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<title>
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Entry
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- #604864 - OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA; OSCDP
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- OMIM
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<span class="h4">#604864</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/604864"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></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="#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 id="mimFloatingLinksMenu">
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<div style="display: table-cell;">External Links</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=(OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA) OR (COL2A1)" 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.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12220&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/NBK540447/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9052" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=604864[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=93279" 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/fda979f1-e9c0-466a-ac3f-c3f9aaf3c862/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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<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>SNOMEDCT:</strong> 254064009<br />
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<strong>ORPHA:</strong> 93279<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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604864
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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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OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA; OSCDP
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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NAMAQUALAND HIP DYSPLASIA; NHD
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
|
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Gene/Locus
|
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</th>
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<th>
|
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Gene/Locus <br /> MIM number
|
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</th>
|
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</tr>
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</thead>
|
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<tbody>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/12/325?start=-3&limit=10&highlight=325">
|
|
12q13.11
|
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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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Osteoarthritis with mild chondrodysplasia
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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/604864"> 604864 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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COL2A1
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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/120140"> 120140 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/604864" 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="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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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/604864" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/604864" 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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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- 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>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> GROWTH </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Height </em>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
|
- Decreased height compared to unaffected siblings <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970082&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970082</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
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<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<span class="mim-font">
|
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|
|
- Osteoarthritis (hips, knees, shoulders, wrists, hands) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970083&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970083</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/225655006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">225655006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396275006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396275006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M15-M19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M15-M19</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M19.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M19.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M19.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M19.90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/715.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">715.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002758" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002758</a>]</span><br /> -
|
|
Joint stiffness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84445001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84445001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162298&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162298</a>, <a href="https://bioportal.bioontology.org/search?q=C4085642&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4085642</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001387" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001387</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001387" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001387</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Irregular endplates <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842153&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842153</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003301" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003301</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003301" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003301</a>]</span><br /> -
|
|
Mild platyspondyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848999&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848999</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005752" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005752</a>]</span><br /> -
|
|
Schmorl's nodes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45181002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45181002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M51.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M51.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/722.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">722.30</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/722.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">722.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0410632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0410632</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030041" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030041</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030041" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030041</a>]</span><br /> -
|
|
Anterior wedging <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/19888007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">19888007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M48.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M48.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856599&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856599</a>, <a href="https://bioportal.bioontology.org/search?q=C0264112&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264112</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008422" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008422</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004568</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008422" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008422</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Enlarged MCP joints <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970085&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970085</a>]</span><br /> -
|
|
Enlarged PIP and DIP joints <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970086&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970086</a>]</span><br /> -
|
|
Heberden's nodes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/371598009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">371598009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018862&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018862</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012313" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012313</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
|
</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
|
<div>
|
|
<span class="mim-font">
|
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|
|
- Onset of osteoarthritis in teens to early adulthood<br />
|
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|
|
</span>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, <a href="/entry/120140#0003">120140.0003</a>)<br />
|
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|
|
</span>
|
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</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
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</div>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
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<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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</span>
|
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
|
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<p>A number sign (#) is used with this entry because of evidence that osteoarthritis with mild chondrodysplasia (OSCDP) is caused by heterozygous mutation in the COL2A1 gene (<a href="/entry/120140">120140</a>) on chromosome 12q13.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
|
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<p><a href="#4" class="mim-tip-reference" title="Knowlton, R. G., Katzenstein, P. L., Moskowitz, R. W., Weaver, E. J., Malemud, C. J., Pathria, M. N., Jimenez, S. A., Prockop, D. J. <strong>Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia.</strong> New Eng. J. Med. 322: 526-530, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2300123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2300123</a>] [<a href="https://doi.org/10.1056/NEJM199002223220807" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2300123">Knowlton et al. (1990)</a> reported 10 members over 3 generations with primary osteoarthritis associated with mild chondrodysplasia. Onset of symptoms in the proband and 2 of his brothers began in the second or third decade of life and consisted of limited range of motion of the elbows. Over the next 20 years, the range of motion became limited in the metacarpophalangeal joints, proximal and distal interphalangeal joints, shoulders, hips, and knees. Physical examinations revealed bony enlargement of the metacarpophalangeal joints and the proximal and distal interphalangeal joints as well as limited range of motion of the joints. Their sister reported only intermittent discomfort in the lower back and limited range of motion of her hips. Their father, who had died at age 75 of pneumonia and heart failure, reportedly had a syndrome identical to his affected sons. No family member had signs of mental retardation, ocular disease, central nervous system disease, joint hypermobility, spontaneous fractures, or abnormalities of the internal organs. Radiographs of the father and 4 second-generation members revealed advanced degeneration of multiple peripheral weight-bearing and non-weight-bearing joints identical to the changes that occur in primary osteoarthritis. During a 3-year period, osteoarthritis of the hips was noted in the proband. Three of 4 affected members in the second generations had Heberden nodes. Two members of the third generation had early-onset osteoarthritis of the hips and metacarpal heads at the ages of 28 and 16 years. These 7 affected members and 3 other third-generation members (mean age, 16 years) had abnormalities of the vertebral bodies consistent with mild chondrodysplasia, including flattening of the vertebral bodies, irregular end plates, herniations within the vertebral bodies (Schmorl nodes), and anterior wedging. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2300123" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Beighton, P., Christy, G., Learmonth, I. D. <strong>Namaqualand hip dysplasia: an autosomal dominant entity.</strong> Am. J. Med. Genet. 19: 161-169, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6496567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6496567</a>] [<a href="https://doi.org/10.1002/ajmg.1320190116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6496567">Beighton et al. (1984)</a> described a skeletal disorder in 45 persons in 5 generations of a kindred of mixed ancestry in Namaqualand, South Africa. Discomfort in the hips developed in childhood and the course was progressive, with handicap in middle age. General health was good, height was not significantly reduced, and no extraskeletal involvement was identified. The major changes occurred in the femoral capital epiphyses, which were flattened and fragmented; secondary degenerative arthropathy developed at a later stage. Platyspondyly of variable but mild degree was present in about 60% of affected persons. Other minor changes, including iliac exostoses, were present in some. The pedigree findings indicate autosomal dominant inheritance. <a href="#2" class="mim-tip-reference" title="Beighton, P., Christy, G., Learmonth, I. D. <strong>Namaqualand hip dysplasia: an autosomal dominant entity.</strong> Am. J. Med. Genet. 19: 161-169, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6496567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6496567</a>] [<a href="https://doi.org/10.1002/ajmg.1320190116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6496567">Beighton et al. (1984)</a> designated the disorder 'Namaqualand hip dysplasia.' <a href="#5" class="mim-tip-reference" title="Learmonth, I. D., Christy, G., Beighton, P. <strong>Namaqualand hip dysplasia: orthopaedic implications.</strong> Clin. Orthop. 218: 142-147, 1987."None>Learmonth et al. (1987)</a> pointed out that the maximal changes in the femoral capital epiphyses lead to severe progressive degenerative osteoarthropathy of the hip joint that frequently necessitates prosthetic joint replacement in adulthood. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6496567" 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 osteoarthritis with mild chondrodysplasia in the family reported by <a href="#4" class="mim-tip-reference" title="Knowlton, R. G., Katzenstein, P. L., Moskowitz, R. W., Weaver, E. J., Malemud, C. J., Pathria, M. N., Jimenez, S. A., Prockop, D. J. <strong>Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia.</strong> New Eng. J. Med. 322: 526-530, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2300123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2300123</a>] [<a href="https://doi.org/10.1056/NEJM199002223220807" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2300123">Knowlton et al. (1990)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2300123" 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 Finland, early-onset osteoarthrosis is relatively frequent and seems to run in certain families in an autosomal dominant pedigree pattern. In a large Finnish family in which members in at least 5 generations had early-onset osteoarthrosis, <a href="#8" class="mim-tip-reference" title="Vaisanen, P., Palotie, A., Ott, J., Peltonen, L. <strong>RFLP studies of type II collagen gene for finding the possible linkage between the gene and osteoarthrosis (OA). (Abstract)</strong> Cytogenet. Cell Genet. 46: 707 only, 1987."None>Vaisanen et al. (1987)</a> found linkage with 2 RFLPs of the type II collagen locus on chromosome 12. The lod score was 1.7 with 1 marker and 1.4 with a second, both at theta = 0.0. <a href="#6" class="mim-tip-reference" title="Palotie, A., Vaisanen, P., Ott, J., Ryhanen, L., Vikkula, M., Cheah, K. S. E., Vuorio, E., Peltonen, L. <strong>Predisposition to familial osteoarthrosis is linked to type II collagen gene. (Abstract)</strong> Cytogenet. Cell Genet. 51: 1058 only, 1989."None>Palotie et al. (1989)</a> extended these observations, reporting a maximum lod score of 3.20 at theta = 0.0 in 2 families.</p><p>In a 3-generation family segregating autosomal dominant osteoarthritis with mild chondrodysplasia, <a href="#4" class="mim-tip-reference" title="Knowlton, R. G., Katzenstein, P. L., Moskowitz, R. W., Weaver, E. J., Malemud, C. J., Pathria, M. N., Jimenez, S. A., Prockop, D. J. <strong>Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia.</strong> New Eng. J. Med. 322: 526-530, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2300123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2300123</a>] [<a href="https://doi.org/10.1056/NEJM199002223220807" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2300123">Knowlton et al. (1990)</a> found linkage of the disorder to the COL2A1 locus with a maximal lod score of 2.39 in multipoint analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2300123" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By linkage analysis in the family with Namaqualand hip dysplasia reported by <a href="#2" class="mim-tip-reference" title="Beighton, P., Christy, G., Learmonth, I. D. <strong>Namaqualand hip dysplasia: an autosomal dominant entity.</strong> Am. J. Med. Genet. 19: 161-169, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6496567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6496567</a>] [<a href="https://doi.org/10.1002/ajmg.1320190116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6496567">Beighton et al. (1984)</a>, <a href="#7" class="mim-tip-reference" title="Sher, C., Ramesar, R., Martell, R., Learmonth, I., Tsipouras, P., Beighton, P. <strong>Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene (COL2A1).</strong> Am. J. Hum. Genet. 48: 518-524, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1671807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1671807</a>]" pmid="1671807">Sher et al. (1991)</a> found close linkage with the COL2A1 gene with no recombination (lod = 7.98). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6496567+1671807" 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 kindred described by <a href="#4" class="mim-tip-reference" title="Knowlton, R. G., Katzenstein, P. L., Moskowitz, R. W., Weaver, E. J., Malemud, C. J., Pathria, M. N., Jimenez, S. A., Prockop, D. J. <strong>Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia.</strong> New Eng. J. Med. 322: 526-530, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2300123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2300123</a>] [<a href="https://doi.org/10.1056/NEJM199002223220807" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2300123">Knowlton et al. (1990)</a> with dominantly inherited generalized osteoarthritis associated with a mild chondrodysplasia, <a href="#1" class="mim-tip-reference" title="Ala-Kokko, L., Baldwin, C. T., Moskowitz, R. W., Prockop, D. J. <strong>Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.</strong> Proc. Nat. Acad. Sci. 87: 6565-6568, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1975693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1975693</a>] [<a href="https://doi.org/10.1073/pnas.87.17.6565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1975693">Ala-Kokko et al. (1990)</a> identified an arg519-to-cys mutation of the type II collagen gene (R519C; <a href="/entry/120140#0003">120140.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2300123+1975693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Holderbaum, D., Malemud, C. J., Moskowitz, R. W., Haqqi, T. M. <strong>Human cartilage from late stage familial osteoarthritis transcribes type II collagen mRNA encoding a cysteine in position 519.</strong> Biochem. Biophys. Res. Commun. 192: 1169-1174, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8507190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8507190</a>] [<a href="https://doi.org/10.1006/bbrc.1993.1539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8507190">Holderbaum et al. (1993)</a> referred to 2 additional families with precocious-onset osteoarthritis and mild chondrodysplasia caused by the R519C mutation in the COL2A1 gene. They reported studies suggesting that the mutation arose independently in at least 2 of the 3 known affected families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8507190" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Williams, C. J., Rock, M., Considine, E., McCarron, S., Gow, P., Ladda, R., McLain, D., Michels, V. M., Murphy, W., Prockop, D. J., Ganguly, A. <strong>Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 arg519-to-cys base substitution using conformation sensitive gel electrophoresis.</strong> Hum. Molec. Genet. 4: 309-312, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7757086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7757086</a>] [<a href="https://doi.org/10.1093/hmg/4.2.309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7757086">Williams et al. (1995)</a> found the R519C mutation in a fourth family with early-onset osteoarthritis and late-onset spondyloepiphyseal dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7757086" 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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Ala-Kokko, L., Baldwin, C. T., Moskowitz, R. W., Prockop, D. J.
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<strong>Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.</strong>
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Proc. Nat. Acad. Sci. 87: 6565-6568, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1975693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1975693</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1975693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Am. J. Med. Genet. 19: 161-169, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6496567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6496567</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6496567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Human cartilage from late stage familial osteoarthritis transcribes type II collagen mRNA encoding a cysteine in position 519.</strong>
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Biochem. Biophys. Res. Commun. 192: 1169-1174, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8507190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8507190</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8507190" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Knowlton, R. G., Katzenstein, P. L., Moskowitz, R. W., Weaver, E. J., Malemud, C. J., Pathria, M. N., Jimenez, S. A., Prockop, D. J.
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<strong>Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia.</strong>
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New Eng. J. Med. 322: 526-530, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2300123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2300123</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2300123" 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/10.1056/NEJM199002223220807" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Learmonth1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Learmonth, I. D., Christy, G., Beighton, P.
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<strong>Namaqualand hip dysplasia: orthopaedic implications.</strong>
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Clin. Orthop. 218: 142-147, 1987.
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</p>
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<a id="6" class="mim-anchor"></a>
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<a id="Palotie1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Palotie, A., Vaisanen, P., Ott, J., Ryhanen, L., Vikkula, M., Cheah, K. S. E., Vuorio, E., Peltonen, L.
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<strong>Predisposition to familial osteoarthrosis is linked to type II collagen gene. (Abstract)</strong>
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Cytogenet. Cell Genet. 51: 1058 only, 1989.
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<a id="7" class="mim-anchor"></a>
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<a id="Sher1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sher, C., Ramesar, R., Martell, R., Learmonth, I., Tsipouras, P., Beighton, P.
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<strong>Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene (COL2A1).</strong>
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Am. J. Hum. Genet. 48: 518-524, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1671807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1671807</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1671807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Vaisanen1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vaisanen, P., Palotie, A., Ott, J., Peltonen, L.
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<strong>RFLP studies of type II collagen gene for finding the possible linkage between the gene and osteoarthrosis (OA). (Abstract)</strong>
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Cytogenet. Cell Genet. 46: 707 only, 1987.
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<a id="9" class="mim-anchor"></a>
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<a id="Williams1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Williams, C. J., Rock, M., Considine, E., McCarron, S., Gow, P., Ladda, R., McLain, D., Michels, V. M., Murphy, W., Prockop, D. J., Ganguly, A.
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<strong>Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 arg519-to-cys base substitution using conformation sensitive gel electrophoresis.</strong>
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Hum. Molec. Genet. 4: 309-312, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7757086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7757086</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7757086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/4.2.309" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini - updated : 9/29/2015
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 4/21/2000
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 06/24/2016
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carol : 10/2/2015<br>carol : 9/29/2015<br>alopez : 6/5/2013<br>carol : 4/24/2000<br>carol : 4/24/2000<br>carol : 4/21/2000<br>carol : 4/21/2000
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<span class="mim-font">
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<strong>#</strong> 604864
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<h3>
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OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA; OSCDP
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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NAMAQUALAND HIP DYSPLASIA; NHD
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<strong>SNOMEDCT:</strong> 254064009;
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<strong>ORPHA:</strong> 93279;
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<strong>Phenotype-Gene Relationships</strong>
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<div>
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<table class="table table-bordered table-condensed 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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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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12q13.11
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</span>
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<td>
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<span class="mim-font">
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Osteoarthritis with mild chondrodysplasia
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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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604864
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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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Autosomal dominant
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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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3
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<td>
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<span class="mim-font">
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COL2A1
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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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120140
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</table>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that osteoarthritis with mild chondrodysplasia (OSCDP) is caused by heterozygous mutation in the COL2A1 gene (120140) on chromosome 12q13.</p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Knowlton et al. (1990) reported 10 members over 3 generations with primary osteoarthritis associated with mild chondrodysplasia. Onset of symptoms in the proband and 2 of his brothers began in the second or third decade of life and consisted of limited range of motion of the elbows. Over the next 20 years, the range of motion became limited in the metacarpophalangeal joints, proximal and distal interphalangeal joints, shoulders, hips, and knees. Physical examinations revealed bony enlargement of the metacarpophalangeal joints and the proximal and distal interphalangeal joints as well as limited range of motion of the joints. Their sister reported only intermittent discomfort in the lower back and limited range of motion of her hips. Their father, who had died at age 75 of pneumonia and heart failure, reportedly had a syndrome identical to his affected sons. No family member had signs of mental retardation, ocular disease, central nervous system disease, joint hypermobility, spontaneous fractures, or abnormalities of the internal organs. Radiographs of the father and 4 second-generation members revealed advanced degeneration of multiple peripheral weight-bearing and non-weight-bearing joints identical to the changes that occur in primary osteoarthritis. During a 3-year period, osteoarthritis of the hips was noted in the proband. Three of 4 affected members in the second generations had Heberden nodes. Two members of the third generation had early-onset osteoarthritis of the hips and metacarpal heads at the ages of 28 and 16 years. These 7 affected members and 3 other third-generation members (mean age, 16 years) had abnormalities of the vertebral bodies consistent with mild chondrodysplasia, including flattening of the vertebral bodies, irregular end plates, herniations within the vertebral bodies (Schmorl nodes), and anterior wedging. </p><p>Beighton et al. (1984) described a skeletal disorder in 45 persons in 5 generations of a kindred of mixed ancestry in Namaqualand, South Africa. Discomfort in the hips developed in childhood and the course was progressive, with handicap in middle age. General health was good, height was not significantly reduced, and no extraskeletal involvement was identified. The major changes occurred in the femoral capital epiphyses, which were flattened and fragmented; secondary degenerative arthropathy developed at a later stage. Platyspondyly of variable but mild degree was present in about 60% of affected persons. Other minor changes, including iliac exostoses, were present in some. The pedigree findings indicate autosomal dominant inheritance. Beighton et al. (1984) designated the disorder 'Namaqualand hip dysplasia.' Learmonth et al. (1987) pointed out that the maximal changes in the femoral capital epiphyses lead to severe progressive degenerative osteoarthropathy of the hip joint that frequently necessitates prosthetic joint replacement in adulthood. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of osteoarthritis with mild chondrodysplasia in the family reported by Knowlton et al. (1990) was consistent with autosomal dominant inheritance. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In Finland, early-onset osteoarthrosis is relatively frequent and seems to run in certain families in an autosomal dominant pedigree pattern. In a large Finnish family in which members in at least 5 generations had early-onset osteoarthrosis, Vaisanen et al. (1987) found linkage with 2 RFLPs of the type II collagen locus on chromosome 12. The lod score was 1.7 with 1 marker and 1.4 with a second, both at theta = 0.0. Palotie et al. (1989) extended these observations, reporting a maximum lod score of 3.20 at theta = 0.0 in 2 families.</p><p>In a 3-generation family segregating autosomal dominant osteoarthritis with mild chondrodysplasia, Knowlton et al. (1990) found linkage of the disorder to the COL2A1 locus with a maximal lod score of 2.39 in multipoint analysis. </p><p>By linkage analysis in the family with Namaqualand hip dysplasia reported by Beighton et al. (1984), Sher et al. (1991) found close linkage with the COL2A1 gene with no recombination (lod = 7.98). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a kindred described by Knowlton et al. (1990) with dominantly inherited generalized osteoarthritis associated with a mild chondrodysplasia, Ala-Kokko et al. (1990) identified an arg519-to-cys mutation of the type II collagen gene (R519C; 120140.0003). </p><p>Holderbaum et al. (1993) referred to 2 additional families with precocious-onset osteoarthritis and mild chondrodysplasia caused by the R519C mutation in the COL2A1 gene. They reported studies suggesting that the mutation arose independently in at least 2 of the 3 known affected families. </p><p>Williams et al. (1995) found the R519C mutation in a fourth family with early-onset osteoarthritis and late-onset spondyloepiphyseal dysplasia. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Ala-Kokko, L., Baldwin, C. T., Moskowitz, R. W., Prockop, D. J.
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<strong>Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.</strong>
|
|
Proc. Nat. Acad. Sci. 87: 6565-6568, 1990.
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[PubMed: 1975693]
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[Full Text: https://doi.org/10.1073/pnas.87.17.6565]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Beighton, P., Christy, G., Learmonth, I. D.
|
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<strong>Namaqualand hip dysplasia: an autosomal dominant entity.</strong>
|
|
Am. J. Med. Genet. 19: 161-169, 1984.
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[PubMed: 6496567]
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[Full Text: https://doi.org/10.1002/ajmg.1320190116]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Holderbaum, D., Malemud, C. J., Moskowitz, R. W., Haqqi, T. M.
|
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<strong>Human cartilage from late stage familial osteoarthritis transcribes type II collagen mRNA encoding a cysteine in position 519.</strong>
|
|
Biochem. Biophys. Res. Commun. 192: 1169-1174, 1993.
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[PubMed: 8507190]
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[Full Text: https://doi.org/10.1006/bbrc.1993.1539]
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</p>
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</li>
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Knowlton, R. G., Katzenstein, P. L., Moskowitz, R. W., Weaver, E. J., Malemud, C. J., Pathria, M. N., Jimenez, S. A., Prockop, D. J.
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<strong>Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia.</strong>
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New Eng. J. Med. 322: 526-530, 1990.
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[PubMed: 2300123]
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[Full Text: https://doi.org/10.1056/NEJM199002223220807]
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Learmonth, I. D., Christy, G., Beighton, P.
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<strong>Namaqualand hip dysplasia: orthopaedic implications.</strong>
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Clin. Orthop. 218: 142-147, 1987.
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<li>
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Palotie, A., Vaisanen, P., Ott, J., Ryhanen, L., Vikkula, M., Cheah, K. S. E., Vuorio, E., Peltonen, L.
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<strong>Predisposition to familial osteoarthrosis is linked to type II collagen gene. (Abstract)</strong>
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Cytogenet. Cell Genet. 51: 1058 only, 1989.
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<li>
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<p class="mim-text-font">
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Sher, C., Ramesar, R., Martell, R., Learmonth, I., Tsipouras, P., Beighton, P.
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<strong>Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene (COL2A1).</strong>
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Am. J. Hum. Genet. 48: 518-524, 1991.
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[PubMed: 1671807]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Vaisanen, P., Palotie, A., Ott, J., Peltonen, L.
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<strong>RFLP studies of type II collagen gene for finding the possible linkage between the gene and osteoarthrosis (OA). (Abstract)</strong>
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Cytogenet. Cell Genet. 46: 707 only, 1987.
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</p>
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</li>
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<li>
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Williams, C. J., Rock, M., Considine, E., McCarron, S., Gow, P., Ladda, R., McLain, D., Michels, V. M., Murphy, W., Prockop, D. J., Ganguly, A.
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<strong>Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 arg519-to-cys base substitution using conformation sensitive gel electrophoresis.</strong>
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Hum. Molec. Genet. 4: 309-312, 1995.
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[PubMed: 7757086]
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[Full Text: https://doi.org/10.1093/hmg/4.2.309]
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Carol A. Bocchini - updated : 9/29/2015
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Victor A. McKusick : 4/21/2000
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