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Entry
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- #127550 - DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1; DKCA1
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- OMIM
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<p>
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<span class="h4">#127550</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/127550"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS127550"> <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="#inheritance">Inheritance</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=477&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK22301/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/2383" 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=127550[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=1775" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0070014" 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/127550" 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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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 1775<br />
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<strong>DO:</strong> 0070014<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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127550
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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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DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1; DKCA1
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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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DYSKERATOSIS CONGENITA, SCOGGINS TYPE
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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">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
|
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Phenotype <br /> MIM number
|
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</th>
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<th>
|
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
|
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Gene/Locus
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</th>
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<th>
|
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/3/848?start=-3&limit=10&highlight=848">
|
|
3q26.2
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</a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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Dyskeratosis congenita, autosomal dominant 1
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</span>
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</td>
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/127550"> 127550 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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TERC
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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/602322"> 602322 </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/127550" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
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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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|
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<a href="/phenotypicSeries/PS127550" class="btn btn-info" role="button"> Phenotypic Series </a>
|
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|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
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<span class="caret"></span>
|
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/127550" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/127550" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
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</div>
|
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|
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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">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
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|
|
</div>
|
|
|
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</div>
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|
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|
|
|
|
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|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Leukoplakia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50978000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50978000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/274134003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">274134003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023531&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023531</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dental caries <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80967001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80967001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K02</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K02.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K02.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/521.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">521.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/521.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">521.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011334</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000670" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000670</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000670" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000670</a>]</span><br /> -
|
|
Early tooth loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42756003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42756003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0232513&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0232513</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006480" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006480</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006480" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006480</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Lung </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pulmonary fibrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51615001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51615001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034069&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034069</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002206" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002206</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002206" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002206</a>]</span><br /> -
|
|
Interstitial pneumonitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1306604007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1306604007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64667001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64667001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J84.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J84.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/J84.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J84.89</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5887144&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5887144</a>, <a href="https://bioportal.bioontology.org/search?q=C0206061&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0206061</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006515" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006515</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006515" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006515</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Liver cirrhosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/19943007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">19943007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.60</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023890&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023890</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001394</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001394</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Esophageal strictures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63305008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63305008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K22.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K22.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/530.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">530.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551650&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551650</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002043" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002043</a>]</span><br /> -
|
|
Intraepithelial lymphocytosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2697799&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2697799</a>]</span><br /> -
|
|
Atrophic gastritis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84568007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84568007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K29.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K29.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/535.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">535.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017154&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017154</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002582" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002582</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002582" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002582</a>]</span><br /> -
|
|
Parietal cell dropout <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829364&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829364</a>]</span><br /> -
|
|
Villous blunting <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013899&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013899</a>]</span><br /> -
|
|
Epithelial cell apoptosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3895894&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3895894</a>, <a href="https://bioportal.bioontology.org/search?q=C5436755&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5436755</a>]</span><br /> -
|
|
Colonic disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/128524007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">128524007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009373&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009373</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</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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- Reticulate hyperpigmentation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851972&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851972</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007588" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007588</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007588" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007588</a>]</span><br /> -
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Skin atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400190005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400190005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L90.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L90.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004334" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004334</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004334" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004334</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Nails </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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- Nail dystrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87065009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87065009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L60.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L60.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221260</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008404" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008404</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008404" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008404</a>]</span><br /> -
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Nail ridging <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271768001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271768001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423820&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423820</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001807" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001807</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001807" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001807</a>]</span><br /> -
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|
Nail pitting <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/89704006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">89704006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0150993&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0150993</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001803" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001803</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001803" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001803</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<em> Hair </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
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|
|
- Hair loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278040002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278040002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56317004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56317004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L65.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L65.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/704.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/704.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3898953&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3898953</a>, <a href="https://bioportal.bioontology.org/search?q=C0002170&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002170</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001596" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001596</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002293" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002293</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001596" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001596</a>]</span><br /> -
|
|
Premature graying <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/387833009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">387833009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L67.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L67.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263498&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263498</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002216" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002216</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002216" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002216</a>]</span><br /> -
|
|
Sparse hair <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162675003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162675003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5551005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5551005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008070" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008070</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008070" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008070</a>]</span><br /> -
|
|
Alopecia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278040002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278040002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56317004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56317004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L65.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L65.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/704.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/704.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002170&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002170</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001596" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001596</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002293" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002293</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001596" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001596</a>]</span><br />
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</span>
|
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</div>
|
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> HEMATOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
|
<span class="mim-font">
|
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|
|
- Bone marrow failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/127034005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">127034005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/167928002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">167928002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D61.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D61.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/284.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">284.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855710&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855710</a>, <a href="https://bioportal.bioontology.org/search?q=C0030312&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030312</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001876" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001876</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0005528" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005528</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005528" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005528</a>]</span><br /> -
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|
Aplastic anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/306058006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">306058006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/304132006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">304132006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D61.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D61.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/284.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">284.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002874</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001915" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001915</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001915" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001915</a>]</span><br /> -
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Lymphopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48813009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48813009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.810" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.810</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/288.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0853986&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853986</a>, <a href="https://bioportal.bioontology.org/search?q=C0024312&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024312</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001888" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001888</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001888" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001888</a>]</span><br /> -
|
|
Pancytopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/127034005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">127034005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D61.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D61.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/284.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">284.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030312&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030312</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001876" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001876</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001876" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001876</a>]</span><br /> -
|
|
Anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271737000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271737000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D64.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D64.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/285.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">285.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002871&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002871</a>, <a href="https://bioportal.bioontology.org/search?q=C1000483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1000483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span><br /> -
|
|
Thrombocytopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/415116008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">415116008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302215000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302215000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D69.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D69.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/287.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">287.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392386&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392386</a>, <a href="https://bioportal.bioontology.org/search?q=C0040034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span><br /> -
|
|
Elevated MCV <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165454002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165454002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0302845&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0302845</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005518</a>]</span><br /> -
|
|
Hypoplastic myelodysplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851971&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851971</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002863" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002863</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002863" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002863</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
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|
|
</div>
|
|
|
|
</div>
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEOPLASIA </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Squamous cell carcinoma of the skin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254651007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254651007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0553723&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0553723</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006739</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006739</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
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</div>
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|
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Shortened telomeres <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1515263&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1515263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031413" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031413</a>]</span><br />
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|
|
</span>
|
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</div>
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|
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</div>
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|
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</div>
|
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|
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|
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|
|
<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Highly variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839039&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839039</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
|
|
Variable penetrance and expressivity<br /> -
|
|
Genetic anticipation associated with progressive telomere shortening<br /> -
|
|
Skin manifestations may not be present<br /> -
|
|
Median age of diagnosis is 28 years<br /> -
|
|
Median survival is > 50 years<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the telomerase RNA component gene (TERC, <a href="/entry/602322#0001">602322.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Dyskeratosis congenita
|
|
- <a href="/phenotypicSeries/PS127550">PS127550</a>
|
|
- 16 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/936?start=-3&limit=10&highlight=936"> 1p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620133"> Dyskeratosis congenita, autosomal recessive 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/620133"> 620133 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609683"> DCLRE1B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609683"> 609683 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/848?start=-3&limit=10&highlight=848"> 3q26.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/127550"> Dyskeratosis congenita, autosomal dominant 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/127550"> 127550 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602322"> TERC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602322"> 602322 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/22?start=-3&limit=10&highlight=22"> 5p15.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613989"> Dyskeratosis congenita, autosomal dominant 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/613989"> 613989 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187270"> TERT </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187270"> 187270 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/22?start=-3&limit=10&highlight=22"> 5p15.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613989"> Dyskeratosis congenita, autosomal recessive 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/613989"> 613989 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187270"> TERT </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187270"> 187270 </a>
|
|
</span>
|
|
</td>
|
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</tr>
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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/5/820?start=-3&limit=10&highlight=820"> 5q35.3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/613987"> Dyskeratosis congenita, autosomal recessive 2 </a>
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</span>
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</td>
|
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
|
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</td>
|
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<td>
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<span class="mim-font">
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<a href="/entry/613987"> 613987 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/606470"> NHP2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/606470"> 606470 </a>
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</span>
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</td>
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</tr>
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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/14/124?start=-3&limit=10&highlight=124"> 14q12 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/268130"> Revesz syndrome </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/268130"> 268130 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/604319"> TINF2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/604319"> 604319 </a>
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</span>
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</td>
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</tr>
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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/14/124?start=-3&limit=10&highlight=124"> 14q12 </a>
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/613990"> Dyskeratosis congenita, autosomal dominant 3 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613990"> 613990 </a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/604319"> TINF2 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/604319"> 604319 </a>
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</span>
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</td>
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</tr>
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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<a href="/geneMap/15/72?start=-3&limit=10&highlight=72"> 15q14 </a>
|
|
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/224230"> ?Dyskeratosis congenita, autosomal recessive 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
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</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/224230"> 224230 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606471"> NOP10 </a>
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606471"> 606471 </a>
|
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</span>
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</td>
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/209?start=-3&limit=10&highlight=209"> 16p13.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616353"> Dyskeratosis congenita, autosomal recessive 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/616353"> 616353 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604212"> PARN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604212"> 604212 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/554?start=-3&limit=10&highlight=554"> 16q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616553"> ?Dyskeratosis congenita, autosomal dominant 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/616553"> 616553 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609377"> ACD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609377"> 609377 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/554?start=-3&limit=10&highlight=554"> 16q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616553"> ?Dyskeratosis congenita, autosomal recessive 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/616553"> 616553 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609377"> ACD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609377"> 609377 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/176?start=-3&limit=10&highlight=176"> 17p13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613988"> Dyskeratosis congenita, autosomal recessive 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/613988"> 613988 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612661"> WRAP53 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612661"> 612661 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/18/18?start=-3&limit=10&highlight=18"> 18p11.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620040"> Dyskeratosis congenita, digenic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Digenic dominant">DD</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/620040"> 620040 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188350"> TYMS </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188350"> 188350 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/478?start=-3&limit=10&highlight=478"> 20q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615190"> Dyskeratosis congenita, autosomal recessive 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/615190"> 615190 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608833"> RTEL1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608833"> 608833 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/478?start=-3&limit=10&highlight=478"> 20q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615190"> Dyskeratosis congenita, autosomal dominant 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/615190"> 615190 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608833"> RTEL1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608833"> 608833 </a>
|
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</span>
|
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</td>
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/876?start=-3&limit=10&highlight=876"> Xq28 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/305000"> Dyskeratosis congenita, X-linked </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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/305000"> 305000 </a>
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300126"> DKC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300126"> 300126 </a>
|
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</span>
|
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</td>
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</tr>
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</tbody>
|
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</table>
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</div>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant dyskeratosis congenita-1 (DKCA1) is caused by heterozygous mutation in the gene encoding telomerase RNA component (TERC; <a href="/entry/602322">602322</a>) on chromosome 3q26.</p>
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<p>Dyskeratosis congenita is a rare multisystem disorder caused by defective telomere maintenance. Clinical features are highly variable and include bone marrow failure, predisposition to malignancy, and pulmonary and hepatic fibrosis. The classic clinical triad of abnormal skin pigmentation, leukoplakia, and nail dystrophy is not always observed. Other features include premature graying of the hair, osteoporosis, epiphora, dental abnormalities and testicular atrophy, and gastrointestinal disease (review by <a href="#3" class="mim-tip-reference" title="Bessler, M., Du, H.-Y., Gu, B., Mason, P. J. <strong>Dysfunctional telomeres and dyskeratosis congenita.</strong> Haematologica 92: 1009-1012, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17650438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17650438</a>] [<a href="https://doi.org/10.3324/haematol.11221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17650438">Bessler et al., 2007</a> and <a href="#4" class="mim-tip-reference" title="Bessler, M., Wilson, D. B., Mason, P. J. <strong>Dyskeratosis congenita.</strong> FEBS Lett. 584: 3831-3838, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20493861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20493861</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20493861[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/10.1016/j.febslet.2010.05.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20493861">Bessler et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20493861+17650438" 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>Hoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS may show intrauterine growth retardation, microcephaly, delayed development, bone marrow failure, immunodeficiency, cerebellar hypoplasia, and gastrointestinal disease (enteropathy and enterocolitis). Death often occurs in childhood (summary by <a href="#17" class="mim-tip-reference" title="Walne, A. J., Vulliamy, T., Kirwan, M., Plagnol, V., Dokal, I. <strong>Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.</strong> Am. J. Hum. Genet. 92: 448-453, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23453664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23453664</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23453664[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/10.1016/j.ajhg.2013.02.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23453664">Walne et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23453664" 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 Dyskeratosis Congenita and Hoyeraal-Hreidarsson Syndrome</em></strong></p><p>
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Dyskeratosis congenita is a genetically heterogeneous disorder, showing autosomal recessive, autosomal dominant, X-linked, and digenic inheritance. Additional autosomal dominant forms include DKCA2 (<a href="/entry/613989">613989</a>), caused by mutation in the TERT gene (<a href="/entry/187270">187270</a>) on chromosome 5p15; DKCA3 (<a href="/entry/613990">613990</a>), caused by mutation in the TINF2 gene (<a href="/entry/604319">604319</a>) on chromosome 14q12; DKCA4 (see <a href="/entry/615190">615190</a>), caused by mutation in the RTEL1 gene (<a href="/entry/608833">608833</a>) on chromosome 20q13, DKCA5 (<a href="/entry/268130">268130</a>), caused by mutation in the TINF2 gene (<a href="/entry/604319">604319</a>) on chromosome 14q12, and DKCA6 (<a href="/entry/616553">616553</a>), caused by mutation in the ACD gene (<a href="/entry/609377">609377</a>) on chromosome 16q22.</p><p>Autosomal recessive forms include DKCB1 (<a href="/entry/224230">224230</a>), caused by mutation in the NOLA3 gene (<a href="/entry/606471">606471</a>) on chromosome 15q14; DKCB2 (<a href="/entry/613987">613987</a>), caused mutation in the NOLA2 gene (<a href="/entry/606470">606470</a>) on chromosome 5q35; DKCB3 (<a href="/entry/613988">613988</a>), caused by mutation in the TCAB1 gene (WRAP53; <a href="/entry/612661">612661</a>) on chromosome 17p13; DKCB4 (see <a href="/entry/613989">613989</a>), caused by mutation in the TERT gene; DKCB5 (<a href="/entry/615190">615190</a>), caused by mutation in the RTEL1 gene (<a href="/entry/608833">608833</a>) on chromosome 20q13; DKCB6 (<a href="/entry/616353">616353</a>), caused by mutation in the PARN gene (<a href="/entry/604212">604212</a>) on chromosome 16p13; DKCB7 (see <a href="/entry/616553">616553</a>), caused by mutation in the ACD gene (<a href="/entry/609377">609377</a>) on chromosome 16q22; and DKCB8 (<a href="/entry/620133">620133</a>), caused by mutation in the DCLRE1B gene (<a href="/entry/609683">609683</a>) on chromosome 1p13.</p><p>X-linked recessive DKCX (<a href="/entry/305000">305000</a>) is caused by mutation in the dyskerin gene (DKC1; <a href="/entry/300126">300126</a>) on Xq28.</p><p>DKCD (<a href="/entry/620040">620040</a>) is a digenic form of the disorder, caused by mutations in the TYMS gene (<a href="/entry/188350">188350</a>) combined with variations in the ENOSF1 gene (<a href="/entry/607427">607427</a>), both of which are on chromosome 18p11.</p><p>Hoyeraal-Hreidarsson syndrome, the severe clinical variant of DKC, can be caused by mutation in several different DKC-associated genes; see, e.g., DKC1 (<a href="/entry/300126">300126</a>), TINF2 (<a href="/entry/604319">604319</a>), TERT (<a href="/entry/187270">187270</a>), and RTEL1 (<a href="/entry/608833">608833</a>).</p><p>See also adult-onset telomere-related pulmonary fibrosis and/or bone marrow failure syndrome-1 and -2 (PFBMFT1, <a href="/entry/614742">614742</a> and PFBMFT2, <a href="/entry/614743">614743</a>), which are caused by mutations in the TERT and TERC genes, respectively. These disorders share some features of DKC, but show later onset and do not have skin abnormalities. The disorders related to telomere shortening are part of a phenotypic spectrum.</p><p>Mutation in the CTC1 gene (<a href="/entry/613129">613129</a>) on chromosome 17p13 causes cerebroretinal microangiopathy with calcifications and cysts (CRMCC; <a href="/entry/612199">612199</a>), another telomere-related disorder with overlapping features of DKC.</p>
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<p><a href="#13" class="mim-tip-reference" title="Scoggins, R. B., Prescott, K. J., Asher, G. H., Blaylock, W. K., Bright, R. W. <strong>Dyskeratosis congenita with Fanconi-type anemia: investigations of immunologic and other defects. (Abstract)</strong> Clin. Res. 19: 409 only, 1971."None>Scoggins et al. (1971)</a> described a black family with a form of dyskeratosis congenita inherited as an autosomal dominant trait. Features included reticular hyperpigmentation of the skin, dystrophic nails, osteoporosis, premalignant leukokeratosis of the oral mucosa, absent fingerprints, scant hair, poor dentition, absent lacrimal puncta, palmar hyperkeratosis, anemia, endoreduplication on chromosome studies, and an immune defect. The skin changes were due to melanin having been released by melanocytes and taken up by dermal phagocytes. The hematologic, immunologic, and chromosomal changes were similar to those of Fanconi pancytopenia (<a href="/entry/227650">227650</a>). Three generations were affected, with male-to-male transmission.</p><p>Reticulated hyperpigmentation is usually the first cutaneous manifestation of dyskeratosis congenita. The pigmentary change may be limited to neck, upper chest, and proximal parts of the limbs initially, but within affected areas the involvement is always diffuse. <a href="#2" class="mim-tip-reference" title="Baselga, E., Drolet, B. A., van Tuinen, P., Esterly, N. B., Happle, R. <strong>Dyskeratosis congenita with linear areas of severe cutaneous involvement.</strong> Am. J. Med. Genet. 75: 492-496, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9489792/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9489792</a>]" pmid="9489792">Baselga et al. (1998)</a> described a patient with typical diffuse cutaneous signs of DKC superimposed with hyperpigmentation that was more pronounced along Blaschko lines. To explain this phenomenon, they assumed that the patient had the autosomal dominant type and that loss of heterozygosity occurred in a somatic cell, giving rise to a population of cells that migrated along these lines during embryogenesis. The cells that migrated along Blaschko lines and expressed an intensified clinical picture would be homozygous or hemizygous for the defect. <a href="#7" class="mim-tip-reference" title="Happle, R. <strong>Segmental forms of autosomal dominant skin disorders: different types of severity reflect different states of zygosity. (Letter)</strong> Am. J. Med. Genet. 66: 241-242, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8958340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8958340</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19961211)66:2<241::AID-AJMG24>3.0.CO;2-S" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8958340">Happle (1996)</a> suggested this mechanism for the occurrence of severe segmental lesions superimposed on a milder, diffuse manifestation of autosomal skin disorders such as neurofibromatosis, epidermolytic hyperkeratosis, or porokeratosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9489792+8958340" 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="#15" class="mim-tip-reference" title="Vulliamy, T., Marrone, A., Goldman, F., Dearlove, A., Bessler, M., Mason, P. J., Dokal, I. <strong>The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita.</strong> Nature 413: 432-435, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11574891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11574891</a>] [<a href="https://doi.org/10.1038/35096585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11574891">Vulliamy et al. (2001)</a> reported a large family with autosomal dominant DKCA1. In addition to leukoplakia, dysplastic nails, and reticulate pigmentation pattern, affected individuals had variable features of premature graying, early dental loss, bone marrow failure, liver cirrhosis, pulmonary disease, and skin cancer. Genetic analysis identified a heterozygous deletion in the TERC gene (<a href="/entry/602322#0001">602322.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11574891" 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="#9" class="mim-tip-reference" title="Jonassaint, N. L., Guo, N., Califano, J. A., Montgomery, E. A., Armanios, M. <strong>The gastrointestinal manifestations of telomere-mediated disease.</strong> Aging Cell 12: 319-323, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23279657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23279657</a>] [<a href="https://doi.org/10.1111/acel.12041" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23279657">Jonassaint et al. (2013)</a> identified significant gastrointestinal disease in 6 (16%) of 38 individuals from a registry of patients with short telomere syndromes due to various genetic defects. One of these patients (patient 5) had a heterozygous mutation in the TERC gene. She was a 34-year-old woman with progressive anorexia, epigastric pain, nausea, and early satiety. Endoscopy showed a Schatzki ring in the distal esophagus and atrophic appearing gastric and duodenal mucosa. There was intraepithelial lymphocytosis, pit apoptosis in the stomach, villous blunting with crypt hyperplasia in the duodenum, and lymphocytic colitis. She also had pancytopenia; family history was positive for pulmonary fibrosis and aplastic anemia. A review of the literature identified additional patients with clinical diagnoses of DKC and HHS who had gastrointestinal disease; the genetic defect was unknown in many patients. Overall, intestinal disease presented earlier and was more severe in younger patients with HHS compared to those with classic DKC. Dysphagia due to esophageal stricture and stenosis was the most common upper GI feature; it was observed mainly in patients with DKC, although a few patients had HHS. Chronic diarrhea with failure to thrive due to enteropathy and enterocolitis was the most common lower GI feature; it was observed mainly in younger patients with HHS and was often a presenting feature. Histopathologic findings included pancolitis, atrophic mucosa, gland dropout, lamina propria fibrosis, intraepithelial lymphocytosis, and epithelial cell apoptosis. The disease course in HHS patients with lower GI disease was sometimes life-threatening, requiring total parenteral nutrition or colectomy. All patients with HHS and intestinal disease had a concurrent B-cell lymphopenia and/or hypogammaglobulinemia. The findings suggested that telomere dysfunction disrupts the epithelial integrity of the GI tract. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23279657" 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="#14" class="mim-tip-reference" title="Tchou, P. K., Kohn, T. <strong>Dyskeratosis congenita: an autosomal dominant disorder.</strong> J. Am. Acad. Derm. 6: 1034-1039, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7096665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7096665</a>] [<a href="https://doi.org/10.1016/s0190-9622(82)80100-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7096665">Tchou and Kohn (1982)</a> reported a presumed autosomal dominant form of DKC. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7096665" 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 review of DKC, <a href="#5" class="mim-tip-reference" title="Davidson, H. R., Connor, J. M. <strong>Dyskeratosis congenita.</strong> J. Med. Genet. 25: 843-846, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3236366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3236366</a>] [<a href="https://doi.org/10.1136/jmg.25.12.843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3236366">Davidson and Connor (1988)</a> noted that X-linked recessive, autosomal dominant, and autosomal recessive patterns of inheritance had been described. The authors cited a family reported by <a href="#14" class="mim-tip-reference" title="Tchou, P. K., Kohn, T. <strong>Dyskeratosis congenita: an autosomal dominant disorder.</strong> J. Am. Acad. Derm. 6: 1034-1039, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7096665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7096665</a>] [<a href="https://doi.org/10.1016/s0190-9622(82)80100-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7096665">Tchou and Kohn (1982)</a>, in which 5 females were affected. In this family the age of onset was later and the features milder and less typical than usual in the X-linked form, particularly in the 3 affected males. <a href="#5" class="mim-tip-reference" title="Davidson, H. R., Connor, J. M. <strong>Dyskeratosis congenita.</strong> J. Med. Genet. 25: 843-846, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3236366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3236366</a>] [<a href="https://doi.org/10.1136/jmg.25.12.843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3236366">Davidson and Connor (1988)</a> concluded that autosomal inheritance should be suspected in families with affected females. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7096665+3236366" 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 Anticipation</em></strong></p><p>
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<a href="#16" class="mim-tip-reference" title="Vulliamy, T., Marrone, A., Szydlo, R., Walne, A., Mason, P. J., Dokal, I. <strong>Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.</strong> Nature Genet. 36: 447-449, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15098033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15098033</a>] [<a href="https://doi.org/10.1038/ng1346" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15098033">Vulliamy et al. (2004)</a> demonstrated that anticipation occurs in DKCA1 and that the molecular basis resides in progressive telomere shortening in successive generations. In 8 families, the disease became more severe in succeeding generations. Of affected parents, 7 of 12 were asymptomatic, ranging in age from 36 to 61 years. In these cases, dyskeratosis congenita was diagnosed only by the identification of a TERC mutation; subtle signs of the disease were often detected subsequently. For the 5 remaining affected parents, the median age at which disease features were first identified was 37 years. Of the affected children, only 5 of 15 remained asymptomatic; they were aged 3, 7, 11, 14, and 20 years and were diagnosed only through mutation analysis. For the remaining 10 affected children, symptoms presented at a median age of 14.5 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15098033" 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="#10" class="mim-tip-reference" title="Jongmans, M. C. J., Verwiel, E. T. P., Heijdra, Y., Vulliamy, T., Kamping, E. J., Hehir-Kwa, J. Y., Bongers, E. M. H. F., Pfundt, R., van Emst, L., van Leeuwen, F. N., van Gassen, K. L. I., Geurts van Kessel, A., Dokal, I., Hoogerbrugge, N., Ligtenberg, M. J. L., Kuiper, R. P. <strong>Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.</strong> Am. J. Hum. Genet. 90: 426-433, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22341970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22341970</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22341970[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/10.1016/j.ajhg.2012.01.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22341970">Jongmans et al. (2012)</a> observed somatic reversion of the mutant TERC allele in blood cells of 2 affected members of a family with variable manifestations of DKCA1 due to a germline heterozygous TERC mutation (<a href="/entry/602322#0011">602322.0011</a>). In both cases, the reversion occurred by acquired uniparental disomy of chromosome 3q, including TERC, during mitotic recombination. Four additional cases of a mosaic-reversion pattern in blood cells were found among a cohort of 17 patients with germline TERC mutations. None of the patients with somatic mosaic reversion had bone marrow failure, and all had a small deletion in the TERC gene. The findings indicated that revertant somatic mosaicism is a recurrent event in DKCA1, which has important implications for diagnostic testing, often performed on peripheral blood, and may help explain the variable phenotype of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22341970" 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 an isolated case in a female patient, the daughter of young, unrelated parents, <a href="#11" class="mim-tip-reference" title="Kehrer, H., Krone, W., Schindler, D., Kaufmann, R., Schrezenmeier, H. <strong>Cytogenetic studies of skin fibroblast cultures from a karyotypically normal female with dyskeratosis congenita.</strong> Clin. Genet. 41: 129-134, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1563086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1563086</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03648.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1563086">Kehrer et al. (1992)</a> found a markedly increased frequency of chromosomal breaks, hypodiploidy, and premature centromere disjunction in skin fibroblast cultures. The frequency of mitotic disturbances was almost as great as that in cultures from 2 severely affected patients with Fanconi anemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1563086" 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="Goldman, F. D., Aubert, G., Klingelhutz, A. J., Hills, M., Cooper, S. R., Hamilton, W. S., Schleuter, A. J., Lambie, K., Eaves, C. J., Lansdorp, P. M. <strong>Characterization of primitive hematopoietic cells from patients with dyskeratosis congenita.</strong> Blood 111: 4523-4531, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18310499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18310499</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18310499[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/10.1182/blood-2007-10-120204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18310499">Goldman et al. (2008)</a> characterized CD34+ cells derived from the bone marrow and peripheral blood of 5 patients with DKC (<a href="#15" class="mim-tip-reference" title="Vulliamy, T., Marrone, A., Goldman, F., Dearlove, A., Bessler, M., Mason, P. J., Dokal, I. <strong>The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita.</strong> Nature 413: 432-435, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11574891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11574891</a>] [<a href="https://doi.org/10.1038/35096585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11574891">Vulliamy et al., 2001</a>) after G-CSF mobilization. Patients had severely decreased numbers of CD34+ cells, both before and after mobilization, compared to controls. Patient cells also had markedly reduced telomere lengths compared to controls; however, differentiation of mature lineages from these cells was not grossly perturbed. <a href="#6" class="mim-tip-reference" title="Goldman, F. D., Aubert, G., Klingelhutz, A. J., Hills, M., Cooper, S. R., Hamilton, W. S., Schleuter, A. J., Lambie, K., Eaves, C. J., Lansdorp, P. M. <strong>Characterization of primitive hematopoietic cells from patients with dyskeratosis congenita.</strong> Blood 111: 4523-4531, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18310499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18310499</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18310499[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/10.1182/blood-2007-10-120204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18310499">Goldman et al. (2008)</a> concluded that bone marrow failure in DKC results from a quantitative impairment of hematopoietic stem cells to sustain their own numbers, perhaps because these cells enter a state of proliferative arrest or death due to accumulated shortening of telomeres over multiple generations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18310499+11574891" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a large pedigree with autosomal dominant DKC, <a href="#15" class="mim-tip-reference" title="Vulliamy, T., Marrone, A., Goldman, F., Dearlove, A., Bessler, M., Mason, P. J., Dokal, I. <strong>The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita.</strong> Nature 413: 432-435, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11574891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11574891</a>] [<a href="https://doi.org/10.1038/35096585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11574891">Vulliamy et al. (2001)</a> mapped the disorder to a 30-cM region, with a lod score of 1.8 for marker D3S3725. The TERC gene maps to 3q21-q28 and was considered a likely candidate because it is known to interact with dyskerin (<a href="/entry/300126">300126</a>), the gene mutated in X-linked DKC (<a href="/entry/305000">305000</a>). <a href="#15" class="mim-tip-reference" title="Vulliamy, T., Marrone, A., Goldman, F., Dearlove, A., Bessler, M., Mason, P. J., Dokal, I. <strong>The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita.</strong> Nature 413: 432-435, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11574891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11574891</a>] [<a href="https://doi.org/10.1038/35096585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11574891">Vulliamy et al. (2001)</a> identified a heterozygous 821-bp deletion (<a href="/entry/602322#0001">602322.0001</a>) that removed the 3-prime 74 bases of TERC in all affected individuals of the large family. All unaffected individuals had 2 wildtype alleles. Of the 2 individuals in the second generation with undetermined clinical status, one carried the mutation and was 37 years old. Other affected members of his generation were diagnosed between 29 and 48 years of age. Heterozygous TERC mutations were also identified in 2 other families with autosomal dominant DKCA1 (<a href="/entry/602322#0002">602322.0002</a> and <a href="/entry/602322#0003">602322.0003</a>, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11574891" 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>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between dyskeratosis congenita and germline variation in the NPM1 gene, see <a href="/entry/164040#0005">164040.0005</a> and <a href="/entry/164040#0006">164040.0006</a>.</p>
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<p>Patients with the X-linked form of DKC (<a href="/entry/305000">305000</a>) tend to have a more severe disorder with earlier onset and a higher frequency of mucocutaneous manifestations compared to those with TERT or TERC mutations, who have later onset and may not have mucocutaneous manifestations. DKC due to TERT or TERC mutations shows genetic anticipation (review by <a href="#3" class="mim-tip-reference" title="Bessler, M., Du, H.-Y., Gu, B., Mason, P. J. <strong>Dysfunctional telomeres and dyskeratosis congenita.</strong> Haematologica 92: 1009-1012, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17650438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17650438</a>] [<a href="https://doi.org/10.3324/haematol.11221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17650438">Bessler et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17650438" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Kirwan, M., Dokal, I. <strong>Dyskeratosis congenita: a genetic disorder of many faces.</strong> Clin. Genet. 73: 103-112, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18005359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18005359</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00923.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18005359">Kirwan and Dokal (2008)</a> discussed the clinical and genetic heterogeneity of dyskeratosis congenita. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18005359" 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="Hockemeyer, D., Palm, W., Wang, R. C., Couto, S. S., de Lange, T. <strong>Engineered telomere degradation models dyskeratosis congenita.</strong> Genes Dev. 22: 1773-1785, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18550783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18550783</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18550783[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/10.1101/gad.1679208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18550783">Hockemeyer et al. (2008)</a> noted that mice lacking components of telomerase fail to show phenotypes typical of DKC. They developed a mouse model in which key characteristics of DKC were induced by enhanced telomere degradation. Mice lacking the shelterin component Pot1b (<a href="/entry/606478">606478</a>) (Pot1b -/-) and also deficient in Terc (Terc +/-) developed progressive bone marrow failure, hyperpigmentation, and nail abnormalities. Bone marrow failure was fatal between 4 and 5 months of age in Pot1b -/- Terc +/- mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18550783" 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="#1" class="mim-tip-reference" title="Armanios, M., Alder, J. K., Parry, E. M., Karim, B., Strong, M. A., Greider, C. W. <strong>Short telomeres are sufficient to cause the degenerative defects associated with aging.</strong> Am. J. Hum. Genet. 85: 823-832, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19944403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19944403</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19944403[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/10.1016/j.ajhg.2009.10.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19944403">Armanios et al. (2009)</a> generated wildtype mice with short telomeres. In these mice, <a href="#1" class="mim-tip-reference" title="Armanios, M., Alder, J. K., Parry, E. M., Karim, B., Strong, M. A., Greider, C. W. <strong>Short telomeres are sufficient to cause the degenerative defects associated with aging.</strong> Am. J. Hum. Genet. 85: 823-832, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19944403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19944403</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19944403[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/10.1016/j.ajhg.2009.10.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19944403">Armanios et al. (2009)</a> identified hematopoietic and immune defects that resembled those present in patients with dyskeratosis congenita. Patients with dyskeratosis congenita have a premature aging syndrome that can be caused by mutations in the RNA or catalytic component of telomerase (see TERC, <a href="/entry/602322">602322</a> and TERT, <a href="/entry/187270">187270</a>). When mice with short telomeres were interbred, telomere length was only incrementally restored, and even several generations later, wildtype mice with short telomeres still displayed degenerative defects. <a href="#1" class="mim-tip-reference" title="Armanios, M., Alder, J. K., Parry, E. M., Karim, B., Strong, M. A., Greider, C. W. <strong>Short telomeres are sufficient to cause the degenerative defects associated with aging.</strong> Am. J. Hum. Genet. 85: 823-832, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19944403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19944403</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19944403[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/10.1016/j.ajhg.2009.10.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19944403">Armanios et al. (2009)</a> concluded that their findings implicated telomere length as a unique heritable trait and demonstrated that short telomeres are sufficient to mediate the degenerative defects of aging. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19944403" 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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Armanios, M., Alder, J. K., Parry, E. M., Karim, B., Strong, M. A., Greider, C. W.
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Am. J. Hum. Genet. 85: 823-832, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19944403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19944403</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19944403[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19944403" 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/10.3324/haematol.11221" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.febslet.2010.05.019" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.25.12.843" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1096-8628(19961211)66:2<241::AID-AJMG24>3.0.CO;2-S" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1101/gad.1679208" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/acel.12041" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2012.01.004" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03648.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2007.00923.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0190-9622(82)80100-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/35096585" target="_blank">Full Text</a>]
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<a id="Vulliamy2004" class="mim-anchor"></a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15098033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15098033</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15098033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng1346" target="_blank">Full Text</a>]
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<a id="Walne2013" class="mim-anchor"></a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23453664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23453664</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23453664[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23453664" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2013.02.001" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 05/08/2023
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Cassandra L. Kniffin - updated : 9/11/2013<br>Cassandra L. Kniffin - updated : 3/27/2012<br>Cassandra L. Kniffin - updated : 5/25/2011<br>Ada Hamosh - updated : 3/18/2010<br>Cassandra L. Kniffin - updated : 2/5/2009<br>Cassandra L. Kniffin - updated : 12/30/2008<br>Patricia A. Hartz - updated : 8/25/2008<br>Marla J. F. O'Neill - updated : 7/10/2008<br>Victor A. McKusick - updated : 4/10/2008<br>Cassandra L. Kniffin - updated : 6/12/2007<br>Victor A. McKusick - updated : 4/26/2004<br>Marla J. F. O'Neill - updated : 2/2/2004<br>Victor A. McKusick - updated : 3/18/1998
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Victor A. McKusick : 6/4/1986
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carol : 09/04/2024
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carol : 05/11/2023<br>alopez : 05/10/2023<br>ckniffin : 05/08/2023<br>alopez : 11/28/2022<br>ckniffin : 11/24/2022<br>alopez : 09/26/2022<br>ckniffin : 09/21/2022<br>carol : 11/22/2019<br>ckniffin : 11/21/2019<br>carol : 04/07/2017<br>carol : 02/10/2017<br>carol : 08/09/2016<br>alopez : 09/18/2015<br>alopez : 9/18/2015<br>ckniffin : 9/17/2015<br>carol : 5/12/2015<br>ckniffin : 5/11/2015<br>carol : 3/28/2014<br>ckniffin : 3/27/2014<br>carol : 9/20/2013<br>ckniffin : 9/11/2013<br>carol : 4/23/2013<br>ckniffin : 4/22/2013<br>carol : 3/12/2013<br>ckniffin : 3/11/2013<br>carol : 8/6/2012<br>ckniffin : 8/6/2012<br>ckniffin : 8/2/2012<br>carol : 4/2/2012<br>ckniffin : 3/27/2012<br>carol : 5/26/2011<br>ckniffin : 5/25/2011<br>alopez : 3/18/2010<br>alopez : 3/18/2010<br>wwang : 7/24/2009<br>carol : 3/26/2009<br>wwang : 2/18/2009<br>ckniffin : 2/5/2009<br>wwang : 1/15/2009<br>ckniffin : 12/30/2008<br>mgross : 8/26/2008<br>terry : 8/25/2008<br>wwang : 7/11/2008<br>terry : 7/10/2008<br>alopez : 4/11/2008<br>alopez : 4/10/2008<br>wwang : 1/7/2008<br>wwang : 7/9/2007<br>wwang : 7/9/2007<br>ckniffin : 6/12/2007<br>alopez : 5/3/2004<br>terry : 4/26/2004<br>carol : 2/2/2004<br>tkritzer : 2/20/2003<br>alopez : 9/26/2001<br>dholmes : 4/17/1998<br>carol : 3/30/1998<br>terry : 3/18/1998<br>mimadm : 6/25/1994<br>carol : 5/22/1992<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>root : 10/23/1989
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<strong>#</strong> 127550
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DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1; DKCA1
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DYSKERATOSIS CONGENITA, SCOGGINS TYPE
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<strong>ORPHA:</strong> 1775;
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<strong>DO:</strong> 0070014;
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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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3q26.2
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Dyskeratosis congenita, autosomal dominant 1
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127550
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Autosomal dominant
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<span class="mim-font">
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3
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TERC
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602322
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant dyskeratosis congenita-1 (DKCA1) is caused by heterozygous mutation in the gene encoding telomerase RNA component (TERC; 602322) on chromosome 3q26.</p>
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<strong>Description</strong>
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<p>Dyskeratosis congenita is a rare multisystem disorder caused by defective telomere maintenance. Clinical features are highly variable and include bone marrow failure, predisposition to malignancy, and pulmonary and hepatic fibrosis. The classic clinical triad of abnormal skin pigmentation, leukoplakia, and nail dystrophy is not always observed. Other features include premature graying of the hair, osteoporosis, epiphora, dental abnormalities and testicular atrophy, and gastrointestinal disease (review by Bessler et al., 2007 and Bessler et al., 2010). </p><p>Hoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS may show intrauterine growth retardation, microcephaly, delayed development, bone marrow failure, immunodeficiency, cerebellar hypoplasia, and gastrointestinal disease (enteropathy and enterocolitis). Death often occurs in childhood (summary by Walne et al., 2013). </p><p><strong><em>Genetic Heterogeneity of Dyskeratosis Congenita and Hoyeraal-Hreidarsson Syndrome</em></strong></p><p>
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Dyskeratosis congenita is a genetically heterogeneous disorder, showing autosomal recessive, autosomal dominant, X-linked, and digenic inheritance. Additional autosomal dominant forms include DKCA2 (613989), caused by mutation in the TERT gene (187270) on chromosome 5p15; DKCA3 (613990), caused by mutation in the TINF2 gene (604319) on chromosome 14q12; DKCA4 (see 615190), caused by mutation in the RTEL1 gene (608833) on chromosome 20q13, DKCA5 (268130), caused by mutation in the TINF2 gene (604319) on chromosome 14q12, and DKCA6 (616553), caused by mutation in the ACD gene (609377) on chromosome 16q22.</p><p>Autosomal recessive forms include DKCB1 (224230), caused by mutation in the NOLA3 gene (606471) on chromosome 15q14; DKCB2 (613987), caused mutation in the NOLA2 gene (606470) on chromosome 5q35; DKCB3 (613988), caused by mutation in the TCAB1 gene (WRAP53; 612661) on chromosome 17p13; DKCB4 (see 613989), caused by mutation in the TERT gene; DKCB5 (615190), caused by mutation in the RTEL1 gene (608833) on chromosome 20q13; DKCB6 (616353), caused by mutation in the PARN gene (604212) on chromosome 16p13; DKCB7 (see 616553), caused by mutation in the ACD gene (609377) on chromosome 16q22; and DKCB8 (620133), caused by mutation in the DCLRE1B gene (609683) on chromosome 1p13.</p><p>X-linked recessive DKCX (305000) is caused by mutation in the dyskerin gene (DKC1; 300126) on Xq28.</p><p>DKCD (620040) is a digenic form of the disorder, caused by mutations in the TYMS gene (188350) combined with variations in the ENOSF1 gene (607427), both of which are on chromosome 18p11.</p><p>Hoyeraal-Hreidarsson syndrome, the severe clinical variant of DKC, can be caused by mutation in several different DKC-associated genes; see, e.g., DKC1 (300126), TINF2 (604319), TERT (187270), and RTEL1 (608833).</p><p>See also adult-onset telomere-related pulmonary fibrosis and/or bone marrow failure syndrome-1 and -2 (PFBMFT1, 614742 and PFBMFT2, 614743), which are caused by mutations in the TERT and TERC genes, respectively. These disorders share some features of DKC, but show later onset and do not have skin abnormalities. The disorders related to telomere shortening are part of a phenotypic spectrum.</p><p>Mutation in the CTC1 gene (613129) on chromosome 17p13 causes cerebroretinal microangiopathy with calcifications and cysts (CRMCC; 612199), another telomere-related disorder with overlapping features of DKC.</p>
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<strong>Clinical Features</strong>
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<p>Scoggins et al. (1971) described a black family with a form of dyskeratosis congenita inherited as an autosomal dominant trait. Features included reticular hyperpigmentation of the skin, dystrophic nails, osteoporosis, premalignant leukokeratosis of the oral mucosa, absent fingerprints, scant hair, poor dentition, absent lacrimal puncta, palmar hyperkeratosis, anemia, endoreduplication on chromosome studies, and an immune defect. The skin changes were due to melanin having been released by melanocytes and taken up by dermal phagocytes. The hematologic, immunologic, and chromosomal changes were similar to those of Fanconi pancytopenia (227650). Three generations were affected, with male-to-male transmission.</p><p>Reticulated hyperpigmentation is usually the first cutaneous manifestation of dyskeratosis congenita. The pigmentary change may be limited to neck, upper chest, and proximal parts of the limbs initially, but within affected areas the involvement is always diffuse. Baselga et al. (1998) described a patient with typical diffuse cutaneous signs of DKC superimposed with hyperpigmentation that was more pronounced along Blaschko lines. To explain this phenomenon, they assumed that the patient had the autosomal dominant type and that loss of heterozygosity occurred in a somatic cell, giving rise to a population of cells that migrated along these lines during embryogenesis. The cells that migrated along Blaschko lines and expressed an intensified clinical picture would be homozygous or hemizygous for the defect. Happle (1996) suggested this mechanism for the occurrence of severe segmental lesions superimposed on a milder, diffuse manifestation of autosomal skin disorders such as neurofibromatosis, epidermolytic hyperkeratosis, or porokeratosis. </p><p>Vulliamy et al. (2001) reported a large family with autosomal dominant DKCA1. In addition to leukoplakia, dysplastic nails, and reticulate pigmentation pattern, affected individuals had variable features of premature graying, early dental loss, bone marrow failure, liver cirrhosis, pulmonary disease, and skin cancer. Genetic analysis identified a heterozygous deletion in the TERC gene (602322.0001). </p><p>Jonassaint et al. (2013) identified significant gastrointestinal disease in 6 (16%) of 38 individuals from a registry of patients with short telomere syndromes due to various genetic defects. One of these patients (patient 5) had a heterozygous mutation in the TERC gene. She was a 34-year-old woman with progressive anorexia, epigastric pain, nausea, and early satiety. Endoscopy showed a Schatzki ring in the distal esophagus and atrophic appearing gastric and duodenal mucosa. There was intraepithelial lymphocytosis, pit apoptosis in the stomach, villous blunting with crypt hyperplasia in the duodenum, and lymphocytic colitis. She also had pancytopenia; family history was positive for pulmonary fibrosis and aplastic anemia. A review of the literature identified additional patients with clinical diagnoses of DKC and HHS who had gastrointestinal disease; the genetic defect was unknown in many patients. Overall, intestinal disease presented earlier and was more severe in younger patients with HHS compared to those with classic DKC. Dysphagia due to esophageal stricture and stenosis was the most common upper GI feature; it was observed mainly in patients with DKC, although a few patients had HHS. Chronic diarrhea with failure to thrive due to enteropathy and enterocolitis was the most common lower GI feature; it was observed mainly in younger patients with HHS and was often a presenting feature. Histopathologic findings included pancolitis, atrophic mucosa, gland dropout, lamina propria fibrosis, intraepithelial lymphocytosis, and epithelial cell apoptosis. The disease course in HHS patients with lower GI disease was sometimes life-threatening, requiring total parenteral nutrition or colectomy. All patients with HHS and intestinal disease had a concurrent B-cell lymphopenia and/or hypogammaglobulinemia. The findings suggested that telomere dysfunction disrupts the epithelial integrity of the GI tract. </p>
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<strong>Inheritance</strong>
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<p>Tchou and Kohn (1982) reported a presumed autosomal dominant form of DKC. </p><p>In a review of DKC, Davidson and Connor (1988) noted that X-linked recessive, autosomal dominant, and autosomal recessive patterns of inheritance had been described. The authors cited a family reported by Tchou and Kohn (1982), in which 5 females were affected. In this family the age of onset was later and the features milder and less typical than usual in the X-linked form, particularly in the 3 affected males. Davidson and Connor (1988) concluded that autosomal inheritance should be suspected in families with affected females. </p><p><strong><em>Genetic Anticipation</em></strong></p><p>
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Vulliamy et al. (2004) demonstrated that anticipation occurs in DKCA1 and that the molecular basis resides in progressive telomere shortening in successive generations. In 8 families, the disease became more severe in succeeding generations. Of affected parents, 7 of 12 were asymptomatic, ranging in age from 36 to 61 years. In these cases, dyskeratosis congenita was diagnosed only by the identification of a TERC mutation; subtle signs of the disease were often detected subsequently. For the 5 remaining affected parents, the median age at which disease features were first identified was 37 years. Of the affected children, only 5 of 15 remained asymptomatic; they were aged 3, 7, 11, 14, and 20 years and were diagnosed only through mutation analysis. For the remaining 10 affected children, symptoms presented at a median age of 14.5 years. </p>
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<strong>Diagnosis</strong>
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<p>Jongmans et al. (2012) observed somatic reversion of the mutant TERC allele in blood cells of 2 affected members of a family with variable manifestations of DKCA1 due to a germline heterozygous TERC mutation (602322.0011). In both cases, the reversion occurred by acquired uniparental disomy of chromosome 3q, including TERC, during mitotic recombination. Four additional cases of a mosaic-reversion pattern in blood cells were found among a cohort of 17 patients with germline TERC mutations. None of the patients with somatic mosaic reversion had bone marrow failure, and all had a small deletion in the TERC gene. The findings indicated that revertant somatic mosaicism is a recurrent event in DKCA1, which has important implications for diagnostic testing, often performed on peripheral blood, and may help explain the variable phenotype of the disorder. </p>
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<strong>Pathogenesis</strong>
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<p>In an isolated case in a female patient, the daughter of young, unrelated parents, Kehrer et al. (1992) found a markedly increased frequency of chromosomal breaks, hypodiploidy, and premature centromere disjunction in skin fibroblast cultures. The frequency of mitotic disturbances was almost as great as that in cultures from 2 severely affected patients with Fanconi anemia. </p><p>Goldman et al. (2008) characterized CD34+ cells derived from the bone marrow and peripheral blood of 5 patients with DKC (Vulliamy et al., 2001) after G-CSF mobilization. Patients had severely decreased numbers of CD34+ cells, both before and after mobilization, compared to controls. Patient cells also had markedly reduced telomere lengths compared to controls; however, differentiation of mature lineages from these cells was not grossly perturbed. Goldman et al. (2008) concluded that bone marrow failure in DKC results from a quantitative impairment of hematopoietic stem cells to sustain their own numbers, perhaps because these cells enter a state of proliferative arrest or death due to accumulated shortening of telomeres over multiple generations. </p>
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<strong>Molecular Genetics</strong>
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<p>In a large pedigree with autosomal dominant DKC, Vulliamy et al. (2001) mapped the disorder to a 30-cM region, with a lod score of 1.8 for marker D3S3725. The TERC gene maps to 3q21-q28 and was considered a likely candidate because it is known to interact with dyskerin (300126), the gene mutated in X-linked DKC (305000). Vulliamy et al. (2001) identified a heterozygous 821-bp deletion (602322.0001) that removed the 3-prime 74 bases of TERC in all affected individuals of the large family. All unaffected individuals had 2 wildtype alleles. Of the 2 individuals in the second generation with undetermined clinical status, one carried the mutation and was 37 years old. Other affected members of his generation were diagnosed between 29 and 48 years of age. Heterozygous TERC mutations were also identified in 2 other families with autosomal dominant DKCA1 (602322.0002 and 602322.0003, respectively). </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between dyskeratosis congenita and germline variation in the NPM1 gene, see 164040.0005 and 164040.0006.</p>
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<strong>Genotype/Phenotype Correlations</strong>
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<p>Patients with the X-linked form of DKC (305000) tend to have a more severe disorder with earlier onset and a higher frequency of mucocutaneous manifestations compared to those with TERT or TERC mutations, who have later onset and may not have mucocutaneous manifestations. DKC due to TERT or TERC mutations shows genetic anticipation (review by Bessler et al., 2007). </p><p>Kirwan and Dokal (2008) discussed the clinical and genetic heterogeneity of dyskeratosis congenita. </p>
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<strong>Animal Model</strong>
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<p>Hockemeyer et al. (2008) noted that mice lacking components of telomerase fail to show phenotypes typical of DKC. They developed a mouse model in which key characteristics of DKC were induced by enhanced telomere degradation. Mice lacking the shelterin component Pot1b (606478) (Pot1b -/-) and also deficient in Terc (Terc +/-) developed progressive bone marrow failure, hyperpigmentation, and nail abnormalities. Bone marrow failure was fatal between 4 and 5 months of age in Pot1b -/- Terc +/- mice. </p><p>Armanios et al. (2009) generated wildtype mice with short telomeres. In these mice, Armanios et al. (2009) identified hematopoietic and immune defects that resembled those present in patients with dyskeratosis congenita. Patients with dyskeratosis congenita have a premature aging syndrome that can be caused by mutations in the RNA or catalytic component of telomerase (see TERC, 602322 and TERT, 187270). When mice with short telomeres were interbred, telomere length was only incrementally restored, and even several generations later, wildtype mice with short telomeres still displayed degenerative defects. Armanios et al. (2009) concluded that their findings implicated telomere length as a unique heritable trait and demonstrated that short telomeres are sufficient to mediate the degenerative defects of aging. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Armanios, M., Alder, J. K., Parry, E. M., Karim, B., Strong, M. A., Greider, C. W.
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<strong>Short telomeres are sufficient to cause the degenerative defects associated with aging.</strong>
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Vulliamy, T., Marrone, A., Szydlo, R., Walne, A., Mason, P. J., Dokal, I.
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Walne, A. J., Vulliamy, T., Kirwan, M., Plagnol, V., Dokal, I.
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<strong>Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.</strong>
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Cassandra L. Kniffin - updated : 05/08/2023<br>Cassandra L. Kniffin - updated : 9/11/2013<br>Cassandra L. Kniffin - updated : 3/27/2012<br>Cassandra L. Kniffin - updated : 5/25/2011<br>Ada Hamosh - updated : 3/18/2010<br>Cassandra L. Kniffin - updated : 2/5/2009<br>Cassandra L. Kniffin - updated : 12/30/2008<br>Patricia A. Hartz - updated : 8/25/2008<br>Marla J. F. O'Neill - updated : 7/10/2008<br>Victor A. McKusick - updated : 4/10/2008<br>Cassandra L. Kniffin - updated : 6/12/2007<br>Victor A. McKusick - updated : 4/26/2004<br>Marla J. F. O'Neill - updated : 2/2/2004<br>Victor A. McKusick - updated : 3/18/1998
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Victor A. McKusick : 6/4/1986
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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