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Entry
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- #615821 - CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS; DCWHKTA
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- OMIM
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<span class="h4">#615821</span>
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</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="#molecularGenetics">Molecular Genetics</a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, TOOTH AGENESIS) OR (DSP)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=25086&Typ=Pat" title="Erythrokeratodermia-cardiomyopathy syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Erythrokeratodermia-cardio… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10864&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Carvajal syndrome </a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/dsp" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=615821[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=476096" title="Erythrokeratodermia-cardiomyopathy syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Erythrokeratodermia-cardio…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=65282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Carvajal syndrome</a></div>
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<div><a href="https://omia.org/OMIA002243/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 476096, 65282<br />
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">ICD+</a>
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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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615821
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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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CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS; DCWHKTA
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</span>
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</h3>
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<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
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<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
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</tr>
|
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</thead>
|
|
<tbody>
|
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|
|
<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/6/42?start=-3&limit=10&highlight=42">
|
|
6p24.3
|
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</a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615821"> 615821 </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">
|
|
DSP
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/125647"> 125647 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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|
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|
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|
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|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/615821" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/615821" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/615821" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<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 />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Tooth agenesis, variable <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4014394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4014394</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009804" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009804</a>]</span><br /> -
|
|
Poorly mineralized enamel <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4314446&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4314446</a>]</span><br /> -
|
|
Recurrent caries of primary teeth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4314445&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4314445</a>]</span><br /> -
|
|
Gingival recession <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4356008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4356008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K06.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K06.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/523.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">523.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/523.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">523.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030816" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030816</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030816" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030816</a>]</span><br /> -
|
|
Gingival erythema <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110342004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110342004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239735&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239735</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cardiomyopathy, dilated <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399020009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399020009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195021004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195021004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007193&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007193</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001644" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001644</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001644" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001644</a>]</span><br /> -
|
|
Biventricular enlargement <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4014398&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4014398</a>]</span><br /> -
|
|
Biventricular decreased contractility <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4014399&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4014399</a>]</span><br /> -
|
|
Fatty and fibrofatty replacement of cardiomyocytes in right ventricle <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4014400&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4014400</a>]</span><br /> -
|
|
Fibrosis of left ventricle <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4014401&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4014401</a>]</span><br /> -
|
|
Apical aneurysm, right ventricle (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4014402&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4014402</a>]</span><br /> -
|
|
Excessive trabeculation in right ventricle (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4014403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4014403</a>]</span><br /> -
|
|
Syncope (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/272030005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">272030005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271594007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271594007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/309585006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">309585006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R55" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R55</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3541349&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3541349</a>, <a href="https://bioportal.bioontology.org/search?q=C0039070&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039070</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001279" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001279</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0007185" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007185</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001279" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001279</a>]</span><br /> -
|
|
Premature ventricular beats <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/251175005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">251175005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I49.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I49.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006682" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006682</a>]</span><br /> -
|
|
Ventricular tachycardia, nonsustained <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/444658006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">444658006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2919575&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2919575</a>]</span><br /> -
|
|
Incomplete right bundle branch block (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/251124007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">251124007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0262525&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0262525</a>, <a href="https://bioportal.bioontology.org/search?q=C2215972&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2215972</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:6000313" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:6000313</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:6000313" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:6000313</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</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">
|
|
<em> Skin </em>
|
|
</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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|
- Palmoplantar keratoderma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/706885006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">706885006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551675&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551675</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000982" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000982</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000982" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000982</a>]</span><br /> -
|
|
Striated keratoderma of palms (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4015204&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4015204</a>]</span><br /> -
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Focal keratoderma of soles (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230520&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230520</a>]</span><br /> -
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Hyperkeratosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254666005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254666005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399955009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399955009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26996000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26996000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0870082&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0870082</a>, <a href="https://bioportal.bioontology.org/search?q=C0022593&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022593</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000962</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000962</a>]</span><br /> -
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|
Fissuring <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95321009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95321009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/134292000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">134292000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/31478005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">31478005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/47393002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">47393002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0332469&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0332469</a>, <a href="https://bioportal.bioontology.org/search?q=C0221245&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221245</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031057" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031057</a>]</span><br /> -
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Erythrokeratodermia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276713&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276713</a>]</span><br /> -
|
|
Ichthyosis (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/782957005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">782957005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13059002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13059002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/757.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">757.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020758</a>, <a href="https://bioportal.bioontology.org/search?q=C0020757&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020757</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008064" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008064</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008064" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008064</a>]</span><br /> -
|
|
Pruritis (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/418290006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">418290006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/418363000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">418363000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/424492005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">424492005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L29.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L29.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L29" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L29</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0033774&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033774</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000989" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000989</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> Skin Histology </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Psoriasiform hyperplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3281279&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3281279</a>]</span><br /> -
|
|
Reduced granular cell layer <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4314443&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4314443</a>]</span><br /> -
|
|
Compact orthohyperkeratosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4314442&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4314442</a>]</span><br /> -
|
|
Parakeratosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/200766001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">200766001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65068000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65068000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030436&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030436</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001036" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001036</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001036" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001036</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> Nails </em>
|
|
</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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- Onychodystrophy (in some patients) <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=C3279947&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279947</a>, <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 /> -
|
|
Leukonychia (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111202002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111202002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240182&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240182</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001820" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001820</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001820" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001820</a>]</span><br /> -
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Brittle nails (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/69192004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">69192004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0546956&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0546956</a>, <a href="https://bioportal.bioontology.org/search?q=C5779504&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5779504</a>, <a href="https://bioportal.bioontology.org/search?q=C1856963&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856963</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030804" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030804</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001808</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001808</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> Hair </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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- Woolly hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0343073&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0343073</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002224" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002224</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002224" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002224</a>]</span><br /> -
|
|
Diffuse hypotrichosis (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4314441&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4314441</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MISCELLANEOUS </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Risk of sudden death due to cardiac arrhythmias<br /> -
|
|
Tooth agenesis ranges from one missing tooth to marked oligodontia<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the desmoplakin gene (DSP, <a href="/entry/125647#0015">125647.0015</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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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="text" class="mim-anchor"></a>
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<p>A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy with woolly hair, palmoplantar keratoderma, and tooth agenesis (DCWHKTA) is caused by heterozygous mutation in the desmoplakin gene (DSP; <a href="/entry/125647">125647</a>).</p><p>Carvajal syndrome (DCWHK; <a href="/entry/605676">605676</a>), which has overlapping features but no abnormalities of dentition, is caused by homozygous mutation in DSP.</p>
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<div class="mim-changed mim-change"><p>Dilated cardiomyopathy with woolly hair, palmoplantar keratoderma, and tooth agenesis (DCWHKTA) is an autosomal dominant disorder characterized by these cardinal features (<a href="#4" class="mim-tip-reference" title="Norgett, E. E., Lucke, T. W., Bowers, B., Munro, C. S., Leigh, I. M., Kelsell, D. P. <strong>Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and wooly hair associated with a novel insertion mutation in desmoplakin. (Letter)</strong> J. Invest. Derm. 126: 1651-1654, 2006. Note: Erratum: J. Invest. Derm. 126: 2735 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16628197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16628197</a>] [<a href="https://doi.org/10.1038/sj.jid.5700291" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16628197">Norgett et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16628197" 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></div>
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<p><a href="#4" class="mim-tip-reference" title="Norgett, E. E., Lucke, T. W., Bowers, B., Munro, C. S., Leigh, I. M., Kelsell, D. P. <strong>Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and wooly hair associated with a novel insertion mutation in desmoplakin. (Letter)</strong> J. Invest. Derm. 126: 1651-1654, 2006. Note: Erratum: J. Invest. Derm. 126: 2735 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16628197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16628197</a>] [<a href="https://doi.org/10.1038/sj.jid.5700291" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16628197">Norgett et al. (2006)</a> reported a father and daughter with palmoplantar keratoderma, woolly hair, and cardiomyopathy. The proband presented at 3 years of age with hyperkeratosis and fissuring of the skin of the palms and soles, which also extended over the Achilles tendon, and she had woolly, unmanageable hair. One month after her birth, her father, who apparently had similar hair and skin, died suddenly from arrhythmogenic right ventricular dysplasia. There were no other affected family members. Examination of the proband at 14 years of age showed psoriasiform hyperkeratosis of the knees, elbows, and shins, with prominence around hair follicles. She had striate keratoderma of the palms and focal keratoderma of the soles, which spread over the Achilles tendon. Her hair was kinky and woolly, with short sparse hairs in the frontal scalp. She also had absent molars and premolar teeth but normal nails and normal hearing. Echocardiography (ECG) suggested biventricular cardiomyopathy, and 24-hour electrocardiography showed nonsustained ventricular tachycardia which, together with the history of sudden death in her father, prompted implantation of a cardiac defibrillator. Repeat echocardiograms showed progression of left ventricular dilation with severe global impairment of systolic function, and she died at age 18 years due to persistent dysrhythmia despite activation of the defibrillator. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16628197" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Chalabreysse, L., Senni, F., Bruyere, P., Aime, B., Ollagnier, C., Bozio, A., Bouvagnet, P. <strong>A new hypo/oligodontia syndrome: Carvajal Naxos syndrome secondary to desmoplakin-dominant mutations.</strong> J. Dent. Res. 90: 58-64, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20940358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20940358</a>] [<a href="https://doi.org/10.1177/0022034510383984" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20940358">Chalabreysse et al. (2011)</a> described a father and 2 sons with palmoplantar keratoderma, woolly hair, tooth agenesis ranging from 1 missing tooth to oligodontia, and mild to severe dilated cardiomyopathy. The mother and another son and daughter were unaffected, as were the parents and sibship of the father. The proband had episodes of loss of consciousness that had begun in his teens as well as electrocardiographic abnormalities, including incomplete right bundle branch block and nonsustained ventricular tachycardia; he required heart transplantation in his 20s due to severe cardiomyopathy. He also had marked oligodontia, with only 4 permanent molars and several persisting primary teeth. His older brother and father had milder dilated cardiomyopathy and fewer missing teeth. The proband's explanted heart showed biventricular enlargement with no hypertrophy; microscopic examination revealed fatty and fibrofatty replacement in the anterior and posterior walls of the right ventricle, most severe in the epicardial layer, as well as in the interventricular septum. The left ventricle had no fatty replacement, but showed areas of mutilating fibrosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20940358" 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="Boule, S., Fressart, V., Laux, D., Mallet, A., Simon, F., de Groote, P., Bonnet, D., Klug, D., Charron, P. <strong>Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia.</strong> Int. J. Cardiol. 161: 50-52, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22795705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22795705</a>] [<a href="https://doi.org/10.1016/j.ijcard.2012.06.068" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22795705">Boule et al. (2012)</a> studied a father and son with dilated cardiomyopathy who also exhibited woolly hair, palmoplantar keratoderma, and tooth agenesis. The 29-year-old father had been diagnosed with dilated cardiomyopathy and left ventricular dysfunction at 12 years of age after the incidental finding of an enlarged heart on chest x-ray. Woolly hair, palmoplantar keratoderma, leukonychia, and absence of third molars (agenesis of 4 teeth) were noted. The patient had no history of syncope or palpitations; electrocardiogram showed QRS prolongation and depolarization abnormalities. ECG showed biventricular dilation and hypokinesia, with apical aneurysm and excessive trabeculations of the right ventricle. Holter electrocardiogram registered more than 500 premature ventricular beats per day. A diagnosis of arrhythmogenic right ventricular cardiomyopathy was made, and a cardioverter-defibrillator was implanted. His 10-year-old son had woolly hair, palmoplantar keratoderma, brittle nails without leukonychia, and agenesis of 10 teeth. At 5 years of age his echocardiogram was normal, but at age 10 years, after an episode of chest pain with significant elevation of cardiac troponin, electrocardiography showed multiple isolated premature ventricular beats with epsilon wave in V1, and ECG showed dilation of the right ventricular infundibulum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22795705" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Clinical Variability</em></strong></p><p>
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<a href="#2" class="mim-tip-reference" title="Boyden, L. M., Kam, C. Y., Hernandez-Martin, A., Zhou, J., Craiglow, B. G., Sidbury, R., Mathes, E. F., Maguiness, S. M., Crumrine, D. A., Williams, M. L., Hu, R., Lifton, R. P., Elias, P. M., Green, K. J., Choate, K. A. <strong>Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.</strong> Hum. Molec. Genet. 25: 348-357, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26604139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26604139</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26604139[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/10.1093/hmg/ddv481" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26604139">Boyden et al. (2016)</a> described 3 unrelated children, 1 girl and 2 boys, who had erythrokeratodermia at birth or shortly thereafter and also exhibited scant woolly hair, sparse or absent eyebrows and eyelashes, enamel defects with multiple caries of primary teeth and variable tooth agenesis of secondary dentition, palmoplantar keratoderma, onychodystrophy of all nails, and moderate to severe dilated cardiomyopathy. One of the boys died at age 3 years from heart failure, whereas the remaining 2 children had relatively preserved ventricular function. All 3 exhibited marked erythema of the skin, associated with ichthyotic fine white scaling and pruritus that was unresponsive to oral or systemic therapy. Skin histopathology showed psoriasiform hyperplasia and a reduced granular cell layer, as well as compact orthohyperkeratosis in 2 patients and parakeratosis in 1 patient. Serum IgE and eosinophil counts were normal. <a href="#2" class="mim-tip-reference" title="Boyden, L. M., Kam, C. Y., Hernandez-Martin, A., Zhou, J., Craiglow, B. G., Sidbury, R., Mathes, E. F., Maguiness, S. M., Crumrine, D. A., Williams, M. L., Hu, R., Lifton, R. P., Elias, P. M., Green, K. J., Choate, K. A. <strong>Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.</strong> Hum. Molec. Genet. 25: 348-357, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26604139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26604139</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26604139[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/10.1093/hmg/ddv481" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26604139">Boyden et al. (2016)</a> designated the phenotype 'erythrokeratodermia-cardiomyopathy (EKC)' syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26604139" 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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<div class="mim-changed mim-change"><p>The transmission pattern of DCWHKTA in the family reported by <a href="#3" class="mim-tip-reference" title="Chalabreysse, L., Senni, F., Bruyere, P., Aime, B., Ollagnier, C., Bozio, A., Bouvagnet, P. <strong>A new hypo/oligodontia syndrome: Carvajal Naxos syndrome secondary to desmoplakin-dominant mutations.</strong> J. Dent. Res. 90: 58-64, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20940358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20940358</a>] [<a href="https://doi.org/10.1177/0022034510383984" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20940358">Chalabreysse et al. (2011)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20940358" 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></div>
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<p>In a DNA sample from a girl who died at age 18 years with dilated cardiomyopathy, palmoplantar keratoderma, woolly hair, and tooth agenesis, <a href="#4" class="mim-tip-reference" title="Norgett, E. E., Lucke, T. W., Bowers, B., Munro, C. S., Leigh, I. M., Kelsell, D. P. <strong>Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and wooly hair associated with a novel insertion mutation in desmoplakin. (Letter)</strong> J. Invest. Derm. 126: 1651-1654, 2006. Note: Erratum: J. Invest. Derm. 126: 2735 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16628197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16628197</a>] [<a href="https://doi.org/10.1038/sj.jid.5700291" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16628197">Norgett et al. (2006)</a> analyzed the candidate gene desmoplakin (DSP; <a href="/entry/125647">125647</a>) and identified a heterozygous 30-bp insertion (<a href="/entry/125647#0015">125647.0015</a>). The mutation was not present in her unaffected mother or 160 control chromosomes; no DNA was available from her deceased, similarly affected father. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16628197" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Chalabreysse, L., Senni, F., Bruyere, P., Aime, B., Ollagnier, C., Bozio, A., Bouvagnet, P. <strong>A new hypo/oligodontia syndrome: Carvajal Naxos syndrome secondary to desmoplakin-dominant mutations.</strong> J. Dent. Res. 90: 58-64, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20940358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20940358</a>] [<a href="https://doi.org/10.1177/0022034510383984" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20940358">Chalabreysse et al. (2011)</a> screened the DSP and plakoglobin (JUP; <a href="/entry/173325">173325</a>) genes in the proband of a family with DCWHKTA and identified a heterozygous missense mutation in the DSP gene (S597L; <a href="/entry/125647#0016">125647.0016</a>); no mutations were found in the JUP gene. The proband's affected father was also heterozygous for the DSP missense mutation, but his affected older brother declined genetic testing. The mutation was not found in the unaffected mother, paternal grandparents, or 2 unaffected sibs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20940358" 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 father and son with DCWHKTA, <a href="#1" class="mim-tip-reference" title="Boule, S., Fressart, V., Laux, D., Mallet, A., Simon, F., de Groote, P., Bonnet, D., Klug, D., Charron, P. <strong>Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia.</strong> Int. J. Cardiol. 161: 50-52, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22795705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22795705</a>] [<a href="https://doi.org/10.1016/j.ijcard.2012.06.068" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22795705">Boule et al. (2012)</a> analyzed the desmosomal genes DSP, JUP, PKP2 (<a href="/entry/602861">602861</a>), DSG2 (<a href="/entry/125671">125671</a>), and DSC2 (<a href="/entry/125645">125645</a>), and identified heterozygosity for a missense mutation in the DSP gene (T564I; <a href="/entry/125647#0017">125647.0017</a>). No mutations were detected in the other genes, and the DSP mutation was not found in 600 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22795705" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Boyden, L. M., Kam, C. Y., Hernandez-Martin, A., Zhou, J., Craiglow, B. G., Sidbury, R., Mathes, E. F., Maguiness, S. M., Crumrine, D. A., Williams, M. L., Hu, R., Lifton, R. P., Elias, P. M., Green, K. J., Choate, K. A. <strong>Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.</strong> Hum. Molec. Genet. 25: 348-357, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26604139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26604139</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26604139[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/10.1093/hmg/ddv481" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26604139">Boyden et al. (2016)</a> analyzed exome data from a cohort of 496 kindreds with disorders of keratinization and identified 3 unrelated children with dilated cardiomyopathy, woolly hair, erythrokeratoderma, and tooth agenesis who were heterozygous for de novo tightly clustered missense mutations in the DSP gene: Q616P (<a href="/entry/125647#0021">125647.0021</a>), H618P (<a href="/entry/125647#0022">125647.0022</a>), and L622P (<a href="/entry/125647#0023">125647.0023</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26604139" 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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Boule, S., Fressart, V., Laux, D., Mallet, A., Simon, F., de Groote, P., Bonnet, D., Klug, D., Charron, P.
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<strong>Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia.</strong>
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Int. J. Cardiol. 161: 50-52, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22795705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22795705</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22795705" 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.ijcard.2012.06.068" target="_blank">Full Text</a>]
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<a id="Boyden2016" class="mim-anchor"></a>
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Boyden, L. M., Kam, C. Y., Hernandez-Martin, A., Zhou, J., Craiglow, B. G., Sidbury, R., Mathes, E. F., Maguiness, S. M., Crumrine, D. A., Williams, M. L., Hu, R., Lifton, R. P., Elias, P. M., Green, K. J., Choate, K. A.
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<strong>Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.</strong>
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Hum. Molec. Genet. 25: 348-357, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26604139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26604139</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26604139[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=26604139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddv481" target="_blank">Full Text</a>]
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Chalabreysse, L., Senni, F., Bruyere, P., Aime, B., Ollagnier, C., Bozio, A., Bouvagnet, P.
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<strong>A new hypo/oligodontia syndrome: Carvajal Naxos syndrome secondary to desmoplakin-dominant mutations.</strong>
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J. Dent. Res. 90: 58-64, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20940358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20940358</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20940358" 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/10.1177/0022034510383984" target="_blank">Full Text</a>]
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Norgett, E. E., Lucke, T. W., Bowers, B., Munro, C. S., Leigh, I. M., Kelsell, D. P.
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<strong>Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and wooly hair associated with a novel insertion mutation in desmoplakin. (Letter)</strong>
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J. Invest. Derm. 126: 1651-1654, 2006. Note: Erratum: J. Invest. Derm. 126: 2735 only, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16628197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16628197</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16628197" 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/sj.jid.5700291" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 11/22/2016
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Marla J. F. O'Neill : 5/30/2014
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alopez : 03/13/2025
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alopez : 03/13/2025<br>alopez : 11/22/2016<br>carol : 01/29/2015<br>carol : 11/18/2014<br>mcolton : 6/2/2014
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<strong>#</strong> 615821
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CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS; DCWHKTA
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<strong>ORPHA:</strong> 476096, 65282;
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6p24.3
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Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis
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Autosomal dominant
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3
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DSP
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125647
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<p>A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy with woolly hair, palmoplantar keratoderma, and tooth agenesis (DCWHKTA) is caused by heterozygous mutation in the desmoplakin gene (DSP; 125647).</p><p>Carvajal syndrome (DCWHK; 605676), which has overlapping features but no abnormalities of dentition, is caused by homozygous mutation in DSP.</p>
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<strong>Description</strong>
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<p>Dilated cardiomyopathy with woolly hair, palmoplantar keratoderma, and tooth agenesis (DCWHKTA) is an autosomal dominant disorder characterized by these cardinal features (Norgett et al., 2006). </p>
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<p>Norgett et al. (2006) reported a father and daughter with palmoplantar keratoderma, woolly hair, and cardiomyopathy. The proband presented at 3 years of age with hyperkeratosis and fissuring of the skin of the palms and soles, which also extended over the Achilles tendon, and she had woolly, unmanageable hair. One month after her birth, her father, who apparently had similar hair and skin, died suddenly from arrhythmogenic right ventricular dysplasia. There were no other affected family members. Examination of the proband at 14 years of age showed psoriasiform hyperkeratosis of the knees, elbows, and shins, with prominence around hair follicles. She had striate keratoderma of the palms and focal keratoderma of the soles, which spread over the Achilles tendon. Her hair was kinky and woolly, with short sparse hairs in the frontal scalp. She also had absent molars and premolar teeth but normal nails and normal hearing. Echocardiography (ECG) suggested biventricular cardiomyopathy, and 24-hour electrocardiography showed nonsustained ventricular tachycardia which, together with the history of sudden death in her father, prompted implantation of a cardiac defibrillator. Repeat echocardiograms showed progression of left ventricular dilation with severe global impairment of systolic function, and she died at age 18 years due to persistent dysrhythmia despite activation of the defibrillator. </p><p>Chalabreysse et al. (2011) described a father and 2 sons with palmoplantar keratoderma, woolly hair, tooth agenesis ranging from 1 missing tooth to oligodontia, and mild to severe dilated cardiomyopathy. The mother and another son and daughter were unaffected, as were the parents and sibship of the father. The proband had episodes of loss of consciousness that had begun in his teens as well as electrocardiographic abnormalities, including incomplete right bundle branch block and nonsustained ventricular tachycardia; he required heart transplantation in his 20s due to severe cardiomyopathy. He also had marked oligodontia, with only 4 permanent molars and several persisting primary teeth. His older brother and father had milder dilated cardiomyopathy and fewer missing teeth. The proband's explanted heart showed biventricular enlargement with no hypertrophy; microscopic examination revealed fatty and fibrofatty replacement in the anterior and posterior walls of the right ventricle, most severe in the epicardial layer, as well as in the interventricular septum. The left ventricle had no fatty replacement, but showed areas of mutilating fibrosis. </p><p>Boule et al. (2012) studied a father and son with dilated cardiomyopathy who also exhibited woolly hair, palmoplantar keratoderma, and tooth agenesis. The 29-year-old father had been diagnosed with dilated cardiomyopathy and left ventricular dysfunction at 12 years of age after the incidental finding of an enlarged heart on chest x-ray. Woolly hair, palmoplantar keratoderma, leukonychia, and absence of third molars (agenesis of 4 teeth) were noted. The patient had no history of syncope or palpitations; electrocardiogram showed QRS prolongation and depolarization abnormalities. ECG showed biventricular dilation and hypokinesia, with apical aneurysm and excessive trabeculations of the right ventricle. Holter electrocardiogram registered more than 500 premature ventricular beats per day. A diagnosis of arrhythmogenic right ventricular cardiomyopathy was made, and a cardioverter-defibrillator was implanted. His 10-year-old son had woolly hair, palmoplantar keratoderma, brittle nails without leukonychia, and agenesis of 10 teeth. At 5 years of age his echocardiogram was normal, but at age 10 years, after an episode of chest pain with significant elevation of cardiac troponin, electrocardiography showed multiple isolated premature ventricular beats with epsilon wave in V1, and ECG showed dilation of the right ventricular infundibulum. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Boyden et al. (2016) described 3 unrelated children, 1 girl and 2 boys, who had erythrokeratodermia at birth or shortly thereafter and also exhibited scant woolly hair, sparse or absent eyebrows and eyelashes, enamel defects with multiple caries of primary teeth and variable tooth agenesis of secondary dentition, palmoplantar keratoderma, onychodystrophy of all nails, and moderate to severe dilated cardiomyopathy. One of the boys died at age 3 years from heart failure, whereas the remaining 2 children had relatively preserved ventricular function. All 3 exhibited marked erythema of the skin, associated with ichthyotic fine white scaling and pruritus that was unresponsive to oral or systemic therapy. Skin histopathology showed psoriasiform hyperplasia and a reduced granular cell layer, as well as compact orthohyperkeratosis in 2 patients and parakeratosis in 1 patient. Serum IgE and eosinophil counts were normal. Boyden et al. (2016) designated the phenotype 'erythrokeratodermia-cardiomyopathy (EKC)' syndrome. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of DCWHKTA in the family reported by Chalabreysse et al. (2011) was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In a DNA sample from a girl who died at age 18 years with dilated cardiomyopathy, palmoplantar keratoderma, woolly hair, and tooth agenesis, Norgett et al. (2006) analyzed the candidate gene desmoplakin (DSP; 125647) and identified a heterozygous 30-bp insertion (125647.0015). The mutation was not present in her unaffected mother or 160 control chromosomes; no DNA was available from her deceased, similarly affected father. </p><p>Chalabreysse et al. (2011) screened the DSP and plakoglobin (JUP; 173325) genes in the proband of a family with DCWHKTA and identified a heterozygous missense mutation in the DSP gene (S597L; 125647.0016); no mutations were found in the JUP gene. The proband's affected father was also heterozygous for the DSP missense mutation, but his affected older brother declined genetic testing. The mutation was not found in the unaffected mother, paternal grandparents, or 2 unaffected sibs. </p><p>In a father and son with DCWHKTA, Boule et al. (2012) analyzed the desmosomal genes DSP, JUP, PKP2 (602861), DSG2 (125671), and DSC2 (125645), and identified heterozygosity for a missense mutation in the DSP gene (T564I; 125647.0017). No mutations were detected in the other genes, and the DSP mutation was not found in 600 control chromosomes. </p><p>Boyden et al. (2016) analyzed exome data from a cohort of 496 kindreds with disorders of keratinization and identified 3 unrelated children with dilated cardiomyopathy, woolly hair, erythrokeratoderma, and tooth agenesis who were heterozygous for de novo tightly clustered missense mutations in the DSP gene: Q616P (125647.0021), H618P (125647.0022), and L622P (125647.0023). </p>
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Boule, S., Fressart, V., Laux, D., Mallet, A., Simon, F., de Groote, P., Bonnet, D., Klug, D., Charron, P.
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<strong>Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia.</strong>
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Int. J. Cardiol. 161: 50-52, 2012.
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[PubMed: 22795705]
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[Full Text: https://doi.org/10.1016/j.ijcard.2012.06.068]
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Boyden, L. M., Kam, C. Y., Hernandez-Martin, A., Zhou, J., Craiglow, B. G., Sidbury, R., Mathes, E. F., Maguiness, S. M., Crumrine, D. A., Williams, M. L., Hu, R., Lifton, R. P., Elias, P. M., Green, K. J., Choate, K. A.
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<strong>Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.</strong>
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Hum. Molec. Genet. 25: 348-357, 2016.
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[PubMed: 26604139]
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[Full Text: https://doi.org/10.1093/hmg/ddv481]
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Chalabreysse, L., Senni, F., Bruyere, P., Aime, B., Ollagnier, C., Bozio, A., Bouvagnet, P.
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<strong>A new hypo/oligodontia syndrome: Carvajal Naxos syndrome secondary to desmoplakin-dominant mutations.</strong>
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J. Dent. Res. 90: 58-64, 2011.
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[PubMed: 20940358]
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[Full Text: https://doi.org/10.1177/0022034510383984]
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Norgett, E. E., Lucke, T. W., Bowers, B., Munro, C. S., Leigh, I. M., Kelsell, D. P.
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<strong>Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and wooly hair associated with a novel insertion mutation in desmoplakin. (Letter)</strong>
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J. Invest. Derm. 126: 1651-1654, 2006. Note: Erratum: J. Invest. Derm. 126: 2735 only, 2006.
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[PubMed: 16628197]
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[Full Text: https://doi.org/10.1038/sj.jid.5700291]
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Marla J. F. O'Neill - updated : 11/22/2016
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Marla J. F. O'Neill : 5/30/2014
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