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<title>
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Entry
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- #608805 - AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1; ANFH1
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- OMIM
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<span class="h4">#608805</span>
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/608805"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS608805"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<li role="presentation" style="margin-left: 1em">
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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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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY) 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=11740&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/7795" 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=608805[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=86820" 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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<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> 203476003<br />
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<strong>ORPHA:</strong> 86820<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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608805
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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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AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1; ANFH1
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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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FEMORAL HEAD, AVASCULAR NECROSIS OF; ANFH<br />
|
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FEMORAL HEAD, ASEPTIC NECROSIS OF<br />
|
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ISCHEMIC NECROSIS OF FEMORAL HEAD<br />
|
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OSTEONECROSIS OF FEMORAL HEAD
|
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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">
|
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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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</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>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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Avascular necrosis of the femoral head
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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/608805"> 608805 </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/608805" 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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<a href="/phenotypicSeries/PS608805" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<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/608805" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/608805" 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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|
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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> SKELETAL </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Generalized osteoporosis (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551680&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551680</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040160" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040160</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040160" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040160</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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<span class="h5 mim-font">
|
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<em> Spine </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mild scoliosis (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839253&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839253</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pelvis </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Degeneration of hip joint <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230283&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230283</a>]</span><br /> -
|
|
Narrowing of joint space <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859695&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859695</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Avascular necrosis of the femoral head <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/203476003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">203476003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0410480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0410480</a>]</span><br /> -
|
|
Cystic changes of femoral head <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4227349&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4227349</a>]</span><br /> -
|
|
Sclerosis of femoral head <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230282&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230282</a>]</span><br /> -
|
|
Necrosis of bone and marrow tissue on histopathology <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230281&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230281</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
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|
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</div>
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|
|
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Patients present with groin pain<br /> -
|
|
Onset of symptoms in second to fifth decades of life<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
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|
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</div>
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the collagen type II alpha-1 gene (COL2A1, <a href="/entry/120140#0043">120140.0043</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Avascular necrosis of femoral head, primary
|
|
- <a href="/phenotypicSeries/PS608805">PS608805</a>
|
|
- 2 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/325?start=-3&limit=10&highlight=325"> 12q13.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608805"> Avascular necrosis of the femoral head </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608805"> 608805 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120140"> COL2A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120140"> 120140 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793"> 12q24.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617383"> ?Avascular necrosis of femoral head, primary, 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617383"> 617383 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605427"> TRPV4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605427"> 605427 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
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|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<a id="text" class="mim-anchor"></a>
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<p>A number sign (#) is used with this entry because of evidence that familial avascular necrosis of the femoral head-1 (ANFH1) is caused by heterozygous mutation in the COL2A1 gene (<a href="/entry/120140">120140</a>) on chromosome 12q13.</p>
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<p>Avascular necrosis of the femoral head (ANFH) is a debilitating disease that usually leads to destruction of the hip joint in the third to fifth decade of life. The disorder is characterized by progressive pain in the groin, mechanical failure of the subchondral bone, and degeneration of the hip joint. Nearly one-half of patients require hip replacement before 40 years of age. ANFH represents a specific form of the broader disease category of osteonecrosis (summary by <a href="#11" class="mim-tip-reference" title="Mont, M. A., Hungerford, D. S. <strong>Non-traumatic avascular necrosis of the femoral head.</strong> J. Bone Joint Surg. Am. 77: 459-474, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7890797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7890797</a>] [<a href="https://doi.org/10.2106/00004623-199503000-00018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7890797">Mont and Hungerford, 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7890797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Primary Avascular Necrosis of the Femoral Head</em></strong></p><p>
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ANFH2 is caused by mutation in the TRPV4 gene (<a href="/entry/605427">605427</a>) on chromosome 12q24.</p><p>Mutation in COL2A1 has also been found in Legg-Calves-Perthes disease (LCPD; <a href="/entry/150600">150600</a>), a form of ANFH in growing children.</p>
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<p><a href="#5" class="mim-tip-reference" title="Chen, W.-M., Liu, Y.-F., Lin, M.-W., Chen, I.-C., Lin, P.-Y., Lin, G.-L., Jou, Y.-S., Lin, Y.-T., Fann, C. S. J., Wu, J.-Y., Hsaio, K.-J., Tsai, S.-F. <strong>Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13.</strong> Am. J. Hum. Genet. 75: 310-317, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15179599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15179599</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15179599[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/422702" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15179599">Chen et al. (2004)</a> reported 2 large Taiwanese families segregating autosomal dominant idiopathic avascular necrosis of the femoral head over 4 generations (family A) and 5 generations (family B). In family A, 16 members were affected, including 11 females and 5 males, with an average age at onset of 26 years (range, 15-48 years). All presented with symptoms of pain in the groin. Examination revealed average stature and unremarkable musculoskeletal findings, with no evidence of chondrodysplasia. Using the Ficat system, 5 patients were classified as stage II and 7 were classified as stage IV (advanced lesions). In family B, 8 females and 8 males were affected, with an age at onset ranging from 12 to 37 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15179599" 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="#8" class="mim-tip-reference" title="Liu, Y.-F., Chen, W.-M., Lin, Y.-F., Yang, R.-C., Lin, M.-W., Li, L.-H., Chang, Y.-H., Jou, Y.-S., Lin, P.-Y., Su, J.-S., Huang, S.-F., Hsaio, K.-J., Fann, C. S. J., Hwang, H.-W., Chen, Y.-T., Tsai, S.-F. <strong>Type II collagen variants and inherited osteonecrosis of the femoral head.</strong> New Eng. J. Med. 352: 2294-2301, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15930420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15930420</a>] [<a href="https://doi.org/10.1056/NEJMoa042480" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15930420">Liu et al. (2005)</a> restudied the 2 families with ANFH previously reported by <a href="#5" class="mim-tip-reference" title="Chen, W.-M., Liu, Y.-F., Lin, M.-W., Chen, I.-C., Lin, P.-Y., Lin, G.-L., Jou, Y.-S., Lin, Y.-T., Fann, C. S. J., Wu, J.-Y., Hsaio, K.-J., Tsai, S.-F. <strong>Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13.</strong> Am. J. Hum. Genet. 75: 310-317, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15179599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15179599</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15179599[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/422702" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15179599">Chen et al. (2004)</a> as well as another 3-generation Taiwanese family with 6 affected members (family C). Radiographs at age 21 years of a female twin from family A, who presented at age 16 years with groin pain, revealed stage II disease with cystic and sclerotic changes in both femoral heads. Examination of a core decompression specimen from the right femoral head showed several dead bony fragments mixed with necrotic marrow tissue and fat cells in the marrow space. Radiographs of a 34-year-old man from family A showed stage IV disease with joint space narrowing and involvement of the acetabula. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15930420+15179599" 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="#7" class="mim-tip-reference" title="Kannu, P., O'Rielly, D. D., Hyland, J. C., Ala Kokko, L. <strong>Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1.</strong> Am. J. Med. Genet. 155A: 1759-1762, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21671384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21671384</a>] [<a href="https://doi.org/10.1002/ajmg.a.34056" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21671384">Kannu et al. (2011)</a> reported a 40-year-old man who was diagnosed with ANFH at age 18 years and underwent bilateral hip replacement at age 33. He had generalized osteoporosis by DEXA scan and a normal skeletal survey, other than bilateral hip degeneration. He had no facial dysmorphism, and ophthalmologic and audiologic examinations were normal. The proband's 2 sisters, who were of average stature, had normal skeletal radiographs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21671384" 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 ANFH in the families reported by <a href="#5" class="mim-tip-reference" title="Chen, W.-M., Liu, Y.-F., Lin, M.-W., Chen, I.-C., Lin, P.-Y., Lin, G.-L., Jou, Y.-S., Lin, Y.-T., Fann, C. S. J., Wu, J.-Y., Hsaio, K.-J., Tsai, S.-F. <strong>Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13.</strong> Am. J. Hum. Genet. 75: 310-317, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15179599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15179599</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15179599[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/422702" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15179599">Chen et al. (2004)</a> and <a href="#8" class="mim-tip-reference" title="Liu, Y.-F., Chen, W.-M., Lin, Y.-F., Yang, R.-C., Lin, M.-W., Li, L.-H., Chang, Y.-H., Jou, Y.-S., Lin, P.-Y., Su, J.-S., Huang, S.-F., Hsaio, K.-J., Fann, C. S. J., Hwang, H.-W., Chen, Y.-T., Tsai, S.-F. <strong>Type II collagen variants and inherited osteonecrosis of the femoral head.</strong> New Eng. J. Med. 352: 2294-2301, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15930420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15930420</a>] [<a href="https://doi.org/10.1056/NEJMoa042480" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15930420">Liu et al. (2005)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15930420+15179599" 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 Taiwan, <a href="#5" class="mim-tip-reference" title="Chen, W.-M., Liu, Y.-F., Lin, M.-W., Chen, I.-C., Lin, P.-Y., Lin, G.-L., Jou, Y.-S., Lin, Y.-T., Fann, C. S. J., Wu, J.-Y., Hsaio, K.-J., Tsai, S.-F. <strong>Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13.</strong> Am. J. Hum. Genet. 75: 310-317, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15179599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15179599</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15179599[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/422702" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15179599">Chen et al. (2004)</a> identified 2 families with ANFH showing autosomal dominant inheritance. By linkage analysis in a 4-generation family, they excluded linkage with PROC, PROS1, and PAI, which had been implicated in thrombophilia or hypofibrinolysis. Furthermore, by a genomewide scan, a significant 2-point lod score of 3.45 (theta = 0.0) was obtained between ANFH and marker D12S85 on chromosome 12. High-resolution mapping was conducted in a second family with ANFH, with replication of the linkage to D12S368. When an age-dependent penetrance model was applied, the combined multipoint lod score was 6.43 between D12S1663 and D12S85, a 15-cM region on 12q13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15179599" 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>It has been suggested that a common pathway of pathogenesis of ANFH involves the interruption of blood circulation to the anterior-superior-lateral part of the femoral head, leading to ischemic insult and bone collapse (<a href="#3" class="mim-tip-reference" title="Atsumi, T., Kuroki, Y. <strong>Role of impairment of blood supply of the femoral head in the pathogenesis of idiopathic osteonecrosis.</strong> Clin. Orthop. 277: 22-30, 1992."None>Atsumi and Kuroki, 1992</a>). The disease is aggravated by mechanical disruption, e.g., hip fracture (<a href="#4" class="mim-tip-reference" title="Bachiller, F. G.-C., Caballer, A. P., Portal, L. F. <strong>Avascular necrosis of the femoral head after femoral neck fracture.</strong> Clin. Orthop. 399: 87-109, 2002."None>Bachiller et al., 2002</a>); by external pressure on or damage to a vessel wall, e.g., vasculitis (<a href="#12" class="mim-tip-reference" title="Wang, T.-Y., Avlonitis, E. G., Relkin, R. <strong>Systemic necrotizing vasculitis causing bone necrosis.</strong> Am. J. Med. 84: 1085-1086, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2897791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2897791</a>] [<a href="https://doi.org/10.1016/0002-9343(88)90319-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2897791">Wang et al., 1988</a>), radiation therapy (<a href="#9" class="mim-tip-reference" title="Massin, P., Duparc, J. <strong>Total hip replacement in irradiated hips: a retrospective study of 71 cases.</strong> J. Bone Joint Surg. Br. 77: 847-852, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7593093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7593093</a>]" pmid="7593093">Massin and Duparc, 1995</a>), and systemic lupus erythematosus (<a href="#1" class="mim-tip-reference" title="Abu-Shakra, M., Buskila, D., Shoenfeld, Y. <strong>Osteonecrosis in patients with SLE.</strong> Clin. Rev. Allergy Immun. 25: 13-24, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12794257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12794257</a>] [<a href="https://doi.org/10.1385/CRIAI:25:1:13" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12794257">Abu-Shakra et al., 2003</a>); arterial thrombosis or embolism, e.g., sickle cell disease (<a href="#10" class="mim-tip-reference" title="Milner, P. F., Kraus, A. P., Sebes, J. I., Sleeper, L. A., Dukes, K. A., Embury, S. H., Bellevue, R., Koshy, M., Moohr, J. W., Smith, J. <strong>Sickle cell disease as a cause of osteonecrosis of the femoral head.</strong> New Eng. J. Med. 325: 1476-1481, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1944426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1944426</a>] [<a href="https://doi.org/10.1056/NEJM199111213252104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1944426">Milner et al., 1991</a>); corticosteroid use (<a href="#6" class="mim-tip-reference" title="Fisher, D. E. <strong>The role of fat embolism in the etiology of corticosteroid-induced avascular necrosis: clinical and experimental results.</strong> Clin. Orthop. 130: 68-80, 1978."None>Fisher, 1978</a>); and alcohol abuse (<a href="#13" class="mim-tip-reference" title="Wang, Y., Li, Y., Mao, K., Li, J., Cui, Q., Wang, G.-J. <strong>Alcohol-induced adipogenesis in bone and marrow: a possible mechanism for osteonecrosis.</strong> Clin. Orthop. Relat. Dis. 410: 213-224, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12771833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12771833</a>] [<a href="https://doi.org/10.1097/01.blo.0000063602.67412.83" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12771833">Wang et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12771833+1944426+2897791+12794257+7593093" 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>Although a major proportion of individuals with ANFH have underlying risk factors and are classified as having secondary ANFH, 15 to 30% of patients showing no apparent risk factors are classified as having primary or idiopathic ANFH (<a href="#2" class="mim-tip-reference" title="Assouline-Dayan, Y., Chang, C., Greenspan, A., Shoenfeld, Y., Gershwin, M. E. <strong>Pathogenesis and natural history of osteonecrosis.</strong> Semin. Arthritis Rheum. 32: 94-124, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12430099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12430099</a>]" pmid="12430099">Assouline-Dayan et al., 2002</a>). Some ANFH previously considered idiopathic may actually represent a feature of hereditary thrombophilia (an increased tendency for intravascular thrombosis) or hypofibrinolysis (a reduced ability to lyse thrombi). Deficiency of activated protein C (PROC; <a href="/entry/612283">612283</a>) or protein S (PROS1; <a href="/entry/176880">176880</a>), resulting in thrombophilia (<a href="/entry/176860">176860</a>; <a href="/entry/612336">612336</a>), has been reported to be associated with osteonecrosis of the hip in adults and with LCP in children. Hypofibrinolysis, mediated by high levels of plasminogen activator inhibitor (PAI; <a href="/entry/173360">173360</a>), has been cited as a major cause of idiopathic osteonecrosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12430099" 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><a href="#8" class="mim-tip-reference" title="Liu, Y.-F., Chen, W.-M., Lin, Y.-F., Yang, R.-C., Lin, M.-W., Li, L.-H., Chang, Y.-H., Jou, Y.-S., Lin, P.-Y., Su, J.-S., Huang, S.-F., Hsaio, K.-J., Fann, C. S. J., Hwang, H.-W., Chen, Y.-T., Tsai, S.-F. <strong>Type II collagen variants and inherited osteonecrosis of the femoral head.</strong> New Eng. J. Med. 352: 2294-2301, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15930420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15930420</a>] [<a href="https://doi.org/10.1056/NEJMoa042480" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15930420">Liu et al. (2005)</a> identified 3 families in which there was autosomal dominant inheritance of ANFH, with mapping of the phenotype to 12q13. They carried out haplotype analysis in the families, selected candidate genes in the critical interval for ANFH on 12q13, and sequenced the promoter and exonic regions of the type II collagen gene (COL2A1; <a href="/entry/120140">120140</a>) from patients with inherited and sporadic forms of ANFH. The same gly1170-to-ser (<a href="/entry/120140#0043">120140.0043</a>) mutation was found in 2 separate families, with the mutant allele occurring on different haplotype backgrounds. In the third family, a gly717-to-ser (<a href="/entry/120140#0044">120140.0044</a>) mutation was detected. No mutation was found in the COL2A1 coding region in sporadic cases of ANFH. The authors pointed out that in families with ANFH, haplotype and sequence analysis of the COL2A1 gene can be used to identify carriers of the mutant allele before the onset of clinical symptoms, allowing the initiation of measures that may delay progression of the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15930420" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 40-year-old man with avascular necrosis of the femoral head who was negative for mutation in the COMP (<a href="/entry/600310">600310</a>), COL9A1 (<a href="/entry/120210">120210</a>), COL9A2 (<a href="/entry/120260">120260</a>), COL9A3 (<a href="/entry/120270">120270</a>), DTDST (<a href="/entry/606718">606718</a>), and MATN3 (<a href="/entry/602109">602109</a>) genes, <a href="#7" class="mim-tip-reference" title="Kannu, P., O'Rielly, D. D., Hyland, J. C., Ala Kokko, L. <strong>Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1.</strong> Am. J. Med. Genet. 155A: 1759-1762, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21671384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21671384</a>] [<a href="https://doi.org/10.1002/ajmg.a.34056" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21671384">Kannu et al. (2011)</a> identified a heterozygous missense mutation in the COL2A1 gene (<a href="/entry/120140#0054">120140.0054</a>) that was not found in unaffected family members or in 150 age-, sex-, and ethnicity-matched controls. One of the proband's 2 unaffected sisters had a daughter diagnosed radiographically with multiple epiphyseal dysplasia at 10 years of age who was negative for mutation in COL2A1 and 6 other candidate genes. Because most COL2A1 mutations are private, <a href="#7" class="mim-tip-reference" title="Kannu, P., O'Rielly, D. D., Hyland, J. C., Ala Kokko, L. <strong>Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1.</strong> Am. J. Med. Genet. 155A: 1759-1762, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21671384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21671384</a>] [<a href="https://doi.org/10.1002/ajmg.a.34056" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21671384">Kannu et al. (2011)</a> suggested that complete COL2A1 analysis should be considered in individuals presenting with early-onset degenerative hip disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21671384" 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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Chen, W.-M., Liu, Y.-F., Lin, M.-W., Chen, I.-C., Lin, P.-Y., Lin, G.-L., Jou, Y.-S., Lin, Y.-T., Fann, C. S. J., Wu, J.-Y., Hsaio, K.-J., Tsai, S.-F.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15179599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15179599</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15179599[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15179599" 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/10.1086/422702" target="_blank">Full Text</a>]
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Kannu, P., O'Rielly, D. D., Hyland, J. C., Ala Kokko, L.
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<strong>Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1.</strong>
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Am. J. Med. Genet. 155A: 1759-1762, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21671384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21671384</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21671384" 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.a.34056" target="_blank">Full Text</a>]
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Liu, Y.-F., Chen, W.-M., Lin, Y.-F., Yang, R.-C., Lin, M.-W., Li, L.-H., Chang, Y.-H., Jou, Y.-S., Lin, P.-Y., Su, J.-S., Huang, S.-F., Hsaio, K.-J., Fann, C. S. J., Hwang, H.-W., Chen, Y.-T., Tsai, S.-F.
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<strong>Type II collagen variants and inherited osteonecrosis of the femoral head.</strong>
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New Eng. J. Med. 352: 2294-2301, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15930420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15930420</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15930420" 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/NEJMoa042480" target="_blank">Full Text</a>]
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Milner, P. F., Kraus, A. P., Sebes, J. I., Sleeper, L. A., Dukes, K. A., Embury, S. H., Bellevue, R., Koshy, M., Moohr, J. W., Smith, J.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1944426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1944426</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1944426" 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/NEJM199111213252104" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.2106/00004623-199503000-00018" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9343(88)90319-1" target="_blank">Full Text</a>]
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Wang, Y., Li, Y., Mao, K., Li, J., Cui, Q., Wang, G.-J.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12771833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12771833</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12771833" 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/10.1097/01.blo.0000063602.67412.83" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 1/11/2016
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Marla J. F. O'Neill - updated : 10/17/2011<br>Victor A. McKusick - updated : 6/13/2007<br>Victor A. McKusick - updated : 6/17/2005
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Victor A. McKusick : 7/19/2004
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carol : 04/05/2022
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alopez : 04/04/2022<br>carol : 03/02/2017<br>carol : 04/11/2016<br>carol : 1/11/2016<br>joanna : 1/4/2016<br>carol : 9/29/2015<br>carol : 10/18/2011<br>terry : 10/17/2011<br>carol : 10/13/2011<br>terry : 1/13/2011<br>terry : 11/8/2010<br>carol : 5/25/2010<br>carol : 10/9/2008<br>carol : 9/12/2008<br>carol : 6/15/2007<br>carol : 6/15/2007<br>terry : 6/13/2007<br>carol : 1/6/2006<br>alopez : 6/22/2005<br>terry : 6/17/2005<br>alopez : 7/19/2004
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<strong>#</strong> 608805
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AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1; ANFH1
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FEMORAL HEAD, AVASCULAR NECROSIS OF; ANFH<br />
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FEMORAL HEAD, ASEPTIC NECROSIS OF<br />
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ISCHEMIC NECROSIS OF FEMORAL HEAD<br />
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OSTEONECROSIS OF FEMORAL HEAD
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<strong>SNOMEDCT:</strong> 203476003;
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<strong>ORPHA:</strong> 86820;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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12q13.11
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Avascular necrosis of the femoral head
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608805
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Autosomal dominant
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3
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COL2A1
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120140
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<p>A number sign (#) is used with this entry because of evidence that familial avascular necrosis of the femoral head-1 (ANFH1) is caused by heterozygous mutation in the COL2A1 gene (120140) on chromosome 12q13.</p>
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<strong>Description</strong>
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<p>Avascular necrosis of the femoral head (ANFH) is a debilitating disease that usually leads to destruction of the hip joint in the third to fifth decade of life. The disorder is characterized by progressive pain in the groin, mechanical failure of the subchondral bone, and degeneration of the hip joint. Nearly one-half of patients require hip replacement before 40 years of age. ANFH represents a specific form of the broader disease category of osteonecrosis (summary by Mont and Hungerford, 1995). </p><p><strong><em>Genetic Heterogeneity of Primary Avascular Necrosis of the Femoral Head</em></strong></p><p>
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ANFH2 is caused by mutation in the TRPV4 gene (605427) on chromosome 12q24.</p><p>Mutation in COL2A1 has also been found in Legg-Calves-Perthes disease (LCPD; 150600), a form of ANFH in growing children.</p>
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<strong>Clinical Features</strong>
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<p>Chen et al. (2004) reported 2 large Taiwanese families segregating autosomal dominant idiopathic avascular necrosis of the femoral head over 4 generations (family A) and 5 generations (family B). In family A, 16 members were affected, including 11 females and 5 males, with an average age at onset of 26 years (range, 15-48 years). All presented with symptoms of pain in the groin. Examination revealed average stature and unremarkable musculoskeletal findings, with no evidence of chondrodysplasia. Using the Ficat system, 5 patients were classified as stage II and 7 were classified as stage IV (advanced lesions). In family B, 8 females and 8 males were affected, with an age at onset ranging from 12 to 37 years. </p><p>Liu et al. (2005) restudied the 2 families with ANFH previously reported by Chen et al. (2004) as well as another 3-generation Taiwanese family with 6 affected members (family C). Radiographs at age 21 years of a female twin from family A, who presented at age 16 years with groin pain, revealed stage II disease with cystic and sclerotic changes in both femoral heads. Examination of a core decompression specimen from the right femoral head showed several dead bony fragments mixed with necrotic marrow tissue and fat cells in the marrow space. Radiographs of a 34-year-old man from family A showed stage IV disease with joint space narrowing and involvement of the acetabula. </p><p>Kannu et al. (2011) reported a 40-year-old man who was diagnosed with ANFH at age 18 years and underwent bilateral hip replacement at age 33. He had generalized osteoporosis by DEXA scan and a normal skeletal survey, other than bilateral hip degeneration. He had no facial dysmorphism, and ophthalmologic and audiologic examinations were normal. The proband's 2 sisters, who were of average stature, had normal skeletal radiographs. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of ANFH in the families reported by Chen et al. (2004) and Liu et al. (2005) was consistent with autosomal dominant inheritance. </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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<p>In Taiwan, Chen et al. (2004) identified 2 families with ANFH showing autosomal dominant inheritance. By linkage analysis in a 4-generation family, they excluded linkage with PROC, PROS1, and PAI, which had been implicated in thrombophilia or hypofibrinolysis. Furthermore, by a genomewide scan, a significant 2-point lod score of 3.45 (theta = 0.0) was obtained between ANFH and marker D12S85 on chromosome 12. High-resolution mapping was conducted in a second family with ANFH, with replication of the linkage to D12S368. When an age-dependent penetrance model was applied, the combined multipoint lod score was 6.43 between D12S1663 and D12S85, a 15-cM region on 12q13. </p>
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<strong>Pathogenesis</strong>
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<p>It has been suggested that a common pathway of pathogenesis of ANFH involves the interruption of blood circulation to the anterior-superior-lateral part of the femoral head, leading to ischemic insult and bone collapse (Atsumi and Kuroki, 1992). The disease is aggravated by mechanical disruption, e.g., hip fracture (Bachiller et al., 2002); by external pressure on or damage to a vessel wall, e.g., vasculitis (Wang et al., 1988), radiation therapy (Massin and Duparc, 1995), and systemic lupus erythematosus (Abu-Shakra et al., 2003); arterial thrombosis or embolism, e.g., sickle cell disease (Milner et al., 1991); corticosteroid use (Fisher, 1978); and alcohol abuse (Wang et al., 2003). </p><p>Although a major proportion of individuals with ANFH have underlying risk factors and are classified as having secondary ANFH, 15 to 30% of patients showing no apparent risk factors are classified as having primary or idiopathic ANFH (Assouline-Dayan et al., 2002). Some ANFH previously considered idiopathic may actually represent a feature of hereditary thrombophilia (an increased tendency for intravascular thrombosis) or hypofibrinolysis (a reduced ability to lyse thrombi). Deficiency of activated protein C (PROC; 612283) or protein S (PROS1; 176880), resulting in thrombophilia (176860; 612336), has been reported to be associated with osteonecrosis of the hip in adults and with LCP in children. Hypofibrinolysis, mediated by high levels of plasminogen activator inhibitor (PAI; 173360), has been cited as a major cause of idiopathic osteonecrosis. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>Liu et al. (2005) identified 3 families in which there was autosomal dominant inheritance of ANFH, with mapping of the phenotype to 12q13. They carried out haplotype analysis in the families, selected candidate genes in the critical interval for ANFH on 12q13, and sequenced the promoter and exonic regions of the type II collagen gene (COL2A1; 120140) from patients with inherited and sporadic forms of ANFH. The same gly1170-to-ser (120140.0043) mutation was found in 2 separate families, with the mutant allele occurring on different haplotype backgrounds. In the third family, a gly717-to-ser (120140.0044) mutation was detected. No mutation was found in the COL2A1 coding region in sporadic cases of ANFH. The authors pointed out that in families with ANFH, haplotype and sequence analysis of the COL2A1 gene can be used to identify carriers of the mutant allele before the onset of clinical symptoms, allowing the initiation of measures that may delay progression of the disease. </p><p>In a 40-year-old man with avascular necrosis of the femoral head who was negative for mutation in the COMP (600310), COL9A1 (120210), COL9A2 (120260), COL9A3 (120270), DTDST (606718), and MATN3 (602109) genes, Kannu et al. (2011) identified a heterozygous missense mutation in the COL2A1 gene (120140.0054) that was not found in unaffected family members or in 150 age-, sex-, and ethnicity-matched controls. One of the proband's 2 unaffected sisters had a daughter diagnosed radiographically with multiple epiphyseal dysplasia at 10 years of age who was negative for mutation in COL2A1 and 6 other candidate genes. Because most COL2A1 mutations are private, Kannu et al. (2011) suggested that complete COL2A1 analysis should be considered in individuals presenting with early-onset degenerative hip disease. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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<p />
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<ol>
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<p class="mim-text-font">
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Abu-Shakra, M., Buskila, D., Shoenfeld, Y.
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<strong>Osteonecrosis in patients with SLE.</strong>
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Clin. Rev. Allergy Immun. 25: 13-24, 2003.
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[PubMed: 12794257]
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[Full Text: https://doi.org/10.1385/CRIAI:25:1:13]
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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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Assouline-Dayan, Y., Chang, C., Greenspan, A., Shoenfeld, Y., Gershwin, M. E.
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<strong>Pathogenesis and natural history of osteonecrosis.</strong>
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Semin. Arthritis Rheum. 32: 94-124, 2002.
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[PubMed: 12430099]
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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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Atsumi, T., Kuroki, Y.
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<strong>Role of impairment of blood supply of the femoral head in the pathogenesis of idiopathic osteonecrosis.</strong>
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Clin. Orthop. 277: 22-30, 1992.
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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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Bachiller, F. G.-C., Caballer, A. P., Portal, L. F.
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<strong>Avascular necrosis of the femoral head after femoral neck fracture.</strong>
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Clin. Orthop. 399: 87-109, 2002.
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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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Chen, W.-M., Liu, Y.-F., Lin, M.-W., Chen, I.-C., Lin, P.-Y., Lin, G.-L., Jou, Y.-S., Lin, Y.-T., Fann, C. S. J., Wu, J.-Y., Hsaio, K.-J., Tsai, S.-F.
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<strong>Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13.</strong>
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Am. J. Hum. Genet. 75: 310-317, 2004.
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[PubMed: 15179599]
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[Full Text: https://doi.org/10.1086/422702]
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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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Fisher, D. E.
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<strong>The role of fat embolism in the etiology of corticosteroid-induced avascular necrosis: clinical and experimental results.</strong>
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Clin. Orthop. 130: 68-80, 1978.
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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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Kannu, P., O'Rielly, D. D., Hyland, J. C., Ala Kokko, L.
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<strong>Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1.</strong>
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Am. J. Med. Genet. 155A: 1759-1762, 2011.
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[PubMed: 21671384]
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[Full Text: https://doi.org/10.1002/ajmg.a.34056]
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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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Liu, Y.-F., Chen, W.-M., Lin, Y.-F., Yang, R.-C., Lin, M.-W., Li, L.-H., Chang, Y.-H., Jou, Y.-S., Lin, P.-Y., Su, J.-S., Huang, S.-F., Hsaio, K.-J., Fann, C. S. J., Hwang, H.-W., Chen, Y.-T., Tsai, S.-F.
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<strong>Type II collagen variants and inherited osteonecrosis of the femoral head.</strong>
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New Eng. J. Med. 352: 2294-2301, 2005.
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[PubMed: 15930420]
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[Full Text: https://doi.org/10.1056/NEJMoa042480]
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Milner, P. F., Kraus, A. P., Sebes, J. I., Sleeper, L. A., Dukes, K. A., Embury, S. H., Bellevue, R., Koshy, M., Moohr, J. W., Smith, J.
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<strong>Sickle cell disease as a cause of osteonecrosis of the femoral head.</strong>
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Mont, M. A., Hungerford, D. S.
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<strong>Non-traumatic avascular necrosis of the femoral head.</strong>
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J. Bone Joint Surg. Am. 77: 459-474, 1995.
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Wang, T.-Y., Avlonitis, E. G., Relkin, R.
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<strong>Systemic necrotizing vasculitis causing bone necrosis.</strong>
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Am. J. Med. 84: 1085-1086, 1988.
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Wang, Y., Li, Y., Mao, K., Li, J., Cui, Q., Wang, G.-J.
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<strong>Alcohol-induced adipogenesis in bone and marrow: a possible mechanism for osteonecrosis.</strong>
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Marla J. F. O'Neill - updated : 1/11/2016<br>Marla J. F. O'Neill - updated : 10/17/2011<br>Victor A. McKusick - updated : 6/13/2007<br>Victor A. McKusick - updated : 6/17/2005
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