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<title>
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Entry
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- #619161 - CARPAL TUNNEL SYNDROME 2; CTS2
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- OMIM
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<span class="h4">#619161</span>
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<br />
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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="/phenotypicSeries/PS115430"> <strong>Phenotypic Series</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="#mapping">Mapping</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="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(CARPAL TUNNEL SYNDROME) OR (COMP)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=619161[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 style="display: table-cell;">Animal Models</div>
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</span>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0070467" 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/619161" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>DO:</strong> 0070467<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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619161
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
|
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<span class="mim-font">
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CARPAL TUNNEL SYNDROME 2; CTS2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<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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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/19/473?start=-3&limit=10&highlight=473">
|
|
19p13.11
|
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</a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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Carpal tunnel syndrome 2
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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/619161"> 619161 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
COMP
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600310"> 600310 </a>
|
|
</span>
|
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</td>
|
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</tr>
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</tbody>
|
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</table>
|
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</div>
|
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</div>
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<div>
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/619161" 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>
|
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
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|
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<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS115430" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<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')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
|
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/619161" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/619161" 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>
|
|
<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 />
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|
|
|
</span>
|
|
</div>
|
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|
|
</div>
|
|
|
|
</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Reduced mobility of wrists <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5436924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5436924</a>]</span><br /> -
|
|
Reduced mobility of ankles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5436925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5436925</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Reduced mobility of thumbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5436926&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5436926</a>]</span><br /> -
|
|
Reduced mobility of fifth digits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5436927&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5436927</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Atrophic ulcers on fingers (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5436928&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5436928</a>]</span><br /> -
|
|
Digital necrosis (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0919725&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0919725</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Thenar atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864715&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864715</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003393" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003393</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003393" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003393</a>]</span><br /> -
|
|
Soft connective tissue swelling/thickening in carpal tunnel <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5436920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5436920</a>]</span><br /> -
|
|
Marked enlargement of transverse carpal ligaments <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5436998&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5436998</a>]</span><br /> -
|
|
Marked enlargement of flexor tendons <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5436921&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5436921</a>]</span><br /> -
|
|
Enlarged flexor pollicis longus tendon <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5436922&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5436922</a>]</span><br /> -
|
|
Enlarged Achilles tendon <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5436923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5436923</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Median nerve compression in carpal tunnel <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246611002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246611002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551829</a>]</span><br /> -
|
|
Pain in thumb, index, and middle fingers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5435504&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5435504</a>]</span><br /> -
|
|
Paresthesias in thumb, index, and middle fingers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5435505&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5435505</a>]</span><br /> -
|
|
Numbness in thumb, index, and middle fingers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5435506&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5435506</a>]</span><br /> -
|
|
Positive Tinel sign <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/281632005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">281632005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241409&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241409</a>]</span><br /> -
|
|
Positive Phalen sign <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5436917&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5436917</a>]</span><br /> -
|
|
Reduced 2-point discrimination <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5436918&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5436918</a>]</span><br /> -
|
|
Increased latency on electrophysiologic testing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5436919&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5436919</a>]</span><br /> -
|
|
Reduced nerve conduction velocity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857640&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857640</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000762</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Age of onset between 20 and 30 years<br /> -
|
|
Symptoms exacerbated at night or by overuse or exercise<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 cartilage oligomeric matrix protein gene (COMP, <a href="/entry/600310#0017">600310.0017</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>
|
|
Carpal tunnel syndrome
|
|
- <a href="/phenotypicSeries/PS115430">PS115430</a>
|
|
- 2 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
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<p>A number sign (#) is used with this entry because of evidence that carpal tunnel syndrome-2 (CTS2) is caused by heterozygous mutation in the COMP gene (<a href="/entry/600310">600310</a>) on chromosome 19p13.</p>
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<p>Carpal tunnel syndrome-2 (CTS2) is characterized by the relatively early onset of symptoms of median nerve compression in the wrist. Patients experience pain and numbness in the thumb, index, and middle fingers, correlating with the median nerve distribution in the hand. In addition to thickening of the tendons and ligaments of the wrist, thickening of other tendons has been observed (<a href="#1" class="mim-tip-reference" title="Li, C., Wang, N., Schaffer, A. A., Liu, X., Zhao, Z., Elliott, G., Garrett, L., Choi, N. T., Wang, Y., Wang, Y., Wang, C., Wang, J., Chan, D., Su, P., Cui, S., Yang, Y., Gao, B. <strong>Mutations in COMP cause familial carpal tunnel syndrome.</strong> Nature Commun. 11: 3642, 2020. Note: Electronic Article. Erratum: Nature Commun. 11: 3931, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32686688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32686688</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32686688[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/10.1038/s41467-020-17378-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32686688">Li et al., 2020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32686688" 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 general phenotypic description and discussion of genetic heterogeneity of carpal tunnel syndrome, see CTS1 (<a href="/entry/115430">115430</a>).</p>
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<p><a href="#1" class="mim-tip-reference" title="Li, C., Wang, N., Schaffer, A. A., Liu, X., Zhao, Z., Elliott, G., Garrett, L., Choi, N. T., Wang, Y., Wang, Y., Wang, C., Wang, J., Chan, D., Su, P., Cui, S., Yang, Y., Gao, B. <strong>Mutations in COMP cause familial carpal tunnel syndrome.</strong> Nature Commun. 11: 3642, 2020. Note: Electronic Article. Erratum: Nature Commun. 11: 3931, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32686688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32686688</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32686688[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/10.1038/s41467-020-17378-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32686688">Li et al. (2020)</a> reported 2 large families segregating autosomal dominant carpal tunnel syndrome (CTS). In family 1, they studied 17 affected individuals, who experienced onset of CTS symptoms between 20 and 30 years of age. Median nerve entrapment caused pain, paresthesias, and numbness in the thumb, index, and middle fingers; symptoms were exacerbated by overuse and exercise and were more severe at night. CTS was confirmed by the Tinel and Phalen signs and 2-point discrimination testing, as well as by electrophysiologic evaluation showing increased distal motor latency and reduced nerve conduction velocity. Thenar atrophy, digital trophic ulcers, and digital necrosis were observed in some patients. MRI showed swelling of carpal tunnel flexor tendons and smaller median nerves, and transverse carpal ligaments (TCLs) were significantly thickened. At surgery, soft connective tissue swelling and thickening in the carpal tunnels was observed, which the authors noted was similar to but more severe than that found in sporadic CTS patients. Severe enlargement of TCLs and flexor tendons, further compressing the median nerve, was confirmed. Histologic analysis of TCL tissue showed collagen fragmentation, edema, neovascular structures, and lipomatosis, as well as an increased number of myofibroblasts and thickening of vascular walls. Transmission electron microscopy (TEM) showed ectopic small fibrils and contrast differences in the extracellular matrix (ECM) of patient TCLs. Immuno-TEM revealed that the ectopic fibrils contained components of ECM, such as type I collagen (see <a href="/entry/120150">120150</a>), type III collagen (see <a href="/entry/120180">120180</a>), and COMP. The authors noted that flexor pollicis longus tendons and Achilles tendons of family 1 patients also tended to be bigger than those of controls, suggesting a systemic change in patients' tendons and ligaments. In addition, the affected individuals exhibited significantly reduced mobility of the wrists, ankles, thumbs, and fifth fingers compared to controls; however, no joint or growth plate defects were observed. In family 2, there were 11 living CTS patients, whose symptoms were less severe than those of family 1 and had a later age of onset, between 30 to 50 years. MRI findings were similar to those of family 1. Family 2 patients also experienced joint pain, and orthopedic examination suggested a diagnosis of multiple epiphyseal dysplasia (see EDM1, <a href="/entry/132400">132400</a>), which is characterized by epiphyseal deformity with joint pain and stiffness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32686688" 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 carpal tunnel syndrome in the families reported by <a href="#1" class="mim-tip-reference" title="Li, C., Wang, N., Schaffer, A. A., Liu, X., Zhao, Z., Elliott, G., Garrett, L., Choi, N. T., Wang, Y., Wang, Y., Wang, C., Wang, J., Chan, D., Su, P., Cui, S., Yang, Y., Gao, B. <strong>Mutations in COMP cause familial carpal tunnel syndrome.</strong> Nature Commun. 11: 3642, 2020. Note: Electronic Article. Erratum: Nature Commun. 11: 3931, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32686688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32686688</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32686688[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/10.1038/s41467-020-17378-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32686688">Li et al. (2020)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32686688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a large 5-generation family (family 1) with carpal tunnel syndrome, <a href="#1" class="mim-tip-reference" title="Li, C., Wang, N., Schaffer, A. A., Liu, X., Zhao, Z., Elliott, G., Garrett, L., Choi, N. T., Wang, Y., Wang, Y., Wang, C., Wang, J., Chan, D., Su, P., Cui, S., Yang, Y., Gao, B. <strong>Mutations in COMP cause familial carpal tunnel syndrome.</strong> Nature Commun. 11: 3642, 2020. Note: Electronic Article. Erratum: Nature Commun. 11: 3931, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32686688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32686688</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32686688[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/10.1038/s41467-020-17378-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32686688">Li et al. (2020)</a> performed linkage analysis and obtained a maximum multipoint lod score greater than 6 for a locus at chromosome 19p13.11-p12. Microsatellite analysis and haplotype reconstruction confirmed segregation of a specific haplotype in affected individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32686688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a large 5-generation family (family 1) with carpal tunnel syndrome mapping to chromosome 19p12, <a href="#1" class="mim-tip-reference" title="Li, C., Wang, N., Schaffer, A. A., Liu, X., Zhao, Z., Elliott, G., Garrett, L., Choi, N. T., Wang, Y., Wang, Y., Wang, C., Wang, J., Chan, D., Su, P., Cui, S., Yang, Y., Gao, B. <strong>Mutations in COMP cause familial carpal tunnel syndrome.</strong> Nature Commun. 11: 3642, 2020. Note: Electronic Article. Erratum: Nature Commun. 11: 3931, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32686688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32686688</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32686688[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/10.1038/s41467-020-17378-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32686688">Li et al. (2020)</a> sequenced the targeted locus and identified a heterozygous missense mutation in the COMP gene (V66E; <a href="/entry/600310#0019">600310.0019</a>) that segregated with disease. In a second family (family 2), in which affected individuals exhibited both CTS and EDM, whole-exome sequencing revealed heterozygosity for the R718W substitution in COMP (<a href="/entry/600310#0017">600310.0017</a>), a known recurrent mutation associated with EDM1 (<a href="/entry/132400">132400</a>). Functional analysis revealed that secretion of the R718W mutant was reduced in both primary tendon cells and chondrocytes, whereas secretion of V66E was reduced only in tendon cells; the authors noted that this might account for the different phenotypes in the 2 families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32686688" 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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Li, C., Wang, N., Schaffer, A. A., Liu, X., Zhao, Z., Elliott, G., Garrett, L., Choi, N. T., Wang, Y., Wang, Y., Wang, C., Wang, J., Chan, D., Su, P., Cui, S., Yang, Y., Gao, B.
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Nature Commun. 11: 3642, 2020. Note: Electronic Article. Erratum: Nature Commun. 11: 3931, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32686688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32686688</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32686688[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=32686688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Marla J. F. O'Neill : 01/19/2021
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carol : 10/28/2022
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alopez : 01/19/2021
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<strong>#</strong> 619161
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CARPAL TUNNEL SYNDROME 2; CTS2
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<strong>DO:</strong> 0070467;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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19p13.11
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Carpal tunnel syndrome 2
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619161
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Autosomal dominant
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3
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COMP
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600310
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<p>A number sign (#) is used with this entry because of evidence that carpal tunnel syndrome-2 (CTS2) is caused by heterozygous mutation in the COMP gene (600310) on chromosome 19p13.</p>
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<p>Carpal tunnel syndrome-2 (CTS2) is characterized by the relatively early onset of symptoms of median nerve compression in the wrist. Patients experience pain and numbness in the thumb, index, and middle fingers, correlating with the median nerve distribution in the hand. In addition to thickening of the tendons and ligaments of the wrist, thickening of other tendons has been observed (Li et al., 2020). </p><p>For a general phenotypic description and discussion of genetic heterogeneity of carpal tunnel syndrome, see CTS1 (115430).</p>
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<p>Li et al. (2020) reported 2 large families segregating autosomal dominant carpal tunnel syndrome (CTS). In family 1, they studied 17 affected individuals, who experienced onset of CTS symptoms between 20 and 30 years of age. Median nerve entrapment caused pain, paresthesias, and numbness in the thumb, index, and middle fingers; symptoms were exacerbated by overuse and exercise and were more severe at night. CTS was confirmed by the Tinel and Phalen signs and 2-point discrimination testing, as well as by electrophysiologic evaluation showing increased distal motor latency and reduced nerve conduction velocity. Thenar atrophy, digital trophic ulcers, and digital necrosis were observed in some patients. MRI showed swelling of carpal tunnel flexor tendons and smaller median nerves, and transverse carpal ligaments (TCLs) were significantly thickened. At surgery, soft connective tissue swelling and thickening in the carpal tunnels was observed, which the authors noted was similar to but more severe than that found in sporadic CTS patients. Severe enlargement of TCLs and flexor tendons, further compressing the median nerve, was confirmed. Histologic analysis of TCL tissue showed collagen fragmentation, edema, neovascular structures, and lipomatosis, as well as an increased number of myofibroblasts and thickening of vascular walls. Transmission electron microscopy (TEM) showed ectopic small fibrils and contrast differences in the extracellular matrix (ECM) of patient TCLs. Immuno-TEM revealed that the ectopic fibrils contained components of ECM, such as type I collagen (see 120150), type III collagen (see 120180), and COMP. The authors noted that flexor pollicis longus tendons and Achilles tendons of family 1 patients also tended to be bigger than those of controls, suggesting a systemic change in patients' tendons and ligaments. In addition, the affected individuals exhibited significantly reduced mobility of the wrists, ankles, thumbs, and fifth fingers compared to controls; however, no joint or growth plate defects were observed. In family 2, there were 11 living CTS patients, whose symptoms were less severe than those of family 1 and had a later age of onset, between 30 to 50 years. MRI findings were similar to those of family 1. Family 2 patients also experienced joint pain, and orthopedic examination suggested a diagnosis of multiple epiphyseal dysplasia (see EDM1, 132400), which is characterized by epiphyseal deformity with joint pain and stiffness. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of carpal tunnel syndrome in the families reported by Li et al. (2020) was consistent with autosomal dominant inheritance. </p>
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>In a large 5-generation family (family 1) with carpal tunnel syndrome, Li et al. (2020) performed linkage analysis and obtained a maximum multipoint lod score greater than 6 for a locus at chromosome 19p13.11-p12. Microsatellite analysis and haplotype reconstruction confirmed segregation of a specific haplotype in affected individuals. </p>
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<strong>Molecular Genetics</strong>
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<p>In a large 5-generation family (family 1) with carpal tunnel syndrome mapping to chromosome 19p12, Li et al. (2020) sequenced the targeted locus and identified a heterozygous missense mutation in the COMP gene (V66E; 600310.0019) that segregated with disease. In a second family (family 2), in which affected individuals exhibited both CTS and EDM, whole-exome sequencing revealed heterozygosity for the R718W substitution in COMP (600310.0017), a known recurrent mutation associated with EDM1 (132400). Functional analysis revealed that secretion of the R718W mutant was reduced in both primary tendon cells and chondrocytes, whereas secretion of V66E was reduced only in tendon cells; the authors noted that this might account for the different phenotypes in the 2 families. </p>
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<strong>REFERENCES</strong>
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Li, C., Wang, N., Schaffer, A. A., Liu, X., Zhao, Z., Elliott, G., Garrett, L., Choi, N. T., Wang, Y., Wang, Y., Wang, C., Wang, J., Chan, D., Su, P., Cui, S., Yang, Y., Gao, B.
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<strong>Mutations in COMP cause familial carpal tunnel syndrome.</strong>
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Nature Commun. 11: 3642, 2020. Note: Electronic Article. Erratum: Nature Commun. 11: 3931, 2020.
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[PubMed: 32686688]
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[Full Text: https://doi.org/10.1038/s41467-020-17378-z]
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Marla J. F. O'Neill : 01/19/2021
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<span class="mim-text-font">
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carol : 10/28/2022<br>alopez : 01/19/2021
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