2189 lines
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Entry
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- #606835 - DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL; FDAB
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- OMIM
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<p>
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<span class="h4">#606835</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/606835"><strong>Clinical Synopsis</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="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL" 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=11636&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/NBK201366/" 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=606835[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=85169" 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><a href="https://www.possumcore.com/nuxeo/nxdoc/default/68c4c0b5-7a1f-47b1-87bf-5baf8c8f35f4/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://omia.org/OMIA000319/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<span>
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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> 85169<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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606835
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</span>
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</span>
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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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DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL; FDAB
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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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<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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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/12/793?start=-3&limit=10&highlight=793">
|
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12q24.11
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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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Digital arthropathy-brachydactyly, familial
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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/606835"> 606835 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
|
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TRPV4
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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/605427"> 605427 </a>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/606835" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="sr-only">Toggle Dropdown</span>
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/606835" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/606835" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p />
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</div>
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<strong> INHERITANCE </strong>
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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<strong> SKELETAL </strong>
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- Normal bone age <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/123981005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">123981005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1276343&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1276343</a>]</span><br />
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<em> Hands </em>
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<span class="mim-font">
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- Radially deviated phalanges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836189&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836189</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009466" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009466</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009466" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009466</a>]</span><br /> -
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Progressive brachydactyly of middle and distal phalanges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847408&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847408</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005872" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005872</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005872" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005872</a>]</span><br /> -
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Progressive arthropathy of the interphalangeal and metacarpophalangeal joints <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847409&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847409</a>]</span><br />
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</span>
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<div>
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<span class="h5 mim-font">
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<em> Feet </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Progressive brachydactyly of middle and distal phalanges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847408&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847408</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005872" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005872</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005872" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005872</a>]</span><br /> -
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Progressive arthropathy of the interphalangeal and metatarsophalangeal joints <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847410&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847410</a>]</span><br />
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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<div style="margin-left: 2em;">
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- Onset in first decade of life<br /> -
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Changes more marked in hands than feet<br />
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</span>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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<div style="margin-left: 2em;">
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- Caused by mutation in the transient receptor potential cation channel, subfamily V, member 4 gene (TRPV4, <a href="/entry/605427#0030">605427.0030</a>)<br />
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</span>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<br />
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that familial digital arthropathy-brachydactyly (FDAB) is caused by heterozygous mutation in the TRPV4 gene (<a href="/entry/605427">605427</a>) on chromosome 12q24.</p>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Description</strong>
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<p>Individuals with familial digital arthropathy-brachydactyly (FDAB) appear normal at birth, with no clinical or radiographic evidence of a developmental skeletal dysplasia. The earliest changes appear during the first decade of life and involve irregularities in the proximal articular surfaces of the distal interphalangeal joints of the hand. By adulthood, all interphalangeal, metacarpophalangeal, and metatarsophalangeal joints are affected by a deforming, painful osteoarthritis. The remainder of the skeleton is clinically and radiographically unaffected, thus distinguishing this disorder from other TRPV4 skeletal dysplasias, the cardinal features of which include abnormalities of the spine and disproportionate short stature (<a href="#2" class="mim-tip-reference" title="Lamande, S. R., Yuan, Y., Gresshoff, I. L., Rowley, L., Belluoccio, D., Kaluarachchi, K., Little, C. B., Botzenhart, E., Zerres, K., Amor, D. J., Cole, W. G., Savarirayan, R., McIntyre, P., Bateman, J. F. <strong>Mutations in TRPV4 cause an inherited arthropathy of hands and feet.</strong> Nature Genet. 43: 1142-1146, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21964574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21964574</a>] [<a href="https://doi.org/10.1038/ng.945" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21964574">Lamande et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21964574" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p><a href="#1" class="mim-tip-reference" title="Amor, D. J., Tudball, C., Gardner, R. J. M., Lamande, S. R., Bateman, J. F., Savarirayan, R. <strong>Familial digital arthropathy-brachydactyly.</strong> Am. J. Med. Genet. 108: 235-240, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11891693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11891693</a>] [<a href="https://doi.org/10.1002/ajmg.10269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11891693">Amor et al. (2002)</a> described a large, 5-generation pedigree in which many members had a dominantly inherited condition, which the authors designated familial digital arthropathy-brachydactyly, comprising progressive brachydactyly of the middle and distal phalanges of the hands and feet, with onset in the first decade of life. An associated deforming, progressive arthropathy of the interphalangeal, metacarpophalangeal, and metatarsophalangeal joints was seen. Early changes involved the proximal articular surfaces which became flattened and deformed while the distal articular surfaces and the joint spaces remained intact. Changes were usually more marked in the hands than the feet, with no other part of the skeleton showing involvement. Affected individuals were otherwise healthy. <a href="#1" class="mim-tip-reference" title="Amor, D. J., Tudball, C., Gardner, R. J. M., Lamande, S. R., Bateman, J. F., Savarirayan, R. <strong>Familial digital arthropathy-brachydactyly.</strong> Am. J. Med. Genet. 108: 235-240, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11891693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11891693</a>] [<a href="https://doi.org/10.1002/ajmg.10269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11891693">Amor et al. (2002)</a> hypothesized from the radiologic appearance of patients at different ages that FDAB may result from subchondral pathology primarily affecting the heads of the phalanges, metacarpals, and metatarsals, with the arthropathy and brachydactyly being secondary effects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11891693" 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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<br />
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<a id="mapping" class="mim-anchor"></a>
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<strong>Mapping</strong>
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<p>In the family with digital arthropathy-brachydactyly originally described by <a href="#1" class="mim-tip-reference" title="Amor, D. J., Tudball, C., Gardner, R. J. M., Lamande, S. R., Bateman, J. F., Savarirayan, R. <strong>Familial digital arthropathy-brachydactyly.</strong> Am. J. Med. Genet. 108: 235-240, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11891693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11891693</a>] [<a href="https://doi.org/10.1002/ajmg.10269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11891693">Amor et al. (2002)</a> and another affected family, <a href="#2" class="mim-tip-reference" title="Lamande, S. R., Yuan, Y., Gresshoff, I. L., Rowley, L., Belluoccio, D., Kaluarachchi, K., Little, C. B., Botzenhart, E., Zerres, K., Amor, D. J., Cole, W. G., Savarirayan, R., McIntyre, P., Bateman, J. F. <strong>Mutations in TRPV4 cause an inherited arthropathy of hands and feet.</strong> Nature Genet. 43: 1142-1146, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21964574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21964574</a>] [<a href="https://doi.org/10.1038/ng.945" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21964574">Lamande et al. (2011)</a> performed a genomewide microsatellite linkage scan and found linkage to an overlapping region on chromosome 12q23-q24. Analysis of additional markers narrowed the critical region to a 10-Mb interval flanked by markers D12S1597 and D12S79, with a combined maximum lod score of 6.9 (theta = 0). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21964574+11891693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of FDAB in the pedigree described by <a href="#1" class="mim-tip-reference" title="Amor, D. J., Tudball, C., Gardner, R. J. M., Lamande, S. R., Bateman, J. F., Savarirayan, R. <strong>Familial digital arthropathy-brachydactyly.</strong> Am. J. Med. Genet. 108: 235-240, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11891693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11891693</a>] [<a href="https://doi.org/10.1002/ajmg.10269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11891693">Amor et al. (2002)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11891693" 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 2 families with digital arthropathy-brachydactyly mapping to chromosome 12q24, 1 of which was the family originally described by <a href="#1" class="mim-tip-reference" title="Amor, D. J., Tudball, C., Gardner, R. J. M., Lamande, S. R., Bateman, J. F., Savarirayan, R. <strong>Familial digital arthropathy-brachydactyly.</strong> Am. J. Med. Genet. 108: 235-240, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11891693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11891693</a>] [<a href="https://doi.org/10.1002/ajmg.10269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11891693">Amor et al. (2002)</a>, <a href="#2" class="mim-tip-reference" title="Lamande, S. R., Yuan, Y., Gresshoff, I. L., Rowley, L., Belluoccio, D., Kaluarachchi, K., Little, C. B., Botzenhart, E., Zerres, K., Amor, D. J., Cole, W. G., Savarirayan, R., McIntyre, P., Bateman, J. F. <strong>Mutations in TRPV4 cause an inherited arthropathy of hands and feet.</strong> Nature Genet. 43: 1142-1146, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21964574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21964574</a>] [<a href="https://doi.org/10.1038/ng.945" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21964574">Lamande et al. (2011)</a> analyzed the candidate gene TRPV4 and identified 2 different heterozygous missense mutations that segregated with disease in each family (<a href="/entry/605427#0030">605427.0030</a> and <a href="/entry/605427#0031">605427.0031</a>). In a sporadic patient with FDAB, heterozygosity for a third missense mutation in TRPV4 was identified (<a href="/entry/605427#0032">605427.0032</a>). All 3 mutations were shown to reduce channel activity, in contrast to gain-of-function TRPV4 mutations that cause skeletal dysplasias and peripheral neuropathies. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21964574+11891693" 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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Amor, D. J., Tudball, C., Gardner, R. J. M., Lamande, S. R., Bateman, J. F., Savarirayan, R.
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<strong>Familial digital arthropathy-brachydactyly.</strong>
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Am. J. Med. Genet. 108: 235-240, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11891693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11891693</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11891693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.10269" target="_blank">Full Text</a>]
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Lamande, S. R., Yuan, Y., Gresshoff, I. L., Rowley, L., Belluoccio, D., Kaluarachchi, K., Little, C. B., Botzenhart, E., Zerres, K., Amor, D. J., Cole, W. G., Savarirayan, R., McIntyre, P., Bateman, J. F.
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<strong>Mutations in TRPV4 cause an inherited arthropathy of hands and feet.</strong>
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Nature Genet. 43: 1142-1146, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21964574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21964574</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21964574" 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/ng.945" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 7/17/2012
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Deborah L. Stone : 4/9/2002
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carol : 12/20/2023
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alopez : 04/14/2016<br>carol : 7/18/2012<br>terry : 7/17/2012<br>wwang : 5/23/2011<br>carol : 12/21/2010<br>tkritzer : 1/7/2004<br>carol : 4/9/2002
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<strong>#</strong> 606835
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DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL; FDAB
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<strong>ORPHA:</strong> 85169;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Inheritance
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Phenotype <br /> mapping key
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12q24.11
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Digital arthropathy-brachydactyly, familial
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606835
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Autosomal dominant
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<span class="mim-font">
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3
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TRPV4
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<span class="mim-font">
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605427
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<p>A number sign (#) is used with this entry because of evidence that familial digital arthropathy-brachydactyly (FDAB) is caused by heterozygous mutation in the TRPV4 gene (605427) on chromosome 12q24.</p>
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<strong>Description</strong>
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<p>Individuals with familial digital arthropathy-brachydactyly (FDAB) appear normal at birth, with no clinical or radiographic evidence of a developmental skeletal dysplasia. The earliest changes appear during the first decade of life and involve irregularities in the proximal articular surfaces of the distal interphalangeal joints of the hand. By adulthood, all interphalangeal, metacarpophalangeal, and metatarsophalangeal joints are affected by a deforming, painful osteoarthritis. The remainder of the skeleton is clinically and radiographically unaffected, thus distinguishing this disorder from other TRPV4 skeletal dysplasias, the cardinal features of which include abnormalities of the spine and disproportionate short stature (Lamande et al., 2011). </p>
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<p>Amor et al. (2002) described a large, 5-generation pedigree in which many members had a dominantly inherited condition, which the authors designated familial digital arthropathy-brachydactyly, comprising progressive brachydactyly of the middle and distal phalanges of the hands and feet, with onset in the first decade of life. An associated deforming, progressive arthropathy of the interphalangeal, metacarpophalangeal, and metatarsophalangeal joints was seen. Early changes involved the proximal articular surfaces which became flattened and deformed while the distal articular surfaces and the joint spaces remained intact. Changes were usually more marked in the hands than the feet, with no other part of the skeleton showing involvement. Affected individuals were otherwise healthy. Amor et al. (2002) hypothesized from the radiologic appearance of patients at different ages that FDAB may result from subchondral pathology primarily affecting the heads of the phalanges, metacarpals, and metatarsals, with the arthropathy and brachydactyly being secondary effects. </p>
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<strong>Mapping</strong>
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<p>In the family with digital arthropathy-brachydactyly originally described by Amor et al. (2002) and another affected family, Lamande et al. (2011) performed a genomewide microsatellite linkage scan and found linkage to an overlapping region on chromosome 12q23-q24. Analysis of additional markers narrowed the critical region to a 10-Mb interval flanked by markers D12S1597 and D12S79, with a combined maximum lod score of 6.9 (theta = 0). </p>
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<p>The transmission pattern of FDAB in the pedigree described by Amor et al. (2002) was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In 2 families with digital arthropathy-brachydactyly mapping to chromosome 12q24, 1 of which was the family originally described by Amor et al. (2002), Lamande et al. (2011) analyzed the candidate gene TRPV4 and identified 2 different heterozygous missense mutations that segregated with disease in each family (605427.0030 and 605427.0031). In a sporadic patient with FDAB, heterozygosity for a third missense mutation in TRPV4 was identified (605427.0032). All 3 mutations were shown to reduce channel activity, in contrast to gain-of-function TRPV4 mutations that cause skeletal dysplasias and peripheral neuropathies. </p>
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<strong>REFERENCES</strong>
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Amor, D. J., Tudball, C., Gardner, R. J. M., Lamande, S. R., Bateman, J. F., Savarirayan, R.
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<strong>Familial digital arthropathy-brachydactyly.</strong>
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Am. J. Med. Genet. 108: 235-240, 2002.
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[PubMed: 11891693]
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[Full Text: https://doi.org/10.1002/ajmg.10269]
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Lamande, S. R., Yuan, Y., Gresshoff, I. L., Rowley, L., Belluoccio, D., Kaluarachchi, K., Little, C. B., Botzenhart, E., Zerres, K., Amor, D. J., Cole, W. G., Savarirayan, R., McIntyre, P., Bateman, J. F.
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<strong>Mutations in TRPV4 cause an inherited arthropathy of hands and feet.</strong>
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Nature Genet. 43: 1142-1146, 2011.
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[PubMed: 21964574]
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[Full Text: https://doi.org/10.1038/ng.945]
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Marla J. F. O'Neill - updated : 7/17/2012
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Deborah L. Stone : 4/9/2002
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