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Entry
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- #615425 - EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY; EBS3
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- OMIM
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<p>
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<span class="h4">#615425</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/615425"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS131760"> <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="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<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><a href="https://clinicaltrials.gov/search?cond=EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY" 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=23043&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/NBK1369/" 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.ncbi.nlm.nih.gov/gtr/all/tests/?term=615425[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=412181" 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 style="display: table-cell;">Animal Models</div>
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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:4644" 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/615425" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:4644" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span 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 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> 412181<br />
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<strong>DO:</strong> 4644<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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615425
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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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EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY; EBS3
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</span>
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</h3>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<td>
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<span class="mim-font">
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<a href="/geneMap/6/611?start=-3&limit=10&highlight=611">
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6p12.1
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency
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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/615425"> 615425 </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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<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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DST
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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/113810"> 113810 </a>
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</span>
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</td>
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<a href="/clinicalSynopsis/615425" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<a href="/phenotypicSeries/PS131760" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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</button>
|
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</div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/615425" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/615425" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
|
</div>
|
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|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<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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|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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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>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Blistering, mild (occurs mainly on ankles and feet and in response to trauma) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3809471&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3809471</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/339008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">339008</a>]</span><br /> -
|
|
Large fluid-filled bullae (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5936347&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5936347</a>]</span><br /> -
|
|
Calluses <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/201040000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">201040000</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">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3841385&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3841385</a>, <a href="https://bioportal.bioontology.org/search?q=C0376154&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0376154</a>]</span><br /> -
|
|
Keratoderma (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/707209001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">707209001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022579&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022579</a>]</span><br /> -
|
|
Postinflammatory hypopigmentation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/277787003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">277787003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27799005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27799005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0333612&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0333612</a>]</span><br /> -
|
|
Postinflammatory hyperpigmentation (uncommon) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/238699007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">238699007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55519009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55519009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L81.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L81.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0333616&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0333616</a>]</span><br /> -
|
|
Delayed wound healing (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/789507005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">789507005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5200936&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5200936</a>]</span><br /> -
|
|
Atrophic scarring, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675687</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409766009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409766009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/239172000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">239172000</a>]</span><br /> -
|
|
Hyperhidrosis (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/312230002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">312230002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020458&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020458</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000975" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000975</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000975" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000975</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin Histology </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Decreased immunostaining for BPAG1-e <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3809472&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3809472</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Electron Microscopy </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hemidesmosomes show poorly formed inner plaques <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3809473&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3809473</a>]</span><br /> -
|
|
Lucent zone between keratin filaments and outer hemidesmosomal plaques <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3809474&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3809474</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nails </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Nail dystrophy (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=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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
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|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Variable age at onset (primarily in childhood)<br /> -
|
|
Phenotypic variability <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837514</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 /> -
|
|
Blistering may worsen during the summer<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 dystonin gene (DST, <a href="/entry/113810#0002">113810.0002</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>
|
|
Epidermolysis bullosa simplex
|
|
- <a href="/phenotypicSeries/PS131760">PS131760</a>
|
|
- 18 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/900?start=-3&limit=10&highlight=900"> 3q27.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617294"> Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy </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/617294"> 617294 </a>
|
|
</span>
|
|
</td>
|
|
<td>
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|
<span class="mim-font">
|
|
<a href="/entry/611295"> KLHL24 </a>
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611295"> 611295 </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">
|
|
|
|
<a href="/geneMap/6/611?start=-3&limit=10&highlight=611"> 6p12.1 </a>
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615425"> Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency </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/615425"> 615425 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/113810"> DST </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/113810"> 113810 </a>
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</span>
|
|
</td>
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</tr>
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|
|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/621?start=-3&limit=10&highlight=621"> 8q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612138"> Epidermolysis bullosa simplex 5C, with pyloric atresia </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/612138"> 612138 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601282"> PLEC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601282"> 601282 </a>
|
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</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/621?start=-3&limit=10&highlight=621"> 8q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/226670"> Epidermolysis bullosa simplex 5B, with muscular dystrophy </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/226670"> 226670 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601282"> PLEC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601282"> 601282 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/621?start=-3&limit=10&highlight=621"> 8q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616487"> ?Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive </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/616487"> 616487 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601282"> PLEC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601282"> 601282 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/621?start=-3&limit=10&highlight=621"> 8q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131950"> Epidermolysis bullosa simplex 5A, Ogna type </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/131950"> 131950 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601282"> PLEC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601282"> 601282 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/48?start=-3&limit=10&highlight=48"> 11p15.5 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609057"> Epidermolysis bullosa simplex 7, with nephropathy and deafness </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/609057"> 609057 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602243"> CD151 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602243"> 602243 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/899?start=-3&limit=10&highlight=899"> 11q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615028"> Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive </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/615028"> 615028 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612878"> EXPH5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612878"> 612878 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/410?start=-3&limit=10&highlight=410"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619594"> Epidermolysis bullosa simplex 2C, localized </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/619594"> 619594 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> KRT5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> 148040 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/410?start=-3&limit=10&highlight=410"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609352"> Epidermolysis bullosa simplex 2E, with migratory circinate erythema </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/609352"> 609352 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> KRT5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> 148040 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/410?start=-3&limit=10&highlight=410"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619588"> Epidermolysis bullosa simplex 2B, generalized intermediate </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/619588"> 619588 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> KRT5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> 148040 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/410?start=-3&limit=10&highlight=410"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131960"> Epidermolysis bullosa simplex 2F, with mottled pigmentation </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/131960"> 131960 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> KRT5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> 148040 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/410?start=-3&limit=10&highlight=410"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619555"> Epidermolysis bullosa simplex 2A, generalized severe </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/619555"> 619555 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> KRT5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> 148040 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/410?start=-3&limit=10&highlight=410"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619599"> Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive </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/619599"> 619599 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
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<a href="/entry/601001"> Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive </a>
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive localized or generalized intermediate epidermolysis bullosa simplex-3 with BP230 deficiency (EBS3) is caused by homozygous or compound heterozygous mutation in the DST (BPAG1) gene (<a href="/entry/113810">113810</a>) on chromosome 6p12.</p>
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<p>Localized or generalized intermediate epidermolysis bullosa simplex-3 with BP230 deficiency (EBS3) is a mild autosomal recessive dermatologic disorder characterized by trauma-induced blistering mainly occurring on the feet and ankles. Ultrastructural analysis of skin biopsy shows abnormal hemidesmosomes with poorly formed inner plaques (summary by <a href="#3" class="mim-tip-reference" title="Liu, L., Dopping-Hepenstal, P. J., Lovell, P. A., Michael, M., Horn, H., Fong, K., Lai-Cheong, J. E., Mellerio, J. E., Parsons, M., McGrath, J. A. <strong>Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression. (Letter)</strong> J. Invest. Derm. 132: 742-744, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22113475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22113475</a>] [<a href="https://doi.org/10.1038/jid.2011.379" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22113475">Liu et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22113475" 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>For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (<a href="/entry/131760">131760</a>).</p>
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<p><a href="#2" class="mim-tip-reference" title="Groves, R. W., Liu, L., Dopping-Hepenstal, P. J., Markus, H. S., Lovell, P. A., Ozoemena, L., Lai-Cheong, J. E., Gawler, J., Owaribe, K., Hashimoto, T., Mellerio, J. E., Mee, J. B., McGrath, J. A. <strong>A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.</strong> J. Invest. Derm. 130: 1551-1557, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20164846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20164846</a>] [<a href="https://doi.org/10.1038/jid.2010.19" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20164846">Groves et al. (2010)</a> reported a 38-year-old Kuwaiti man, born of consanguineous parents, with epidermolysis bullosa simplex. He had a lifelong history of trauma-induced spontaneous blisters and erosions particularly affecting his ankles and feet, although the face, trunk, and more proximal limbs were also affected. Blisters and erosions healed without delay, scarring, or milia formation. He also had nail dystrophy and moderate dental caries, but hair was normal and there was no history of mucosal blistering. Electron microscopic analysis of a skin biopsy showed discrete abnormalities of hemidesmosomes, with poorly formed inner plaques leading to a lucent zone between keratin filaments and outer hemidesmosomal plaques, which showed no gross abnormalities. Immunofluorescence staining showed absence of BPAG1-e at the dermal-epidermal junction and in keratinocytes. There was also decreased immunoreactivity for beta-4-integrin (ITGB4; <a href="/entry/147557">147557</a>), PLEC1 (<a href="/entry/601282">601282</a>), and COL17A1 (<a href="/entry/113811">113811</a>). The patient's 4 sibs, parents, and 2 children had no skin abnormalities. In addition to skin blistering, the patient had CADASIL (<a href="/entry/125310">125310</a>) resulting from a heterozygous mutation in the NOTCH3 gene (<a href="/entry/600276">600276</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20164846" 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="Liu, L., Dopping-Hepenstal, P. J., Lovell, P. A., Michael, M., Horn, H., Fong, K., Lai-Cheong, J. E., Mellerio, J. E., Parsons, M., McGrath, J. A. <strong>Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression. (Letter)</strong> J. Invest. Derm. 132: 742-744, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22113475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22113475</a>] [<a href="https://doi.org/10.1038/jid.2011.379" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22113475">Liu et al. (2012)</a> reported a 34-year-old Iranian woman with a lifelong skin blistering disorder that was worse during the summer and after trauma, such as at sites of friction from clothing. Blistering occurred mainly on the ankles, feet, dorsal aspects of the hands, and elbows. She had no hair, nail, mucosal, or genital involvement. Subtle atrophic scarring was present on the shins, ankles, elbows, dorsal aspects of the hands, and lower back. Electron microscopy of skin biopsy showed abnormal hemidesmosomes with poorly formed inner plaques and a lucent zone between keratin filament sand outer hemidesmosomal plaques. The keratin filaments extended to where the inner plaques should be, but did not associate with any attachment structures. Immunostaining for BPAG1-e showed complete absence of the protein in the patient's skin sample. Her father and 2 of her 3 children also had mild blistering, but skin biopsies and DNA were not available from those individuals. None of the individuals had neurologic abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22113475" 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="Ganani, D., Malovitski, K., Sarig, O., Gat, A., Sprecher, E., Samuelov, L. <strong>Epidermolysis bullosa simplex due to bi-allelic DST mutations: case series and review of the literature.</strong> Pediat. Derm. 38: 436-441, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33471381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33471381</a>] [<a href="https://doi.org/10.1111/pde.14477" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33471381">Ganani et al. (2021)</a> described 5 patients from 3 families with localized EBS and mutation in the DST gene. Family A was a consanguineous Israeli family of Iraqi origin in which 2 sisters, 48 and 49 years of age, had childhood onset of blisters, primarily of the feet and hands as well as other areas of mechanical pressure. Other features included postinflammatory hypopigmentation, delayed wound healing, calluses, and asymptomatic plantar keratoderma, and 1 of the sisters had nail dystrophy. On examination, both had clear fluid-filled bullae, on the dorsum of a foot and on a finger. Skin biopsy from the edge of a blister revealed subepidermal separation with positive collage IV (see <a href="/entry/120130">120130</a>) staining at the base of the blister. Their father and paternal grandmother also reported recurrent blisters. In family B, 4 Israeli sibs of Indian descent had EBS, of which 2 were available for study. One was a 58-year-old woman who had blisters mainly of the lower extremities following friction or mechanical pressure from age 10 years. She also reported nail dystrophy, pressure-induced calluses, and postinflammatory hypopigmentation. Her 70-year-old brother first noted acral blisters involving the soles around age 20 years; examination showed fluid-filled bullae at the right medial ankle and dorsal aspect of the feet. In family C, also Israeli of Indian origin, the proband was an 8-year-old boy who developed blistering over the lower legs and feet at 3 years of age. Examination showed remnants of blisters on the dorsum of the right foot with residual postinflammatory hypopigmentation. The authors noted that the findings in these patients showed phenotypic variability, including atypically large bullae on the dorsal aspect of the feet, as well as variable ages at presentation, even within the same family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33471381" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of EBSB2 in the family reported by <a href="#2" class="mim-tip-reference" title="Groves, R. W., Liu, L., Dopping-Hepenstal, P. J., Markus, H. S., Lovell, P. A., Ozoemena, L., Lai-Cheong, J. E., Gawler, J., Owaribe, K., Hashimoto, T., Mellerio, J. E., Mee, J. B., McGrath, J. A. <strong>A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.</strong> J. Invest. Derm. 130: 1551-1557, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20164846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20164846</a>] [<a href="https://doi.org/10.1038/jid.2010.19" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20164846">Groves et al. (2010)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20164846" 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 Kuwaiti man with epidermolysis bullosa simplex, <a href="#2" class="mim-tip-reference" title="Groves, R. W., Liu, L., Dopping-Hepenstal, P. J., Markus, H. S., Lovell, P. A., Ozoemena, L., Lai-Cheong, J. E., Gawler, J., Owaribe, K., Hashimoto, T., Mellerio, J. E., Mee, J. B., McGrath, J. A. <strong>A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.</strong> J. Invest. Derm. 130: 1551-1557, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20164846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20164846</a>] [<a href="https://doi.org/10.1038/jid.2010.19" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20164846">Groves et al. (2010)</a> identified a homozygous truncating mutation in the DST gene (Q1124X; <a href="/entry/113810#0002">113810.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20164846" 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 34-year-old Iranian woman from a consanguineous family with epidermolysis bullosa simplex, <a href="#3" class="mim-tip-reference" title="Liu, L., Dopping-Hepenstal, P. J., Lovell, P. A., Michael, M., Horn, H., Fong, K., Lai-Cheong, J. E., Mellerio, J. E., Parsons, M., McGrath, J. A. <strong>Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression. (Letter)</strong> J. Invest. Derm. 132: 742-744, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22113475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22113475</a>] [<a href="https://doi.org/10.1038/jid.2011.379" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22113475">Liu et al. (2012)</a> identified a homozygous truncating mutation in the DST gene (R1249X; <a href="/entry/113810#0003">113810.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22113475" 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>By whole-exome and direct sequencing, <a href="#1" class="mim-tip-reference" title="Ganani, D., Malovitski, K., Sarig, O., Gat, A., Sprecher, E., Samuelov, L. <strong>Epidermolysis bullosa simplex due to bi-allelic DST mutations: case series and review of the literature.</strong> Pediat. Derm. 38: 436-441, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33471381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33471381</a>] [<a href="https://doi.org/10.1111/pde.14477" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33471381">Ganani et al. (2021)</a> identified biallelic mutations in the DST gene in affected members of 3 Israeli families with localized EBS: in family A, 2 sisters of Iraqi descent were homozygous for the previously reported Q1124X mutation (<a href="/entry/113810#0002">113810.0002</a>); in family C, an 8-year-old boy of Indian origin was homozygous for a 1-bp duplication (<a href="/entry/113810#0006">113810.0006</a>); and in family B, a brother and sister of Indian origin were compound heterozygous for the same 1-bp duplication and a 1-bp deletion (<a href="/entry/113810#0007">113810.0007</a>). Haplotype analysis did not support the existence of a founder mutation in the 2 families of Indian origin. Familial segregation was not reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33471381" 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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Ganani, D., Malovitski, K., Sarig, O., Gat, A., Sprecher, E., Samuelov, L.
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<strong>Epidermolysis bullosa simplex due to bi-allelic DST mutations: case series and review of the literature.</strong>
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Pediat. Derm. 38: 436-441, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33471381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33471381</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33471381" 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/10.1111/pde.14477" target="_blank">Full Text</a>]
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Groves, R. W., Liu, L., Dopping-Hepenstal, P. J., Markus, H. S., Lovell, P. A., Ozoemena, L., Lai-Cheong, J. E., Gawler, J., Owaribe, K., Hashimoto, T., Mellerio, J. E., Mee, J. B., McGrath, J. A.
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<strong>A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.</strong>
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J. Invest. Derm. 130: 1551-1557, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20164846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20164846</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20164846" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Liu, L., Dopping-Hepenstal, P. J., Lovell, P. A., Michael, M., Horn, H., Fong, K., Lai-Cheong, J. E., Mellerio, J. E., Parsons, M., McGrath, J. A.
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<strong>Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression. (Letter)</strong>
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J. Invest. Derm. 132: 742-744, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22113475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22113475</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22113475" 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/jid.2011.379" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 02/03/2022
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Cassandra L. Kniffin : 9/23/2013
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alopez : 04/10/2024
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alopez : 02/03/2022<br>alopez : 11/01/2021<br>alopez : 10/29/2021<br>carol : 08/10/2017<br>carol : 08/09/2017<br>alopez : 01/06/2017<br>carol : 10/24/2016<br>carol : 09/30/2013<br>ckniffin : 9/24/2013
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EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY; EBS3
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Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive localized or generalized intermediate epidermolysis bullosa simplex-3 with BP230 deficiency (EBS3) is caused by homozygous or compound heterozygous mutation in the DST (BPAG1) gene (113810) on chromosome 6p12.</p>
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<p>Localized or generalized intermediate epidermolysis bullosa simplex-3 with BP230 deficiency (EBS3) is a mild autosomal recessive dermatologic disorder characterized by trauma-induced blistering mainly occurring on the feet and ankles. Ultrastructural analysis of skin biopsy shows abnormal hemidesmosomes with poorly formed inner plaques (summary by Liu et al., 2012). </p><p>For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (131760).</p>
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<p>Groves et al. (2010) reported a 38-year-old Kuwaiti man, born of consanguineous parents, with epidermolysis bullosa simplex. He had a lifelong history of trauma-induced spontaneous blisters and erosions particularly affecting his ankles and feet, although the face, trunk, and more proximal limbs were also affected. Blisters and erosions healed without delay, scarring, or milia formation. He also had nail dystrophy and moderate dental caries, but hair was normal and there was no history of mucosal blistering. Electron microscopic analysis of a skin biopsy showed discrete abnormalities of hemidesmosomes, with poorly formed inner plaques leading to a lucent zone between keratin filaments and outer hemidesmosomal plaques, which showed no gross abnormalities. Immunofluorescence staining showed absence of BPAG1-e at the dermal-epidermal junction and in keratinocytes. There was also decreased immunoreactivity for beta-4-integrin (ITGB4; 147557), PLEC1 (601282), and COL17A1 (113811). The patient's 4 sibs, parents, and 2 children had no skin abnormalities. In addition to skin blistering, the patient had CADASIL (125310) resulting from a heterozygous mutation in the NOTCH3 gene (600276). </p><p>Liu et al. (2012) reported a 34-year-old Iranian woman with a lifelong skin blistering disorder that was worse during the summer and after trauma, such as at sites of friction from clothing. Blistering occurred mainly on the ankles, feet, dorsal aspects of the hands, and elbows. She had no hair, nail, mucosal, or genital involvement. Subtle atrophic scarring was present on the shins, ankles, elbows, dorsal aspects of the hands, and lower back. Electron microscopy of skin biopsy showed abnormal hemidesmosomes with poorly formed inner plaques and a lucent zone between keratin filament sand outer hemidesmosomal plaques. The keratin filaments extended to where the inner plaques should be, but did not associate with any attachment structures. Immunostaining for BPAG1-e showed complete absence of the protein in the patient's skin sample. Her father and 2 of her 3 children also had mild blistering, but skin biopsies and DNA were not available from those individuals. None of the individuals had neurologic abnormalities. </p><p>Ganani et al. (2021) described 5 patients from 3 families with localized EBS and mutation in the DST gene. Family A was a consanguineous Israeli family of Iraqi origin in which 2 sisters, 48 and 49 years of age, had childhood onset of blisters, primarily of the feet and hands as well as other areas of mechanical pressure. Other features included postinflammatory hypopigmentation, delayed wound healing, calluses, and asymptomatic plantar keratoderma, and 1 of the sisters had nail dystrophy. On examination, both had clear fluid-filled bullae, on the dorsum of a foot and on a finger. Skin biopsy from the edge of a blister revealed subepidermal separation with positive collage IV (see 120130) staining at the base of the blister. Their father and paternal grandmother also reported recurrent blisters. In family B, 4 Israeli sibs of Indian descent had EBS, of which 2 were available for study. One was a 58-year-old woman who had blisters mainly of the lower extremities following friction or mechanical pressure from age 10 years. She also reported nail dystrophy, pressure-induced calluses, and postinflammatory hypopigmentation. Her 70-year-old brother first noted acral blisters involving the soles around age 20 years; examination showed fluid-filled bullae at the right medial ankle and dorsal aspect of the feet. In family C, also Israeli of Indian origin, the proband was an 8-year-old boy who developed blistering over the lower legs and feet at 3 years of age. Examination showed remnants of blisters on the dorsum of the right foot with residual postinflammatory hypopigmentation. The authors noted that the findings in these patients showed phenotypic variability, including atypically large bullae on the dorsal aspect of the feet, as well as variable ages at presentation, even within the same family. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of EBSB2 in the family reported by Groves et al. (2010) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In a Kuwaiti man with epidermolysis bullosa simplex, Groves et al. (2010) identified a homozygous truncating mutation in the DST gene (Q1124X; 113810.0002). </p><p>In a 34-year-old Iranian woman from a consanguineous family with epidermolysis bullosa simplex, Liu et al. (2012) identified a homozygous truncating mutation in the DST gene (R1249X; 113810.0003). </p><p>By whole-exome and direct sequencing, Ganani et al. (2021) identified biallelic mutations in the DST gene in affected members of 3 Israeli families with localized EBS: in family A, 2 sisters of Iraqi descent were homozygous for the previously reported Q1124X mutation (113810.0002); in family C, an 8-year-old boy of Indian origin was homozygous for a 1-bp duplication (113810.0006); and in family B, a brother and sister of Indian origin were compound heterozygous for the same 1-bp duplication and a 1-bp deletion (113810.0007). Haplotype analysis did not support the existence of a founder mutation in the 2 families of Indian origin. Familial segregation was not reported. </p>
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<strong>REFERENCES</strong>
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Ganani, D., Malovitski, K., Sarig, O., Gat, A., Sprecher, E., Samuelov, L.
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<strong>Epidermolysis bullosa simplex due to bi-allelic DST mutations: case series and review of the literature.</strong>
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Pediat. Derm. 38: 436-441, 2021.
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[PubMed: 33471381]
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[Full Text: https://doi.org/10.1111/pde.14477]
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<li>
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Groves, R. W., Liu, L., Dopping-Hepenstal, P. J., Markus, H. S., Lovell, P. A., Ozoemena, L., Lai-Cheong, J. E., Gawler, J., Owaribe, K., Hashimoto, T., Mellerio, J. E., Mee, J. B., McGrath, J. A.
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<strong>A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.</strong>
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J. Invest. Derm. 130: 1551-1557, 2010.
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[PubMed: 20164846]
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[Full Text: https://doi.org/10.1038/jid.2010.19]
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Liu, L., Dopping-Hepenstal, P. J., Lovell, P. A., Michael, M., Horn, H., Fong, K., Lai-Cheong, J. E., Mellerio, J. E., Parsons, M., McGrath, J. A.
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<strong>Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression. (Letter)</strong>
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J. Invest. Derm. 132: 742-744, 2012.
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[PubMed: 22113475]
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[Full Text: https://doi.org/10.1038/jid.2011.379]
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 02/03/2022
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Cassandra L. Kniffin : 9/23/2013
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