (2003)</a> performed a genomewide search in 3 families with DSH and mapped the DSH locus to 1q21.3, within a 500-kb critical region bounded proximally by IL6R (<a href="/entry/147880">147880</a>) and distally by KCNN3 (<a href="/entry/602983">602983</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12916015" 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="Miyamura, Y., Suzuki, T., Kono, M., Inagaki, K., Ito, S., Suzuki, N., Tomita, Y. <strong>Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria.</strong> Am. J. Hum. Genet. 73: 693-699, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12916015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12916015</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12916015[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/10.1086/378209" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12916015">Miyamura et al. (2003)</a> suggested that the patients reported by <a href="#16" class="mim-tip-reference" title="Xing, Q., Wang, M., Chen, X., Feng, G., Ji, H., Yang, J., Gao, J., Qin, W., Qian, X., Wu, S., He, L. <strong>A gene locus responsible for dyschromatosis symmetrica hereditaria (DSH) maps to chromosome 6q24.2-q25.2.</strong> Am. J. Hum. Genet. 73: 377-382, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12815562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12815562</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12815562[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/10.1086/377007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12815562">Xing et al. (2003)</a> showing linkage to 6q24.2-q25.2 in fact had dyschromatosis universalis hereditaria, as indicated by photographs showing dyschromatosis over most of their entire bodies. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12815562+12916015" 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 transmission pattern of DSH in the families reported by <a href="#8" class="mim-tip-reference" title="Miyamura, Y., Suzuki, T., Kono, M., Inagaki, K., Ito, S., Suzuki, N., Tomita, Y. <strong>Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria.</strong> Am. J. Hum. Genet. 73: 693-699, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12916015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12916015</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12916015[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/10.1086/378209" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12916015">Miyamura et al. (2003)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12916015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 4 Japanese families segregating DSH, <a href="#8" class="mim-tip-reference" title="Miyamura, Y., Suzuki, T., Kono, M., Inagaki, K., Ito, S., Suzuki, N., Tomita, Y. <strong>Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria.</strong> Am. J. Hum. Genet. 73: 693-699, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12916015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12916015</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12916015[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/10.1086/378209" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12916015">Miyamura et al. (2003)</a> identified heterozygous mutations in the ADAR gene (<a href="/entry/146920#0001">146920.0001</a>-<a href="/entry/146920#0004">146920.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12916015" 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 6 Chinese multigeneration families and 2 sporadic patients with DSH, <a href="#18" class="mim-tip-reference" title="Zhang, X.-J., He, P.-P., Li, M., He, C.-D., Yan, K.-L., Cui, Y., Yang, S., Zhang, K.-Y., Gao, M., Chen, J.-J., Li, C.-R., Jin, L., Chen, H.-D., Xu, S.-J., Huang, W. <strong>Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria.</strong> Hum. Mutat. 23: 629-630, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15146470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15146470</a>] [<a href="https://doi.org/10.1002/humu.9246" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15146470">Zhang et al. (2004)</a> identified 7 novel heterozygous mutations in the ADAR gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15146470" 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 22-year-old Japanese woman who had DSH associated with dystonia, mental deterioration, and intracranial calcifications, <a href="#13" class="mim-tip-reference" title="Tojo, K., Sekijima, Y., Suzuki, T., Suzuki, N., Tomita, Y., Yoshida, K., Hashimoto, T., Ikeda, S. <strong>Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation.</strong> Mov. Disord. 21: 1510-1513, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16817193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16817193</a>] [<a href="https://doi.org/10.1002/mds.21011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16817193">Tojo et al. (2006)</a> identified heterozygosity for a missense mutation in the ADAR gene (G1007R; <a href="/entry/146920#0011">146920.0011</a>). Her unaffected mother and sister did not carry the mutation; DNA was unavailable from her affected deceased father. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16817193" 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 Taiwanese woman with DSH, <a href="#2" class="mim-tip-reference" title="Chao, S.-C., Huang, C.-Y., Yang, M.-H. <strong>A novel nonsense mutation of the DSRAD gene in a Taiwanese family with dyschromatosis symmetrica hereditaria.</strong> Europ. J. Derm. 16: 449-540, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16935814/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16935814</a>]" pmid="16935814">Chao et al. (2006)</a> identified heterozygosity for a nonsense mutation in the ADAR gene (Q693X; <a href="/entry/146920#0005">146920.0005</a>) that segregated with disease in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16935814" 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 a large 5-generation Chinese family with DSH, <a href="#15" class="mim-tip-reference" title="Xing, Q., Shu, A., Yu, L., Zhang, A., Du, J., Xuan, J., Wang, L., He, G., Meng, J., Li, X., Feng, G., He, L. <strong>Novel deletion mutation of DSRAD in a Chinese family with dyschromatosis symmetrica hereditaria (DSH).</strong> Europ. J. Derm. 17: 247-248, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17478391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17478391</a>] [<a href="https://doi.org/10.1684/ejd.2007.0161" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17478391">Xing et al. (2007)</a> identified heterozygosity for a 2-bp deletion in the ADAR gene (<a href="/entry/146920#0006">146920.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17478391" 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 an 11-year-old Japanese boy who had DSH associated with dystonia, mental deterioration, and intracranial calcifications, <a href="#6" class="mim-tip-reference" title="Kondo, T., Suzuki, T., Ito, S., Kono, M., Negoro, T., Tomita, Y. <strong>Dyschromatosis symmetrica hereditaria associated with neurological disorders.</strong> J. Derm. 35: 662-666, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19017046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19017046</a>] [<a href="https://doi.org/10.1111/j.1346-8138.2008.00540.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19017046">Kondo et al. (2008)</a> identified heterozygosity for the previously reported G1007R mutation in the ADAR gene (<a href="/entry/146920#0011">146920.0011</a>). His mother, who had skin lesions but no neurologic features, was also heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19017046" 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 12-year-old Chinese girl with DSH and her affected father and paternal grandfather, <a href="#4" class="mim-tip-reference" title="Dong, Y., Xiao, S., Ren, J., Huo, J., Liu, Y., Li, X. <strong>A novel missense mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria.</strong> Europ. J. Derm. 19: 270-272, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19251566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19251566</a>] [<a href="https://doi.org/10.1684/ejd.2009.0639" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19251566">Dong et al. (2009)</a> sequenced the ADAR gene and identified heterozygosity for an H958R substitution in all 3. The mutation was not found in the proband's unaffected paternal uncle and aunt, or in 50 unrelated Chinese controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19251566" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Reticulate acropigmentation of Dohi: a case report of autosomal recessive inheritance.</strong>
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J. Am. Acad. Derm. 43: 113-117, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10863235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10863235</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10863235" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Europ. J. Derm. 16: 449-540, 2006.
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[<a href="https://doi.org/10.1684/ejd.2009.0639" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1346-8138.2008.00540.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0923-1811(99)00050-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/378209" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1684/ejd.2012.1829" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1046/j.1365-2133.1999.02716.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/mds.21011" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s1085-5629(97)80039-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1684/ejd.2007.0161" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/377007" target="_blank">Full Text</a>]
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<a id="Zhang2003" class="mim-anchor"></a>
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Zhang, X.-J., Gao, M., Li, M., Li, M., Li, C.-R., Cui, Y., He, P.-P., Xu, S.-J., Xiong, X.-Y., Wang, Z.-X., Yuan, W.-T., Yang, S., Huang, W.
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[<a href="https://doi.org/10.1046/j.1523-1747.2003.12130.x" target="_blank">Full Text</a>]
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<a id="Zhang2004" class="mim-anchor"></a>
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Zhang, X.-J., He, P.-P., Li, M., He, C.-D., Yan, K.-L., Cui, Y., Yang, S., Zhang, K.-Y., Gao, M., Chen, J.-J., Li, C.-R., Jin, L., Chen, H.-D., Xu, S.-J., Huang, W.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15146470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15146470</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15146470" 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/humu.9246" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 06/13/2024
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Victor A. McKusick - updated : 9/5/2003<br>Victor A. McKusick - updated : 8/8/2003<br>Gary A. Bellus - updated : 5/19/2003<br>Gary A. Bellus - updated : 4/4/2001<br>Victor A. McKusick - updated : 1/5/2000<br>Victor A. McKusick - updated : 5/13/1999
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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carol : 06/13/2024
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alopez : 06/08/2023<br>carol : 12/13/2022<br>carol : 07/13/2019<br>carol : 11/25/2013<br>mcolton : 11/20/2013<br>carol : 9/9/2013<br>terry : 3/21/2012<br>carol : 1/2/2008<br>carol : 6/20/2007<br>carol : 6/20/2007<br>tkritzer : 4/15/2004<br>tkritzer : 4/14/2004<br>terry : 4/6/2004<br>alopez : 9/5/2003<br>terry : 9/5/2003<br>mgross : 8/12/2003<br>terry : 8/8/2003<br>alopez : 5/19/2003<br>alopez : 4/4/2001<br>terry : 1/5/2000<br>mgross : 5/20/1999<br>mgross : 5/18/1999<br>terry : 5/13/1999<br>mimadm : 9/24/1994<br>jason : 7/12/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988
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<strong>#</strong> 127400
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DYSCHROMATOSIS SYMMETRICA HEREDITARIA; DSH
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<em>Alternative titles; symbols</em>
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DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1; DSH1<br />
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RETICULATE ACROPIGMENTATION OF DOHI; RAD<br />
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SYMMETRIC DYSCHROMATOSIS OF THE EXTREMITIES
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<strong>SNOMEDCT:</strong> 239085000;
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<strong>ORPHA:</strong> 41;
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<strong>DO:</strong> 0060257;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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1q21.3
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<span class="mim-font">
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Dyschromatosis symmetrica hereditaria
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<span class="mim-font">
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127400
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Autosomal dominant
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<span class="mim-font">
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3
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ADAR
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146920
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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 dyschromatosis symmetrica hereditaria (DSH) is caused by heterozygous mutation in the DSRAD gene (ADAR; 146920) on chromosome 1q21.</p>
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<strong>Description</strong>
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<p>Dyschromatosis symmetrica hereditaria (DSH), also called symmetric dyschromatosis of the extremities and symmetric or reticulate acropigmentation of Dohi (Komaya, 1924), is characterized by hyperpigmented and hypopigmented macules on the face and dorsal aspects of the extremities that appear in infancy or early childhood. DSH generally shows an autosomal dominant pattern of inheritance with high penetrance. The condition has been reported predominantly in Japanese and Chinese individuals.</p><p>Aicardi-Goutieres syndrome-6 (AGS6; 615010) is an allelic disorder, and patients have been reported who exhibit features of both disorders.</p><p><strong><em>Review of Reticulate Pigment Disorders</em></strong></p><p>
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Muller et al. (2012) reviewed the spectrum of reticulate pigment disorders of the skin, tabulating all reported cases of patients with Dowling-Degos disease (see DDD1; 179850), reticulate acropigmentation of Kitamura (RAK; 615537), reticulate acropigmentation of Dohi (RAD), Galli-Galli disease (GGD), and Haber syndrome (HS). Of 82 cases, 26 (31.7%) were clinically diagnosed as DDD, 13 (15.9%) as RAD, 11 (13.4%) as GGD, 8 (9.8%) as RAK, and 8 (9.8%) as HS; in addition, 16 (19.5%) of the cases showed overlap between DDD and RAK. Muller et al. (2012) also published photographs of an affected individual exhibiting an overlap of clinical features of DDD, GGD, RAD, and RAK. The authors noted that in reticulate disorders of the skin, the main disease entity is DDD, with a subset of cases exhibiting acantholysis (GGD), facial erythema (HS), or an acral distribution (RAD; RAK). Muller et al. (2012) concluded that all reticulate pigment diseases of the skin are varying manifestations of a single entity. </p><p><strong><em>Genetic Heterogeneity of Reticulate Pigment Disorders</em></strong></p><p>
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For a discussion of genetic heterogeneity of reticulate pigment disorders, see 179850.</p>
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<strong>Clinical Features</strong>
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<p>Patrizi et al. (1994) described a 9-year-old Caucasian girl with a mixture of hyperpigmented and hypopigmented macules on the backs of the feet. Two brothers had the same lesions, and all had small freckle-like pigmented macules on their face. The father showed large symmetrical hypopigmented vitiligo-like macules which had been present on the backs of his hands and the tops of his feet since childhood. Large symmetrical hypopigmented vitiligo-like macules were found also around his eyes and mouth, on his knees, and on his penis. These hypopigmented macules had progressively widened after the age of 28 years. The 9-year-old daughter had, since the age of 7 years, also shown a neurologic disorder diagnosed as idiopathic torsion dystonia. In all 4 patients, no cellular abnormality in DNA repair was demonstrated, thus excluding a mild form of xeroderma pigmentosum. Torsion dystonia (TYD1; 128100) maps to 9q34. Because of the family of Patrizi et al. (1994), the DSH gene was hypothesized to be located on chromosome 9, but studies of 3 Japanese families with DSH by Kono et al. (2000) excluded chromosome 9. </p><p>Oyama et al. (1999) reported a Japanese family with DSH. The proband was an 11-year-old male, born following a normal pregnancy and delivery. At the age of 1 year, he developed pea-sized pigmented macules on the face. The small hyperpigmented and hypopigmented macules spread gradually on the dorsal aspects of the extremities. The number of skin lesions increased until he was 4 years of age. The mother, a 50-year-old woman, had had an asymptomatic mixture of hyperpigmented and hypopigmented small macules on the backs of her hands and feet as well as scattered small pigmented macules on her face since childhood. Her father, twin brothers of her father, and her grandmother had also had the same skin lesions. </p><p>Oyama et al. (1999) reviewed 185 cases of DSH reported since 1923. The differential diagnosis was considered to include dyschromatosis universalis hereditaria (DUH; 127500). DUH was once considered to be a generalized form of DSH; however, Suenaga (1952) pointed out that skin lesions in DUH appear predominantly on the trunk. DSH can closely resemble a mild form of xeroderma pigmentosum (see 278700). </p><p>In Italy, Danese et al. (1997) observed a family with affected members in at least 3 generations. The proband was a 21-year-old white woman who had progressive reticulate hyper- and hypopigmentation on the volar surface of the forearms and the dorsa of the hands. There were no pits or breaks in the epidermal ridge pattern on the palms. </p><p>Urabe and Hori (1997) described a Japanese family with DSH with an autosomal recessive inheritance pattern. Alfadley et al. (2000) described 3 black sibs from the Middle East, a 20-year-old male and his 19- and 18-year-old sisters, who had progressive reticulate hyperpigmented and hypopigmented macules over the dorsa of hands and feet, which began in early childhood. There were no palmar pits or breaks of the epidermal rete ridge pattern, nor was there a family history of any pigmentary skin disease. Findings from 3 skin biopsies from 1 patient were consistent with DSH. These finding suggested to the authors that DSH may be inherited in an autosomal recessive manner. </p><p>Chao et al. (2006) reported 3 affected members of a Taiwanese family segregating DSH. Strict avoidance of sunlight by the proband and her affected daughter led to improvement in the skin lesions. </p><p>Dong et al. (2009) reported a 12-year-old Chinese girl with DSH and mutation in the ADAR gene. She had asymptomatic hypopigmented small macules on the extensor aspect of her fingers and toes at birth, and later developed a mixture of hyper- and hypopigmented macules that were irregular in size and shape on the dorsal aspect of her hands and feet. She also had freckles on her face. The skin lesions became more pronounced after sun exposure. Her father and paternal grandfather also developed a mixture of hyper- and hypopigmented macules of various sizes on the dorsal extremities in childhood. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Tojo et al. (2006) reported a 22-year-old Japanese woman who had DSH associated with dystonia, mental deterioration, intracranial calcifications (see AGS6, 615010), and a mutation in the ADAR gene. The proband was noted to have pea-sized pigmented macules on her face by age 3 years, and the small hyper- and hypopigmented macules spread gradually to the dorsal aspect of her extremities. School records and motor function were normal in childhood. She developed neurologic symptoms including gait disturbance and dystonic posturing of the legs at age 17, and became wheelchair-bound by age 22. Intellectual deterioration started at age 21. Brain CT showed calcification of basal ganglia, cerebral white matter, and dentate nucleus of cerebellum. Her father had had typical skin lesions of DSH noted at age 2 years, and he lost the ability to ride a motorbike in adult life with the development of intellectual deterioration. No brain imaging was reported, and he died of calcific aortic valve stenosis at Age 38. The authors noted the report of Patrizi et al. (1994) of a 9-year-old Caucasian girl with DSH who developed torsion dystonia at age 7 years. </p><p>Kondo et al. (2008) described an 11-year-old Japanese boy with DSH associated with dystonia, mental deterioration, brain calcification, and mutation in the ADAR gene. He developed neurologic features at age 3 years, including axial torsion dystonia and loss of intellectual skills. Brain CT showed basal ganglia, cerebral white matter, and dentate nucleus calcification. His mother had faint hypopigmented macules on the dorsa of the fingers, but no neurologic features were reported. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Population 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>Miyamura et al. (2003) stated that the prevalence of DSH in the Japanese population is estimated to be 1.5 per 100,000. </p>
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<div>
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<span class="mim-font">
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<strong>Mapping</strong>
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</h4>
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<span class="mim-text-font">
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<p>Zhang et al. (2003) performed a genomewide search in 2 large Chinese families with DSH and identified a locus at chromosome 1q11-q21 with a cumulative maximum 2-point lod score of 8.85 at marker D1S2343 (recombination fraction = 0.00). Haplotype analyses indicated that the disease gene is located within the 11.6-cM region between markers D1S2696 and D1S2635. </p><p>Miyamura et al. (2003) performed a genomewide search in 3 families with DSH and mapped the DSH locus to 1q21.3, within a 500-kb critical region bounded proximally by IL6R (147880) and distally by KCNN3 (602983). </p><p>Miyamura et al. (2003) suggested that the patients reported by Xing et al. (2003) showing linkage to 6q24.2-q25.2 in fact had dyschromatosis universalis hereditaria, as indicated by photographs showing dyschromatosis over most of their entire bodies. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of DSH in the families reported by Miyamura et al. (2003) was consistent with autosomal dominant inheritance. </p>
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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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<p>In affected members of 4 Japanese families segregating DSH, Miyamura et al. (2003) identified heterozygous mutations in the ADAR gene (146920.0001-146920.0004). </p><p>In affected members of 6 Chinese multigeneration families and 2 sporadic patients with DSH, Zhang et al. (2004) identified 7 novel heterozygous mutations in the ADAR gene. </p><p>In a 22-year-old Japanese woman who had DSH associated with dystonia, mental deterioration, and intracranial calcifications, Tojo et al. (2006) identified heterozygosity for a missense mutation in the ADAR gene (G1007R; 146920.0011). Her unaffected mother and sister did not carry the mutation; DNA was unavailable from her affected deceased father. </p><p>In a Taiwanese woman with DSH, Chao et al. (2006) identified heterozygosity for a nonsense mutation in the ADAR gene (Q693X; 146920.0005) that segregated with disease in the family. </p><p>In affected members of a large 5-generation Chinese family with DSH, Xing et al. (2007) identified heterozygosity for a 2-bp deletion in the ADAR gene (146920.0006). </p><p>In an 11-year-old Japanese boy who had DSH associated with dystonia, mental deterioration, and intracranial calcifications, Kondo et al. (2008) identified heterozygosity for the previously reported G1007R mutation in the ADAR gene (146920.0011). His mother, who had skin lesions but no neurologic features, was also heterozygous for the mutation. </p><p>In a 12-year-old Chinese girl with DSH and her affected father and paternal grandfather, Dong et al. (2009) sequenced the ADAR gene and identified heterozygosity for an H958R substitution in all 3. The mutation was not found in the proband's unaffected paternal uncle and aunt, or in 50 unrelated Chinese controls. </p>
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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 class="mim-text-font">
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Alfadley, A., Al Ajlan, A., Hainau, B., Pedersen, K.-T., Al Hoqail, I.
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<strong>Reticulate acropigmentation of Dohi: a case report of autosomal recessive inheritance.</strong>
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J. Am. Acad. Derm. 43: 113-117, 2000.
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[PubMed: 10863235]
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[Full Text: https://doi.org/10.1067/mjd.2000.103994]
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<p class="mim-text-font">
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Chao, S.-C., Huang, C.-Y., Yang, M.-H.
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<strong>A novel nonsense mutation of the DSRAD gene in a Taiwanese family with dyschromatosis symmetrica hereditaria.</strong>
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Europ. J. Derm. 16: 449-540, 2006.
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[PubMed: 16935814]
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<li>
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