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<title>
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Entry
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- #150600 - LEGG-CALVE-PERTHES DISEASE; LCPD
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- OMIM
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<span class="h4">#150600</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/150600"><strong>Clinical Synopsis</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="#otherFeatures">Other Features</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></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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<div><a href="https://clinicaltrials.gov/search?cond=(LEGG-CALVE-PERTHES DISEASE) 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=841&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.diseaseinfosearch.org/x/4151" 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://medlineplus.gov/genetics/condition/legg-calve-perthes-disease" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=150600[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=2380" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="small">
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<div style="display: table-cell;">Animal Models</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:14415" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/150600" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA000586/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:150600" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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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<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> 111255008<br />
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<strong>ICD10CM:</strong> M91.1<br />
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<strong>ORPHA:</strong> 2380<br />
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<strong>DO:</strong> 14415<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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150600
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</span>
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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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LEGG-CALVE-PERTHES DISEASE; LCPD
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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LCP<br />
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LEGG-PERTHES DISEASE<br />
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PERTHES DISEASE
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</h4>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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Location
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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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Inheritance
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<th>
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Phenotype <br /> mapping key
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Gene/Locus
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<th>
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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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<a href="/geneMap/12/325?start=-3&limit=10&highlight=325">
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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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Legg-Calve-Perthes disease
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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/150600"> 150600 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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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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</tbody>
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</table>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/150600" 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 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/150600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/150600" 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> Limbs </strong>
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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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- Painful limp<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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<strong> Skel </strong>
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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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- Legg-Calve-Perthes disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111255008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111255008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M91.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M91.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1442965&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1442965</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005743</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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<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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<span class="mim-font">
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- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</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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<span class="h5 mim-font">
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<strong> Misc </strong>
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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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- Onset 6-9 years<br /> - More severe in females<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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<span class="h5 mim-font">
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<strong> Radiology </strong>
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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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- Necrosis of capital femoral epiphysis<br /> - Delayed bone age <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/123983008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">123983008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0541764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0541764</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002750</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002750</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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<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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<span class="mim-font">
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- Autosomal dominant vs. multifactorial<br />
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</span>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<div>
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<br />
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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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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that Legg-Calve-Perthes disease (LCPD), a form of avascular necrosis of the femoral head (ANFH; see <a href="/entry/608805">608805</a>) in growing children, is caused by heterozygous mutation in the COL2A1 (<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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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Legg-Calve-Perthes disease (LCPD) is characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone. The disease occurs more frequently in boys, and most patients tend to be shorter than their peers. Both familial and isolated cases of LCPD have been reported (summary by <a href="#2" 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>). <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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<br />
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<strong>Clinical Features</strong>
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<p><a href="#15" class="mim-tip-reference" title="Wamoscher, Z., Farhi, A. <strong>Hereditary Legg-Calve-Perthes disease.</strong> Am. J. Dis. Child. 106: 97-100, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13998760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13998760</a>] [<a href="https://doi.org/10.1001/archpedi.1963.02080050099016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13998760">Wamoscher and Farhi (1963)</a> described a Jewish family in which 8 members of 3 generations were affected. Boys predominate heavily in all reports of sporadic cases of the disease. In the families with multiple cases the sex ratio has been closer to 1. A similar phenomenon has been observed in ankylosing spondylitis (<a href="/entry/106300">106300</a>) and in congenital dislocation of the hip. When familial, the disorder may be more likely to show bilateral involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13998760" 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="#10" class="mim-tip-reference" title="McNutt, W. <strong>Inherited vascular pattern of the femoral head and neck as a predisposing factor to Legg-Calve-Perthes disease.</strong> Texas Rep. Biol. Med. 20: 525-531, 1962."None>McNutt (1962)</a> suggested that a peculiarity in vascular supply of the femoral head and neck may be inherited as the factor predisposing to this disorder. <a href="#1" class="mim-tip-reference" title="Caffey, J. P. <strong>The early roentgenographic changes in essential coxa plana: their significance in pathogenesis.</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 103: 620-634, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5659978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5659978</a>] [<a href="https://doi.org/10.2214/ajr.103.3.620" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5659978">Caffey (1968)</a> was of the view that coxa plana, as he termed this condition, really represents at least in its initiation a stress fracture and not avascular necrosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5659978" 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="#14" class="mim-tip-reference" title="Stephens, F. E., Kerby, J. P. <strong>Hereditary Legg-Calve-Perthes disease.</strong> J. Hered. 37: 153-160, 1946.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20988421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20988421</a>] [<a href="https://doi.org/10.1093/oxfordjournals.jhered.a105605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20988421">Stephens and Kerby (1946)</a> observed many affected persons in 5 generations. <a href="#9" class="mim-tip-reference" title="McKusick, V. A. <strong>Personal Communication.</strong> Baltimore, Md. 1968."None>McKusick (1968)</a> observed affected father and 2 sons, indicating autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20988421" 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="#5" class="mim-tip-reference" title="Gray, I. M., Lowry, R. B., Renwick, D. H. G. <strong>Incidence and genetics of Legg-Perthes disease (osteochondritis deformans) in British Columbia: evidence of polygenic determination.</strong> J. Med. Genet. 9: 197-202, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5046630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5046630</a>] [<a href="https://doi.org/10.1136/jmg.9.2.197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5046630">Gray et al. (1972)</a> found evidence suggesting polygenic inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5046630" 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="Harper, P. S., Brotherton, J., Cochlin, D. <strong>Genetic risks in Perthes' disease.</strong> Clin. Genet. 10: 178-182, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/963906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">963906</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1976.tb00030.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="963906">Harper et al. (1976)</a> did a population study of Perthes disease in South Wales over a 25-year period. The risk to sibs was less than 1% (2 in 323), and the risk to offspring of an affected parent was about 3% (1 in 35). No increased risk was found in relatives of patients with bilateral rather than unilateral disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=963906" 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="#6" class="mim-tip-reference" title="Hall, D. J. <strong>Genetic aspects of Perthes' disease: a critical review.</strong> Clin. Orthop. Relat. Res. 209: 100-114, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3731583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3731583</a>]" pmid="3731583">Hall (1986)</a> combined family data from a series of 87 boys and 58 girls with Perthes disease with those of <a href="#5" class="mim-tip-reference" title="Gray, I. M., Lowry, R. B., Renwick, D. H. G. <strong>Incidence and genetics of Legg-Perthes disease (osteochondritis deformans) in British Columbia: evidence of polygenic determination.</strong> J. Med. Genet. 9: 197-202, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5046630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5046630</a>] [<a href="https://doi.org/10.1136/jmg.9.2.197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5046630">Gray et al. (1972)</a>. Proportions of first-, second-, and third-degree relatives affected in relation to the frequency in the general population showed a gradient of 35:4:4:1 consistent with multifactorial inheritance. She calculated a recurrence risk of 2.6% for sibs and offspring. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3731583+5046630" 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="#3" class="mim-tip-reference" title="Glueck, C. J., Glueck, H. I., Greenfield, D., Freiberg, R., Kahn, A., Hamer, T., Stroop, D., Tracy, T. <strong>Protein C and S deficiency, thrombophilia, and hypofibrinolysis: pathophysiologic causes of Legg-Perthes disease.</strong> Pediat. Res. 35: 383-388, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8047373/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8047373</a>]" pmid="8047373">Glueck et al. (1994)</a> suggested that a tendency to thrombosis may predispose to Legg-Perthes disease. In 8 patients with this disorder, they found protein C deficiency (<a href="/entry/176860">176860</a>) in 3 and protein S deficiency (<a href="/entry/612336">612336</a>) in 1. Another 1 of the 8 patients had hypofibrinolysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8047373" 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>Avascular necrosis of the femoral head is a debilitating disease that usually leads to destruction of the hip joint in the third to fifth decade of life (<a href="#12" 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>). Like Legg-Perthes disease, the common pathway of pathogenesis of ANFH is thought to involve the interruption of blood circulation to the femoral head, leading to ischemic insult and bone collapse. Legg-Perthes disease results in ANFH in a growing child. <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>
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<p>In affected members of a Japanese family segregating Legg-Calve-Perthes disease, <a href="#11" class="mim-tip-reference" title="Miyamoto, Y., Matsuda, T., Kitoh, H., Haga, N., Ohashi, H., Nishimura, G., Ikegawa, S. <strong>A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family.</strong> Hum. Genet. 121: 625-629, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17394019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17394019</a>] [<a href="https://doi.org/10.1007/s00439-007-0354-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17394019">Miyamoto et al. (2007)</a> identified a missense mutation in the COL2A1 gene (<a href="/entry/120140#0043">120140.0043</a>). The same mutation had previously been identified in patients with ANFH. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17394019" 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="#13" class="mim-tip-reference" title="Nevelos, A. B. <strong>Perthes' disease: the family tree.</strong> Clin. Orthop. 209: 13-22, 1986."None>Nevelos (1986)</a> traced the nosography of Perthes disease. Although it had been described on clinical grounds, Perthes disease was not really fully recognized and distinguished from the very common bone and joint tuberculosis until after the discovery of x-rays in 1895.</p>
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<p>In dog models, when venous drainage of the surgical neck of the femur is obstructed, avascular necrosis resembling that of Legg-Perthes disease develops (<a href="#8" class="mim-tip-reference" title="Liu, S.-L., Ho, T.-C. <strong>The role of venous hypertension in the pathogenesis of Legg-Perthes disease: a clinical and experimental study.</strong> J. Bone Joint Surg. Am. 73: 194-200, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1993714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1993714</a>]" pmid="1993714">Liu and Ho, 1991</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1993714" 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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<a href="#Goff1962" class="mim-tip-reference" title="Goff, C. W. <strong>Legg-Calve-Perthes syndrome (LCPS). An up-to-date critical review.</strong> Clin. Orthop. 22: 93-107, 1962.">Goff (1962)</a>
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<strong>The early roentgenographic changes in essential coxa plana: their significance in pathogenesis.</strong>
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Am. J. Roentgen. Radium Ther. Nucl. Med. 103: 620-634, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5659978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5659978</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5659978" 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/10.2214/ajr.103.3.620" target="_blank">Full Text</a>]
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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: <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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</p>
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</li>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Glueck1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Glueck, C. J., Glueck, H. I., Greenfield, D., Freiberg, R., Kahn, A., Hamer, T., Stroop, D., Tracy, T.
|
|
<strong>Protein C and S deficiency, thrombophilia, and hypofibrinolysis: pathophysiologic causes of Legg-Perthes disease.</strong>
|
|
Pediat. Res. 35: 383-388, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8047373/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8047373</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8047373" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Goff1962" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Goff, C. W.
|
|
<strong>Legg-Calve-Perthes syndrome (LCPS). An up-to-date critical review.</strong>
|
|
Clin. Orthop. 22: 93-107, 1962.
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|
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13899540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13899540</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13899540" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Gray1972" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Gray, I. M., Lowry, R. B., Renwick, D. H. G.
|
|
<strong>Incidence and genetics of Legg-Perthes disease (osteochondritis deformans) in British Columbia: evidence of polygenic determination.</strong>
|
|
J. Med. Genet. 9: 197-202, 1972.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5046630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5046630</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5046630" 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/10.1136/jmg.9.2.197" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Hall1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hall, D. J.
|
|
<strong>Genetic aspects of Perthes' disease: a critical review.</strong>
|
|
Clin. Orthop. Relat. Res. 209: 100-114, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3731583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3731583</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3731583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Harper1976" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Harper, P. S., Brotherton, J., Cochlin, D.
|
|
<strong>Genetic risks in Perthes' disease.</strong>
|
|
Clin. Genet. 10: 178-182, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/963906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">963906</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=963906" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1976.tb00030.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Liu1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Liu, S.-L., Ho, T.-C.
|
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<strong>The role of venous hypertension in the pathogenesis of Legg-Perthes disease: a clinical and experimental study.</strong>
|
|
J. Bone Joint Surg. Am. 73: 194-200, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1993714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1993714</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1993714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="McKusick1968" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McKusick, V. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 1968.
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="McNutt1962" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McNutt, W.
|
|
<strong>Inherited vascular pattern of the femoral head and neck as a predisposing factor to Legg-Calve-Perthes disease.</strong>
|
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Texas Rep. Biol. Med. 20: 525-531, 1962.
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Miyamoto2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Miyamoto, Y., Matsuda, T., Kitoh, H., Haga, N., Ohashi, H., Nishimura, G., Ikegawa, S.
|
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<strong>A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family.</strong>
|
|
Hum. Genet. 121: 625-629, 2007.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17394019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17394019</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17394019" 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/10.1007/s00439-007-0354-y" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Mont1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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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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[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://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'})">related citations</a>]
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[<a href="https://doi.org/10.2106/00004623-199503000-00018" target="_blank">Full Text</a>]
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</p>
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</li>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Nevelos1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Nevelos, A. B.
|
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<strong>Perthes' disease: the family tree.</strong>
|
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Clin. Orthop. 209: 13-22, 1986.
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</p>
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</div>
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</li>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Stephens1946" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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Stephens, F. E., Kerby, J. P.
|
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<strong>Hereditary Legg-Calve-Perthes disease.</strong>
|
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J. Hered. 37: 153-160, 1946.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20988421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20988421</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20988421" 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/oxfordjournals.jhered.a105605" target="_blank">Full Text</a>]
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</p>
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</li>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Wamoscher1963" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wamoscher, Z., Farhi, A.
|
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<strong>Hereditary Legg-Calve-Perthes disease.</strong>
|
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Am. J. Dis. Child. 106: 97-100, 1963.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13998760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13998760</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13998760" 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/10.1001/archpedi.1963.02080050099016" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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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="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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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 - updated : 6/13/2007
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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 - updated : 7/12/2004
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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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 : 6/2/1986
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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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 : 11/02/2022
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</span>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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 : 03/02/2017<br>carol : 03/02/2017<br>carol : 03/09/2015<br>mcolton : 3/4/2015<br>carol : 7/20/2011<br>terry : 1/13/2011<br>carol : 5/7/2010<br>carol : 5/5/2010<br>carol : 10/9/2008<br>carol : 6/15/2007<br>terry : 6/13/2007<br>ckniffin : 6/6/2007<br>alopez : 7/19/2004<br>terry : 7/12/2004<br>mimadm : 11/5/1994<br>davew : 7/13/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989
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</span>
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>#</strong> 150600
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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LEGG-CALVE-PERTHES DISEASE; LCPD
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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LCP<br />
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LEGG-PERTHES DISEASE<br />
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PERTHES DISEASE
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</span>
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</h4>
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</div>
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<div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 111255008;
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<strong>ICD10CM:</strong> M91.1;
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<strong>ORPHA:</strong> 2380;
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<strong>DO:</strong> 14415;
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</span>
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</p>
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<div>
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<br />
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<div>
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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 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>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
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<th>
|
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Gene/Locus
|
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</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
|
|
</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">
|
|
12q13.11
|
|
</span>
|
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</td>
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<td>
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<span class="mim-font">
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Legg-Calve-Perthes disease
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</td>
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<td>
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<span class="mim-font">
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150600
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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<span class="mim-font">
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COL2A1
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<span class="mim-font">
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120140
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Legg-Calve-Perthes disease (LCPD), a form of avascular necrosis of the femoral head (ANFH; see 608805) in growing children, is caused by heterozygous mutation in the COL2A1 (120140) on chromosome 12q13.</p>
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<strong>Description</strong>
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<p>Legg-Calve-Perthes disease (LCPD) is characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone. The disease occurs more frequently in boys, and most patients tend to be shorter than their peers. Both familial and isolated cases of LCPD have been reported (summary by Chen et al., 2004). </p>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<p>Wamoscher and Farhi (1963) described a Jewish family in which 8 members of 3 generations were affected. Boys predominate heavily in all reports of sporadic cases of the disease. In the families with multiple cases the sex ratio has been closer to 1. A similar phenomenon has been observed in ankylosing spondylitis (106300) and in congenital dislocation of the hip. When familial, the disorder may be more likely to show bilateral involvement. </p><p>McNutt (1962) suggested that a peculiarity in vascular supply of the femoral head and neck may be inherited as the factor predisposing to this disorder. Caffey (1968) was of the view that coxa plana, as he termed this condition, really represents at least in its initiation a stress fracture and not avascular necrosis. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</h4>
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<span class="mim-text-font">
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<p>Stephens and Kerby (1946) observed many affected persons in 5 generations. McKusick (1968) observed affected father and 2 sons, indicating autosomal dominant inheritance. </p><p>Gray et al. (1972) found evidence suggesting polygenic inheritance. </p><p>Harper et al. (1976) did a population study of Perthes disease in South Wales over a 25-year period. The risk to sibs was less than 1% (2 in 323), and the risk to offspring of an affected parent was about 3% (1 in 35). No increased risk was found in relatives of patients with bilateral rather than unilateral disease. </p><p>Hall (1986) combined family data from a series of 87 boys and 58 girls with Perthes disease with those of Gray et al. (1972). Proportions of first-, second-, and third-degree relatives affected in relation to the frequency in the general population showed a gradient of 35:4:4:1 consistent with multifactorial inheritance. She calculated a recurrence risk of 2.6% for sibs and offspring. </p>
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<h4>
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<span class="mim-font">
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<strong>Other Features</strong>
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<span class="mim-text-font">
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<p>Glueck et al. (1994) suggested that a tendency to thrombosis may predispose to Legg-Perthes disease. In 8 patients with this disorder, they found protein C deficiency (176860) in 3 and protein S deficiency (612336) in 1. Another 1 of the 8 patients had hypofibrinolysis. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Pathogenesis</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Avascular necrosis of the femoral head is a debilitating disease that usually leads to destruction of the hip joint in the third to fifth decade of life (Mont and Hungerford, 1995). Like Legg-Perthes disease, the common pathway of pathogenesis of ANFH is thought to involve the interruption of blood circulation to the femoral head, leading to ischemic insult and bone collapse. Legg-Perthes disease results in ANFH in a growing child. </p>
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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 class="mim-text-font">
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<p>In affected members of a Japanese family segregating Legg-Calve-Perthes disease, Miyamoto et al. (2007) identified a missense mutation in the COL2A1 gene (120140.0043). The same mutation had previously been identified in patients with ANFH. </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>History</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>Nevelos (1986) traced the nosography of Perthes disease. Although it had been described on clinical grounds, Perthes disease was not really fully recognized and distinguished from the very common bone and joint tuberculosis until after the discovery of x-rays in 1895.</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>Animal Model</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 dog models, when venous drainage of the surgical neck of the femur is obstructed, avascular necrosis resembling that of Legg-Perthes disease develops (Liu and Ho, 1991). </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>See Also:</strong>
|
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</span>
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</h4>
|
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<span class="mim-text-font">
|
|
Goff (1962)
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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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<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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Caffey, J. P.
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<strong>The early roentgenographic changes in essential coxa plana: their significance in pathogenesis.</strong>
|
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Am. J. Roentgen. Radium Ther. Nucl. Med. 103: 620-634, 1968.
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[PubMed: 5659978]
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[Full Text: https://doi.org/10.2214/ajr.103.3.620]
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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.
|
|
<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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Glueck, C. J., Glueck, H. I., Greenfield, D., Freiberg, R., Kahn, A., Hamer, T., Stroop, D., Tracy, T.
|
|
<strong>Protein C and S deficiency, thrombophilia, and hypofibrinolysis: pathophysiologic causes of Legg-Perthes disease.</strong>
|
|
Pediat. Res. 35: 383-388, 1994.
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[PubMed: 8047373]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Goff, C. W.
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<strong>Legg-Calve-Perthes syndrome (LCPS). An up-to-date critical review.</strong>
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Clin. Orthop. 22: 93-107, 1962.
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[PubMed: 13899540]
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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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Gray, I. M., Lowry, R. B., Renwick, D. H. G.
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<strong>Incidence and genetics of Legg-Perthes disease (osteochondritis deformans) in British Columbia: evidence of polygenic determination.</strong>
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J. Med. Genet. 9: 197-202, 1972.
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[PubMed: 5046630]
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[Full Text: https://doi.org/10.1136/jmg.9.2.197]
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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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Hall, D. J.
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<strong>Genetic aspects of Perthes' disease: a critical review.</strong>
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Clin. Orthop. Relat. Res. 209: 100-114, 1986.
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[PubMed: 3731583]
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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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Harper, P. S., Brotherton, J., Cochlin, D.
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<strong>Genetic risks in Perthes' disease.</strong>
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Clin. Genet. 10: 178-182, 1976.
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[PubMed: 963906]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1976.tb00030.x]
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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, S.-L., Ho, T.-C.
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<strong>The role of venous hypertension in the pathogenesis of Legg-Perthes disease: a clinical and experimental study.</strong>
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J. Bone Joint Surg. Am. 73: 194-200, 1991.
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[PubMed: 1993714]
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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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McKusick, V. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 1968.
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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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McNutt, W.
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<strong>Inherited vascular pattern of the femoral head and neck as a predisposing factor to Legg-Calve-Perthes disease.</strong>
|
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Texas Rep. Biol. Med. 20: 525-531, 1962.
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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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Miyamoto, Y., Matsuda, T., Kitoh, H., Haga, N., Ohashi, H., Nishimura, G., Ikegawa, S.
|
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<strong>A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family.</strong>
|
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Hum. Genet. 121: 625-629, 2007.
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[PubMed: 17394019]
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[Full Text: https://doi.org/10.1007/s00439-007-0354-y]
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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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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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[PubMed: 7890797]
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[Full Text: https://doi.org/10.2106/00004623-199503000-00018]
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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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|
Nevelos, A. B.
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<strong>Perthes' disease: the family tree.</strong>
|
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Clin. Orthop. 209: 13-22, 1986.
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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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Stephens, F. E., Kerby, J. P.
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<strong>Hereditary Legg-Calve-Perthes disease.</strong>
|
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J. Hered. 37: 153-160, 1946.
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[PubMed: 20988421]
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[Full Text: https://doi.org/10.1093/oxfordjournals.jhered.a105605]
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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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Wamoscher, Z., Farhi, A.
|
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<strong>Hereditary Legg-Calve-Perthes disease.</strong>
|
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Am. J. Dis. Child. 106: 97-100, 1963.
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[PubMed: 13998760]
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[Full Text: https://doi.org/10.1001/archpedi.1963.02080050099016]
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</p>
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</li>
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</ol>
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<div>
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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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 - updated : 6/13/2007<br>Victor A. McKusick - updated : 7/12/2004
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<span class="text-nowrap mim-text-font">
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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 : 6/2/1986
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<span class="text-nowrap mim-text-font">
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Edit History:
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<span class="mim-text-font">
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carol : 11/02/2022<br>carol : 03/02/2017<br>carol : 03/02/2017<br>carol : 03/09/2015<br>mcolton : 3/4/2015<br>carol : 7/20/2011<br>terry : 1/13/2011<br>carol : 5/7/2010<br>carol : 5/5/2010<br>carol : 10/9/2008<br>carol : 6/15/2007<br>terry : 6/13/2007<br>ckniffin : 6/6/2007<br>alopez : 7/19/2004<br>terry : 7/12/2004<br>mimadm : 11/5/1994<br>davew : 7/13/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989
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