3571 lines
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Entry
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- #166600 - OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2
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- OMIM
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<p>
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<span class="h4">#166600</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/166600"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS607634"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=OSTEOPETROSIS, AUTOSOMAL DOMINANT" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=255&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1127/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/5476" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=166600[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=53" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/b594b70c-5fb6-4599-b910-5dec399b755d/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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</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="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</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:0110938" 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/166600" 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/OMIA001887/" 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><a href="https://wormbase.org/resources/disease/DOID:0110938" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</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>
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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> 725050005<br />
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<strong>ORPHA:</strong> 53<br />
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<strong>DO:</strong> 0110938<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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166600
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE II<br />
|
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MARBLE BONES, AUTOSOMAL DOMINANT<br />
|
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OSTEOSCLEROSIS FRAGILIS GENERALISATA<br />
|
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ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/16/64?start=-3&limit=10&highlight=64">
|
|
16p13.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Osteopetrosis, autosomal dominant 2
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/166600"> 166600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
CLCN7
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602727"> 602727 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
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</tbody>
|
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</table>
|
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</div>
|
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</div>
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<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/166600" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
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|
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|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS607634" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
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|
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|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/166600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/166600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
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|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Facial nerve palsy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/280816001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">280816001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193093009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193093009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G51.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G51.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/351.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">351.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0376175&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0376175</a>, <a href="https://bioportal.bioontology.org/search?q=C0015469&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015469</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007209</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0010628" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010628</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010628" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010628</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Vision loss, severe, beginning in childhood (12 of 62 patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750336</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7973008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7973008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397540003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397540003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H54.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H54.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/369.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">369.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000572" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000572</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Osteosclerosis, diffuse symmetrical <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843331&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843331</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005789" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005789</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005789" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005789</a>]</span><br /> -
|
|
Increased long bone fracture rate (75% of patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240231&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240231</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003084</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003084</a>]</span><br /> -
|
|
Multiple fractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/788192009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">788192009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771485007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771485007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5468008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5468008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016655&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016655</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002757" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002757</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002757" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002757</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skull </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pronounced skull base sclerosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833703&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833703</a>]</span><br /> -
|
|
Mandibular osteomyelitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109695005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109695005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1290708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1290708</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007626" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007626</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007626" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007626</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 'Rugger-Jersey' spine (vertebral endplate thickening) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833705&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833705</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pelvis </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Endobones (bone within bone) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833706</a>]</span><br /> -
|
|
Hip osteoarthritis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/239872002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">239872002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M16.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M16.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M16" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M16</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029410&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029410</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008843" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008843</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008843" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008843</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Facial palsy due to cranial nerve VII compression <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833701&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833701</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/280816001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">280816001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193093009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193093009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G51.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G51.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/351.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">351.0</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010628" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010628</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> HEMATOLOGY </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Bone marrow failure (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/127034005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">127034005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/167928002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">167928002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D61.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D61.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/284.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">284.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855710&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855710</a>, <a href="https://bioportal.bioontology.org/search?q=C0030312&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030312</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001876" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001876</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0005528" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005528</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005528" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005528</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Elevated serum acid phosphatase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839866&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839866</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003148" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003148</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003148" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003148</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset in childhood<br /> -
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Progressive sclerosis with age<br /> -
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20-40% patients are asymptomatic<br /> -
|
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Genetic heterogeneity (see <a href="/entry/607634">607634</a>) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br /> -
|
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See recessive form OPTB4 (<a href="/entry/611490">611490</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the chloride channel 7 gene (CLCN7, <a href="/entry/602727#0004">602727.0004</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Osteopetrosis, autosomal dominant
|
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- <a href="/phenotypicSeries/PS607634">PS607634</a>
|
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- 3 Entries
|
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Location</strong>
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</th>
|
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
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<strong>Phenotype</strong>
|
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Inheritance</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Phenotype<br />mapping key</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
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|
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<tr>
|
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<td>
|
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<span class="mim-font">
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<a href="/geneMap/11/683?start=-3&limit=10&highlight=683"> 11q13.2 </a>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/607634"> Osteopetrosis, autosomal dominant 1 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607634"> 607634 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603506"> LRP5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603506"> 603506 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
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<span class="mim-font">
|
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|
|
<a href="/geneMap/16/64?start=-3&limit=10&highlight=64"> 16p13.3 </a>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/166600"> Osteopetrosis, autosomal dominant 2 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<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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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/166600"> 166600 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602727"> CLCN7 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/602727"> 602727 </a>
|
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</span>
|
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</td>
|
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</tr>
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|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/660?start=-3&limit=10&highlight=660"> 17q21.31 </a>
|
|
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618107"> Osteopetrosis, autosomal dominant 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618107"> 618107 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611466"> PLEKHM1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611466"> 611466 </a>
|
|
</span>
|
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</td>
|
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</tr>
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|
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</tbody>
|
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</table>
|
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</div>
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|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
|
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</div>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
|
<a id="text" class="mim-anchor"></a>
|
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|
|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
|
|
<span class="mim-font">
|
|
<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.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</span>
|
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</h4>
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<div id="mimTextFold" class="collapse in ">
|
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<span class="mim-text-font">
|
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant osteopetrosis-2 (OPTA2) is caused by heterozygous mutation in the CLCN7 gene (<a href="/entry/602727">602727</a>) on chromosome 16p13.</p><p>An autosomal recessive form of osteopetrosis (OPTA4; <a href="/entry/611490">611490</a>) is also caused by mutation in the CLCN7 gene.</p>
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</span>
|
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<div>
|
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<br />
|
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</div>
|
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</div>
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<div>
|
|
<a id="description" class="mim-anchor"></a>
|
|
<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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</span>
|
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</h4>
|
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
|
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<p>Autosomal dominant osteopetrosis-2 (OPTA2) is characterized by segmentary osteosclerosis, predominantly at the vertebral endplates ('rugger-jersey spine'), iliac wings ('bone within bone' sign), and skull base. Clinical manifestations include cranial nerve palsies, mandibular osteomyelitis, osteoarthritis of the hip, and nontraumatic fractures, particularly of the long bones (<a href="#6" class="mim-tip-reference" title="Cleiren, E., Benichou, O., Van Hul, E., Gram, J., Bollerslev, J., Singer, F. R., Beaverson, K., Aledo, A., Whyte, M. P., Yoneyama, T., deVernejoul, M.-C., Van Hul, W. <strong>Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.</strong> Hum. Molec. Genet. 10: 2861-2867, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11741829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11741829</a>] [<a href="https://doi.org/10.1093/hmg/10.25.2861" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11741829">Cleiren et al., 2001</a>). OPTA2 accounts for 70% of cases of autosomal dominant osteopetrosis (<a href="#7" class="mim-tip-reference" title="Del Fattore, A., Fornari, R., Van Wesenbeeck, L., de Freitas, F., Timmermans, J.-P., Peruzzi, B., Cappariello, A., Rucci, N., Spera, G., Helfrich, M. H., Van Hul, W., Migliaccio, S., Teti, A. <strong>A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with Run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts.</strong> J. Bone Miner. Res. 23: 380-391, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17997709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17997709</a>] [<a href="https://doi.org/10.1359/jbmr.071107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17997709">Del Fattore et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17997709+11741829" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of autosomal dominant osteopetrosis, see OPTA1 (<a href="/entry/607634">607634</a>).</p>
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</span>
|
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="clinicalFeatures" class="mim-anchor"></a>
|
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Clinical Features</strong>
|
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</span>
|
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</h4>
|
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</div>
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<p><a href="#15" class="mim-tip-reference" title="Salzano, F. M. <strong>Osteopetrosis: review of dominant cases and frequency in a Brazilian state.</strong> Acta Genet. Med. Gemellol. 10: 353-358, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14496532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14496532</a>] [<a href="https://doi.org/10.1017/s1120962300016954" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14496532">Salzano (1961)</a> reviewed dominant cases of osteopetrosis and found that fragility of bones and dental abscess are leading complications. A more malignant form, inherited as a recessive (see OPTB1, <a href="/entry/259700">259700</a>), causes anemia and early death from interference with the bone marrow. <a href="#22" class="mim-tip-reference" title="Welford, N. T. <strong>Facial paralysis associated with osteopetrosis (marble bones).</strong> J. Pediat. 55: 67-72, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13665485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13665485</a>] [<a href="https://doi.org/10.1016/s0022-3476(59)80173-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13665485">Welford (1959)</a> described 14 affected male members of 5 generations of a family. All affected persons had facial paralysis beginning usually at about the age of 12 years. Main clinical features are fractures and osteomyelitis, especially of the mandible. By x-ray the vertebral bodies have a characteristic 'sandwich' appearance resulting from sclerosis of the upper and lower plates with intervening less dense area. Long bones of the extremities may show a 'bone-within-bone' appearance. Osteosclerosis, sometimes termed osteopetrosis, is a feature of pycnodysostosis (<a href="/entry/265800">265800</a>). Follow-up on the family reported by <a href="#8" class="mim-tip-reference" title="Ghormley, R. K. <strong>A case of congenital osteosclerosis.</strong> Bull. Johns Hopkins Hosp. 33: 444-446, 1922."None>Ghormley (1922)</a> was provided by <a href="#14" class="mim-tip-reference" title="McKusick, V. A. <strong>Medical genetics 1960.</strong> J. Chronic Dis. 14: 417-572, 1961. Fig. 67."None>McKusick (1961)</a>. <a href="#11" class="mim-tip-reference" title="Johnston, C. C., Jr., Lavy, N., Lord, T., Vellios, F., Merritt, A. D., Deiss, W. P., Jr. <strong>Osteopetrosis: a clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form.</strong> Medicine 47: 149-167, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4871758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4871758</a>]" pmid="4871758">Johnston et al. (1968)</a> studied 2 families. In one pedigree, the disorder was twice nonpenetrant. Elevated acid phosphatase was a feature in all but one of the affected persons. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4871758+13665485+14496532" 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="#1" class="mim-tip-reference" title="Andersen, P. E., Jr., Bollerslev, J. <strong>Heterogeneity of autosomal dominant osteopetrosis.</strong> Radiology 164: 223-225, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3588909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3588909</a>] [<a href="https://doi.org/10.1148/radiology.164.1.3588909" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3588909">Andersen and Bollerslev (1987)</a> suggested that autosomal dominant osteopetrosis has 2 distinct radiologic types. Both have universal osteosclerosis, but in type I, the most striking finding is pronounced sclerosis of the cranial vault while the spine is almost unaffected; in type II, the sclerosis of the skull is most pronounced at the base, the vertebrae always have endplate thickening, and in the pelvis, the iliac wings contain convex arcs of sclerotic bone. Age and sex distribution did not differ between the types and each 'bred true' within given families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3588909" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By review of radiographs of 34 patients with autosomal dominant osteopetrosis, <a href="#4" class="mim-tip-reference" title="Bollerslev, J., Andersen, P. E., Jr. <strong>Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis.</strong> Bone 9: 7-13, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3377922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3377922</a>] [<a href="https://doi.org/10.1016/8756-3282(88)90021-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3377922">Bollerslev and Andersen (1988)</a> defined 2 distinct types. Type I showed pronounced sclerosis of the skull with an enlarged thickness of the cranial wall. Sclerosis of the skull in type II was most striking at the base. In type II, there was a typical 'rugger-jersey spine,' and endobones (bones within a bone) were seen in the pelvis. Radiographic studies of the long bones did not show any difference between the 2 types. Compared to normal controls, there was a normal total subperiosteal width, but a significantly increased cortical thickness, and thus a reduced medullary cavity, suggesting normal bone formation and disturbed bone resorption. <a href="#4" class="mim-tip-reference" title="Bollerslev, J., Andersen, P. E., Jr. <strong>Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis.</strong> Bone 9: 7-13, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3377922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3377922</a>] [<a href="https://doi.org/10.1016/8756-3282(88)90021-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3377922">Bollerslev and Andersen (1988)</a> found that serum phosphate was lower in type I compared to type II (P less than 0.01), and serum acid phosphatase was markedly increased in type II (P less than 0.01), suggesting differences between the 2 types in bone mineral metabolism and structural function of the osteoclasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3377922" 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="#21" class="mim-tip-reference" title="Walpole, I. R., Nicoll, A., Goldblatt, J. <strong>Autosomal dominant osteopetrosis type II with 'malignant' presentation: further support for heterogeneity?</strong> Clin. Genet. 38: 257-263, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2268972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2268972</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1990.tb03578.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2268972">Walpole et al. (1990)</a> described a large Australian family known to have 13 cases of osteopetrosis in 4 generations. The phenotypic spectrum varied from an asymptomatic condition in adults to a severely affected infant in the most recent generation who presented with anemia, hepatosplenomegaly, hydrocephalus, and blindness. Although the wide spectrum of severity in osteopetrosis is well known, they found only 1 report of the severe infantile form occurring in a dominant pedigree with mainly mild adult cases (<a href="#16" class="mim-tip-reference" title="Thomson, J. <strong>Osteopetrosis in successive generations.</strong> Arch. Dis. Child. 24: 143-148, 1949.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18131787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18131787</a>] [<a href="https://doi.org/10.1136/adc.24.118.143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18131787">Thomson, 1949</a>). It is possible that the mother of the severely affected proband had osteopetrosis or that the father was heterozygous for the infantile form, making the proband a compound heterozygote. The possibility of an extramarital mating with another osteopetrotic individual was considered unlikely, but paternity was not checked with markers. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18131787+2268972" 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="Bollerslev, J., Mosekilde, L. <strong>Autosomal dominant osteopetrosis.</strong> Clin. Orthop. Relat. Res. 294: 45-51, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8358946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8358946</a>]" pmid="8358946">Bollerslev and Mosekilde (1993)</a> found that bone resorption appears to be defective and bone formation normal in both types of patients. The frequency of fractures is increased in type II patients and normal in type I patients, in whom biomechanical investigations have shown normal or even increased trabecular bone strength. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8358946" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Benichou, O. D., Laredo, J. D., De Vernejoul, M. C. <strong>Type II autosomal dominant osteopetrosis (Albers-Schonberg disease): clinical and radiological manifestations in 42 patients.</strong> Bone 26: 87-93, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10617161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10617161</a>] [<a href="https://doi.org/10.1016/s8756-3282(99)00244-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10617161">Benichou et al. (2000)</a> reported the clinical and radiologic manifestations in 42 patients with autosomal dominant osteopetrosis, purportedly the largest series reported to that time. The inclusion criterion was presence on radiographs of the spine of vertebral endplate thickening, producing the classic sandwich vertebra appearance. They found various patterns of sandwich vertebra. The classic bone-within-bone appearance was present in most but not all skeletal sites. The radiologic penetrance of the disease was high (90%) and increased after 20 years of age. As many as 81% of their patients experienced clinical manifestations. Fractures were common (78% of patients) and healed slowly. Hip osteoarthritis developed in 27% of patients and required arthroplasty in 9 of the 16 affected hips. Nonmandibular osteomyelitis occurred in 4 cases (11%); 24% of patients had thoracic or lumbar scoliosis. Orthopedic surgery was performed in 52.8% of patients, of whom half had at least 3 surgical procedures for internal fracture fixation, arthroplasty, limb deformity correction, or treatment of surgical complications. There was a high rate of surgical complications, including nonunion, infection, prosthesis loosening, and intraoperative fractures. Nearly two-thirds of patients (64%) had stomatologic manifestations, including mandibular osteomyelitis in 4 patients (11%). Cranial nerve involvement responsible for hearing loss, bilateral optic atrophy, and/or facial palsy was present in 14 patients but was clearly attributable to the osteopetrosis in only 6 cases (16%). <a href="#3" class="mim-tip-reference" title="Benichou, O. D., Laredo, J. D., De Vernejoul, M. C. <strong>Type II autosomal dominant osteopetrosis (Albers-Schonberg disease): clinical and radiological manifestations in 42 patients.</strong> Bone 26: 87-93, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10617161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10617161</a>] [<a href="https://doi.org/10.1016/s8756-3282(99)00244-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10617161">Benichou et al. (2000)</a> suggested that the name 'benign osteopetrosis' is a misnomer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10617161" 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="#19" class="mim-tip-reference" title="Waguespack, S. G., Hui, S. L., DiMeglio, L. A., Econs, M. J. <strong>Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation.</strong> J. Clin. Endocr. Metab. 92: 771-778, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17164308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17164308</a>] [<a href="https://doi.org/10.1210/jc.2006-1986" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17164308">Waguespack et al. (2007)</a> studied 311 subjects from 11 families segregating autosomal dominant osteopetrosis caused by mutation in the CLCN7 gene: 62 individuals with OPTA2, 32 unaffected mutation carriers, and 217 controls. Ninety-two percent of OPTA2 patients had at least one sequela of the disease. Gene carriers did not have an increased risk of disease manifestations, but were found to have significant increases in bone mineral density (p less than 0.05). Compared with controls, patients had a significantly increased prevalence of fracture (84 vs 36%; p less than 0.0001) and osteomyelitis (16 vs 0.9%; p less than 0.0001). Severe fractures (defined as greater than 10 fractures of any type and/or greater than 1 hip/femur fracture) were identified only in patients, and osteomyelitis typically occurred in the maxilla or mandible in older adults. Severe vision loss occurred in 12 (19%) of 62 patients, and in 11 of the 12 cases, the onset was clearly in childhood. Two patients (3%) had significant bone marrow failure, requiring hematologic supportive care. <a href="#19" class="mim-tip-reference" title="Waguespack, S. G., Hui, S. L., DiMeglio, L. A., Econs, M. J. <strong>Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation.</strong> J. Clin. Endocr. Metab. 92: 771-778, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17164308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17164308</a>] [<a href="https://doi.org/10.1210/jc.2006-1986" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17164308">Waguespack et al. (2007)</a> concluded that OPTA2 is a frequently symptomatic disease manifested by a high rate of fracture, osteomyelitis, visual loss, as well as occasional bone marrow failure. Sequelae of OPTA2, which can be identified as early as infancy, appear to worsen over time. Fracture is the most prevalent consequence of OPTA2, although other more severe manifestations of disease can occur and should not be confused with recessive forms of osteopetrosis, particularly when identified in early childhood. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17164308" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of OPTA2 in the families reported by <a href="#6" class="mim-tip-reference" title="Cleiren, E., Benichou, O., Van Hul, E., Gram, J., Bollerslev, J., Singer, F. R., Beaverson, K., Aledo, A., Whyte, M. P., Yoneyama, T., deVernejoul, M.-C., Van Hul, W. <strong>Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.</strong> Hum. Molec. Genet. 10: 2861-2867, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11741829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11741829</a>] [<a href="https://doi.org/10.1093/hmg/10.25.2861" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11741829">Cleiren et al. (2001)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11741829" 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="#25" class="mim-tip-reference" title="Yoneyama, T., Fowler, H. L., Pendleton, J. W., Sforza, P. P., Lui, C. Y., Iranmanesh, A., Gerard, R. D. <strong>Elevated levels of creatine kinase BB isoenzyme in three patients with adult osteopetrosis. (Letter)</strong> New Eng. J. Med. 320: 1284-1285, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2710212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2710212</a>] [<a href="https://doi.org/10.1056/nejm198905113201920" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2710212">Yoneyama et al. (1989)</a> found elevated creatine kinase of the so-called BB type (CKB; <a href="/entry/123280">123280</a>) in 3 adults with osteopetrosis. <a href="#24" class="mim-tip-reference" title="Yoneyama, T., Fowler, H. L., Pendleton, J. W., Sforza, P. P., Gerard, R. D., Lui, C. Y., Eldridge, T. H., Iranmanesh, A. <strong>Elevated serum levels of creatine kinase BB in autosomal dominant osteopetrosis type II--a family study.</strong> Clin. Genet. 42: 39-42, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1516225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1516225</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03134.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1516225">Yoneyama et al. (1992)</a> demonstrated marked elevation of BB isozyme fraction of serum creatine kinase for male sibs with this disorder. Patients with other sclerosing bone diseases showed no such elevation. <a href="#9" class="mim-tip-reference" title="Hiroyama, Y., Miike, T., Sugino, S., Taku, K. <strong>Creatine kinase brain isoenzyme in infantile osteopetrosis.</strong> Pediat. Neurol. 3: 54-57, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3508049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3508049</a>] [<a href="https://doi.org/10.1016/0887-8994(87)90057-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3508049">Hiroyama et al. (1987)</a> found the brain isozyme to be elevated in infantile osteopetrosis (see OPTB1, <a href="/entry/259700">259700</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3508049+2710212+1516225" 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>Individuals with autosomal dominant osteoporosis type II (OPTA2) have elevated serum levels of tartrate-resistant acid phosphatase (TRAP; <a href="/entry/171640">171640</a>) and the BB isoenzyme of creatine kinase (CKBB). <a href="#20" class="mim-tip-reference" title="Waguespack, S. G., Hui, S. L., White, K. E., Buckwalter, K. A., Econs, M. J. <strong>Measurement of tartrate-resistant acid phosphatase and the brain isoenzyme of creatine kinase accurately diagnoses type II autosomal dominant osteopetrosis but does not identify gene carriers.</strong> J. Clin. Endocr. Metab. 87: 2212-2217, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11994366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11994366</a>] [<a href="https://doi.org/10.1210/jcem.87.5.8497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11994366">Waguespack et al. (2002)</a> tested the utility of these enzymes in making or refuting a diagnosis of OPTA2. Furthermore, because OPTA2 has incomplete penetrance, they examined whether TRAP and CKBB were helpful in identifying gene carriers. They studied 8 families, measured serum levels of TRAP and CKBB in 52 affected individuals and 12 obligate gene carriers, and compared their values with those of age-matched controls. Their results demonstrated that affected patients have significantly elevated levels of both TRAP and CKBB. In contrast, gene carriers have values that are not different from those of controls. Furthermore, in their study population, TRAP and CKBB had a high diagnostic sensitivity and specificity, particularly in children. <a href="#20" class="mim-tip-reference" title="Waguespack, S. G., Hui, S. L., White, K. E., Buckwalter, K. A., Econs, M. J. <strong>Measurement of tartrate-resistant acid phosphatase and the brain isoenzyme of creatine kinase accurately diagnoses type II autosomal dominant osteopetrosis but does not identify gene carriers.</strong> J. Clin. Endocr. Metab. 87: 2212-2217, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11994366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11994366</a>] [<a href="https://doi.org/10.1210/jcem.87.5.8497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11994366">Waguespack et al. (2002)</a> concluded that (1) TRAP and CKBB are significantly elevated in patients with OPTA2; (2) obligate carriers cannot be adequately identified by measurement of these analyses; and (3) measurements of TRAP and CKBB are highly sensitive and specific diagnostic tests that can efficiently and effectively screen high-risk individuals who have not had previous radiographic assessment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11994366" 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="#12" class="mim-tip-reference" title="Key, L., Carnes, D., Cole, S., Holtrop, M., Bar-Shavit, Z., Shapiro, F., Arceci, R., Steinberg, J., Gundberg, C., Kahn, A., Teitelbaum, S., Anast, C. <strong>Treatment of congenital osteopetrosis with high-dose calcitriol.</strong> New Eng. J. Med. 310: 409-415, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6546410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6546410</a>] [<a href="https://doi.org/10.1056/NEJM198402163100701" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6546410">Key et al. (1984)</a> demonstrated benefit from the potent bone-resorbing agent calcitriol, which is a metabolite of vitamin D. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6546410" 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="#15" class="mim-tip-reference" title="Salzano, F. M. <strong>Osteopetrosis: review of dominant cases and frequency in a Brazilian state.</strong> Acta Genet. Med. Gemellol. 10: 353-358, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14496532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14496532</a>] [<a href="https://doi.org/10.1017/s1120962300016954" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14496532">Salzano (1961)</a> estimated the frequency of the dominant form of osteopetrosis in Brazil to be about 1 in 100,000. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14496532" 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="Cleiren, E., Benichou, O., Van Hul, E., Gram, J., Bollerslev, J., Singer, F. R., Beaverson, K., Aledo, A., Whyte, M. P., Yoneyama, T., deVernejoul, M.-C., Van Hul, W. <strong>Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.</strong> Hum. Molec. Genet. 10: 2861-2867, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11741829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11741829</a>] [<a href="https://doi.org/10.1093/hmg/10.25.2861" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11741829">Cleiren et al. (2001)</a> stated that the OPTA2 is the most common form of osteopetrosis, with a prevalence of up to 5.5 cases per 100,000 individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11741829" 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 an extended Danish family with the type II disorder, <a href="#18" class="mim-tip-reference" title="Van Hul, W., Van Hul, E., Wuyts, W., Bollerslev, J., Gram, J., Benichou, O., Willems, P. J. <strong>The Albers-Schonberg disease (autosomal dominant osteopetrosis) gene is located on chromosome 1p21 in a region containing the macrophage colony stimulating factor (CSF-1) gene. (Abstract)</strong> Medizinische Genetik 9: 8 only, 1997."None>Van Hul et al. (1997)</a> found presumed linkage to microsatellite markers in the 1p21 region. The chromosomal region was analyzed for possible linkage between Albers-Schonberg disease and the gene for macrophage colony-stimulating factor (CSF1; <a href="/entry/120420">120420</a>), a hematopoietic growth factor that plays an important role in the proliferation of macrophages and osteoclasts from hematopoietic stem cells. Refined mapping appeared to exclude CSF1 as the site of the mutation in their family.</p><p><a href="#23" class="mim-tip-reference" title="White, K. E., Koller, D. L., Takacs, I., Buckwalter, K. A., Foroud, T., Econs, M. J. <strong>Locus heterogeneity of autosomal dominant osteopetrosis (ADO).</strong> J. Clin. Endocr. Metab. 84: 1047-1051, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10084593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10084593</a>] [<a href="https://doi.org/10.1210/jcem.84.3.5578" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10084593">White et al. (1999)</a> studied 2 families from Indiana with osteopetrosis type II to determine if the disease locus in these families was also linked to chromosome 1p21. They used 6 microsatellite repeat markers which demonstrated linkage to the CSF1 region in the Danish study to perform linkage analysis in the new kindreds. Multipoint analysis excluded linkage of the disease to chromosome 1p21 in both families. In addition, no haplotype segregated with the disorder in either family. The authors concluded that there is locus heterogeneity for osteopetrosis type II. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10084593" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Benichou, O., Cleiren, E., Gram, J., Bollerslev, J., de Vernejoul, M.-C., Van Hul, W. <strong>Mapping of autosomal dominant osteopetrosis type II (Albers-Schonberg disease) to chromosome 16p13.3.</strong> Am. J. Hum. Genet. 69: 647-654, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11468688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11468688</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11468688[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/10.1086/323132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11468688">Benichou et al. (2001)</a> performed a genomewide linkage scan of an extended French family with autosomal dominant osteopetrosis type II, which allowed them to localize the disease locus to chromosome 16p13.3. Analysis of microsatellite markers in 5 further families could not exclude this chromosome region. A summed maximum lod score of 12.70 was generated with marker D16S3027, at a recombination fraction of 0.0. On the basis of the key recombinants in the families, a candidate region of 8.4 cM was delineated, flanked by marker D16S521 distally and D16S423 proximally. Surprisingly, one of the families analyzed by <a href="#2" class="mim-tip-reference" title="Benichou, O., Cleiren, E., Gram, J., Bollerslev, J., de Vernejoul, M.-C., Van Hul, W. <strong>Mapping of autosomal dominant osteopetrosis type II (Albers-Schonberg disease) to chromosome 16p13.3.</strong> Am. J. Hum. Genet. 69: 647-654, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11468688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11468688</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11468688[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/10.1086/323132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11468688">Benichou et al. (2001)</a> was the Danish family in which <a href="#18" class="mim-tip-reference" title="Van Hul, W., Van Hul, E., Wuyts, W., Bollerslev, J., Gram, J., Benichou, O., Willems, P. J. <strong>The Albers-Schonberg disease (autosomal dominant osteopetrosis) gene is located on chromosome 1p21 in a region containing the macrophage colony stimulating factor (CSF-1) gene. (Abstract)</strong> Medizinische Genetik 9: 8 only, 1997."None>van Hul et al. (1997)</a> found presumed linkage to 1p21. In that family, linkage to 16p13.3 could not be excluded, since a maximum lod score of 4.21 at theta = 0.0 was generated with marker D16S3027. Because no other family with type II osteopetrosis had been proved to have linkage to 1p21, <a href="#2" class="mim-tip-reference" title="Benichou, O., Cleiren, E., Gram, J., Bollerslev, J., de Vernejoul, M.-C., Van Hul, W. <strong>Mapping of autosomal dominant osteopetrosis type II (Albers-Schonberg disease) to chromosome 16p13.3.</strong> Am. J. Hum. Genet. 69: 647-654, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11468688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11468688</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11468688[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/10.1086/323132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11468688">Benichou et al. (2001)</a> considered it most likely that the disease-causing gene was located in this family at 16p13.3. The possibility that type II is genetically homogeneous with a single gene on 16p13.3 was raised. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11468688" 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 individuals from 12 unrelated families with autosomal dominant osteopetrosis, including the Danish family initially linked to chromosome 1p21 by <a href="#18" class="mim-tip-reference" title="Van Hul, W., Van Hul, E., Wuyts, W., Bollerslev, J., Gram, J., Benichou, O., Willems, P. J. <strong>The Albers-Schonberg disease (autosomal dominant osteopetrosis) gene is located on chromosome 1p21 in a region containing the macrophage colony stimulating factor (CSF-1) gene. (Abstract)</strong> Medizinische Genetik 9: 8 only, 1997."None>Van Hul et al. (1997)</a> and 8 families previously studied by <a href="#17" class="mim-tip-reference" title="Van Gaal, L., De Leeuw, I., Abs, R. <strong>Familiale benigne osteopetrose.</strong> Tijdschr Geneeskunde 24: 1597-1604, 1978."None>Van Gaal et al. (1978)</a>, <a href="#13" class="mim-tip-reference" title="Manzke, E., Gruber, H. E., Hiness, R. W., Baylink, D. J. <strong>Skeletal remodelling and bone related hormones in two adults with increased bone mass.</strong> Metabolism 31: 25-32, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7078404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7078404</a>]" pmid="7078404">Manzke et al. (1982)</a>, and <a href="#2" class="mim-tip-reference" title="Benichou, O., Cleiren, E., Gram, J., Bollerslev, J., de Vernejoul, M.-C., Van Hul, W. <strong>Mapping of autosomal dominant osteopetrosis type II (Albers-Schonberg disease) to chromosome 16p13.3.</strong> Am. J. Hum. Genet. 69: 647-654, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11468688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11468688</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11468688[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/10.1086/323132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11468688">Benichou et al. (2001)</a>, <a href="#6" class="mim-tip-reference" title="Cleiren, E., Benichou, O., Van Hul, E., Gram, J., Bollerslev, J., Singer, F. R., Beaverson, K., Aledo, A., Whyte, M. P., Yoneyama, T., deVernejoul, M.-C., Van Hul, W. <strong>Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.</strong> Hum. Molec. Genet. 10: 2861-2867, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11741829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11741829</a>] [<a href="https://doi.org/10.1093/hmg/10.25.2861" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11741829">Cleiren et al. (2001)</a> identified heterozygosity for 7 different mutations in the CLCN7 gene (see, e.g., <a href="/entry/602727#0004">602727.0004</a> and <a href="/entry/602727#0005">602727.0005</a>). Analysis of microsatellite markers indicated that the mutations arose independently in each family. Additionally, <a href="#6" class="mim-tip-reference" title="Cleiren, E., Benichou, O., Van Hul, E., Gram, J., Bollerslev, J., Singer, F. R., Beaverson, K., Aledo, A., Whyte, M. P., Yoneyama, T., deVernejoul, M.-C., Van Hul, W. <strong>Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.</strong> Hum. Molec. Genet. 10: 2861-2867, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11741829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11741829</a>] [<a href="https://doi.org/10.1093/hmg/10.25.2861" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11741829">Cleiren et al. (2001)</a> identified 1 patient with the severe autosomal recessive infantile form of osteopetrosis (OPTB4) who was homozygous for a CLCN7 missense mutation (L766P; <a href="/entry/602727#0003">602727.0003</a>), for which her asymptomatic parents were heterozygous. The authors concluded that type II autosomal dominant osteopetrosis is allelic to a subset of autosomal recessive osteopetrosis cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11468688+7078404+11741829" 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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Radiology 164: 223-225, 1987.
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[<a href="https://doi.org/10.1086/323132" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s8756-3282(99)00244-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/8756-3282(88)90021-x" target="_blank">Full Text</a>]
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<strong>Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.</strong>
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[<a href="https://doi.org/10.1093/hmg/10.25.2861" target="_blank">Full Text</a>]
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<strong>A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with Run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts.</strong>
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[<a href="https://doi.org/10.1359/jbmr.071107" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0887-8994(87)90057-9" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2268972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2268972</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2268972" 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.1399-0004.1990.tb03578.x" target="_blank">Full Text</a>]
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<a id="22" class="mim-anchor"></a>
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<a id="Welford1959" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Welford, N. T.
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<strong>Facial paralysis associated with osteopetrosis (marble bones).</strong>
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J. Pediat. 55: 67-72, 1959.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13665485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13665485</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13665485" 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/10.1016/s0022-3476(59)80173-6" target="_blank">Full Text</a>]
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<a id="23" class="mim-anchor"></a>
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<a id="White1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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White, K. E., Koller, D. L., Takacs, I., Buckwalter, K. A., Foroud, T., Econs, M. J.
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<strong>Locus heterogeneity of autosomal dominant osteopetrosis (ADO).</strong>
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J. Clin. Endocr. Metab. 84: 1047-1051, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10084593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10084593</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10084593" 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/10.1210/jcem.84.3.5578" target="_blank">Full Text</a>]
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<a id="24" class="mim-anchor"></a>
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<a id="Yoneyama1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yoneyama, T., Fowler, H. L., Pendleton, J. W., Sforza, P. P., Gerard, R. D., Lui, C. Y., Eldridge, T. H., Iranmanesh, A.
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<strong>Elevated serum levels of creatine kinase BB in autosomal dominant osteopetrosis type II--a family study.</strong>
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Clin. Genet. 42: 39-42, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1516225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1516225</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1516225" 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.1399-0004.1992.tb03134.x" target="_blank">Full Text</a>]
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<a id="25" class="mim-anchor"></a>
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<a id="Yoneyama1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yoneyama, T., Fowler, H. L., Pendleton, J. W., Sforza, P. P., Lui, C. Y., Iranmanesh, A., Gerard, R. D.
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<strong>Elevated levels of creatine kinase BB isoenzyme in three patients with adult osteopetrosis. (Letter)</strong>
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New Eng. J. Med. 320: 1284-1285, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2710212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2710212</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2710212" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/nejm198905113201920" target="_blank">Full Text</a>]
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</ol>
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<br />
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 09/04/2018
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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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John A. Phillips, III - updated : 3/20/2008<br>Marla J. F. O'Neill - updated : 10/3/2007<br>Victor A. McKusick - updated : 3/10/2003<br>George E. Tiller - updated : 10/16/2002<br>John A. Phillips, III - updated : 10/14/2002<br>Carol A. Bocchini - reorganized : 10/5/2001<br>Victor A. McKusick - updated : 9/27/2001<br>Victor A. McKusick - updated : 3/15/2000<br>John A. Phillips, III - updated : 11/23/1999<br>Victor A. McKusick - updated : 5/30/1997
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</span>
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<a id="creationDate" 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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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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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/07/2024
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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alopez : 02/01/2024<br>carol : 09/04/2018<br>carol : 07/23/2018<br>carol : 07/20/2018<br>carol : 05/26/2015<br>carol : 9/20/2010<br>carol : 9/4/2009<br>terry : 2/12/2009<br>carol : 3/20/2008<br>carol : 10/3/2007<br>alopez : 3/19/2003<br>carol : 3/10/2003<br>terry : 3/10/2003<br>tkritzer : 3/7/2003<br>cwells : 10/16/2002<br>alopez : 10/14/2002<br>carol : 10/5/2001<br>carol : 10/5/2001<br>mcapotos : 10/4/2001<br>terry : 9/27/2001<br>carol : 4/17/2000<br>mcapotos : 4/6/2000<br>mcapotos : 4/4/2000<br>terry : 3/15/2000<br>alopez : 11/23/1999<br>alopez : 11/23/1999<br>terry : 5/3/1999<br>carol : 8/17/1998<br>alopez : 7/7/1997<br>joanna : 7/7/1997<br>alopez : 6/26/1997<br>terry : 6/21/1997<br>jenny : 6/3/1997<br>terry : 5/30/1997<br>carol : 1/23/1995<br>mimadm : 1/14/1995<br>davew : 8/18/1994<br>warfield : 3/29/1994<br>carol : 8/31/1992<br>carol : 8/17/1992
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<span class="mim-font">
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<strong>#</strong> 166600
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OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE II<br />
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MARBLE BONES, AUTOSOMAL DOMINANT<br />
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OSTEOSCLEROSIS FRAGILIS GENERALISATA<br />
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ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT
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<strong>SNOMEDCT:</strong> 725050005;
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<strong>ORPHA:</strong> 53;
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<strong>DO:</strong> 0110938;
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<strong>Phenotype-Gene Relationships</strong>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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16p13.3
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<td>
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<span class="mim-font">
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Osteopetrosis, autosomal dominant 2
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<span class="mim-font">
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166600
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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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CLCN7
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<span class="mim-font">
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602727
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant osteopetrosis-2 (OPTA2) is caused by heterozygous mutation in the CLCN7 gene (602727) on chromosome 16p13.</p><p>An autosomal recessive form of osteopetrosis (OPTA4; 611490) is also caused by mutation in the CLCN7 gene.</p>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Autosomal dominant osteopetrosis-2 (OPTA2) is characterized by segmentary osteosclerosis, predominantly at the vertebral endplates ('rugger-jersey spine'), iliac wings ('bone within bone' sign), and skull base. Clinical manifestations include cranial nerve palsies, mandibular osteomyelitis, osteoarthritis of the hip, and nontraumatic fractures, particularly of the long bones (Cleiren et al., 2001). OPTA2 accounts for 70% of cases of autosomal dominant osteopetrosis (Del Fattore et al., 2008). </p><p>For a discussion of genetic heterogeneity of autosomal dominant osteopetrosis, see OPTA1 (607634).</p>
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<strong>Clinical Features</strong>
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<p>Salzano (1961) reviewed dominant cases of osteopetrosis and found that fragility of bones and dental abscess are leading complications. A more malignant form, inherited as a recessive (see OPTB1, 259700), causes anemia and early death from interference with the bone marrow. Welford (1959) described 14 affected male members of 5 generations of a family. All affected persons had facial paralysis beginning usually at about the age of 12 years. Main clinical features are fractures and osteomyelitis, especially of the mandible. By x-ray the vertebral bodies have a characteristic 'sandwich' appearance resulting from sclerosis of the upper and lower plates with intervening less dense area. Long bones of the extremities may show a 'bone-within-bone' appearance. Osteosclerosis, sometimes termed osteopetrosis, is a feature of pycnodysostosis (265800). Follow-up on the family reported by Ghormley (1922) was provided by McKusick (1961). Johnston et al. (1968) studied 2 families. In one pedigree, the disorder was twice nonpenetrant. Elevated acid phosphatase was a feature in all but one of the affected persons. </p><p>Andersen and Bollerslev (1987) suggested that autosomal dominant osteopetrosis has 2 distinct radiologic types. Both have universal osteosclerosis, but in type I, the most striking finding is pronounced sclerosis of the cranial vault while the spine is almost unaffected; in type II, the sclerosis of the skull is most pronounced at the base, the vertebrae always have endplate thickening, and in the pelvis, the iliac wings contain convex arcs of sclerotic bone. Age and sex distribution did not differ between the types and each 'bred true' within given families. </p><p>By review of radiographs of 34 patients with autosomal dominant osteopetrosis, Bollerslev and Andersen (1988) defined 2 distinct types. Type I showed pronounced sclerosis of the skull with an enlarged thickness of the cranial wall. Sclerosis of the skull in type II was most striking at the base. In type II, there was a typical 'rugger-jersey spine,' and endobones (bones within a bone) were seen in the pelvis. Radiographic studies of the long bones did not show any difference between the 2 types. Compared to normal controls, there was a normal total subperiosteal width, but a significantly increased cortical thickness, and thus a reduced medullary cavity, suggesting normal bone formation and disturbed bone resorption. Bollerslev and Andersen (1988) found that serum phosphate was lower in type I compared to type II (P less than 0.01), and serum acid phosphatase was markedly increased in type II (P less than 0.01), suggesting differences between the 2 types in bone mineral metabolism and structural function of the osteoclasts. </p><p>Walpole et al. (1990) described a large Australian family known to have 13 cases of osteopetrosis in 4 generations. The phenotypic spectrum varied from an asymptomatic condition in adults to a severely affected infant in the most recent generation who presented with anemia, hepatosplenomegaly, hydrocephalus, and blindness. Although the wide spectrum of severity in osteopetrosis is well known, they found only 1 report of the severe infantile form occurring in a dominant pedigree with mainly mild adult cases (Thomson, 1949). It is possible that the mother of the severely affected proband had osteopetrosis or that the father was heterozygous for the infantile form, making the proband a compound heterozygote. The possibility of an extramarital mating with another osteopetrotic individual was considered unlikely, but paternity was not checked with markers. </p><p>Bollerslev and Mosekilde (1993) found that bone resorption appears to be defective and bone formation normal in both types of patients. The frequency of fractures is increased in type II patients and normal in type I patients, in whom biomechanical investigations have shown normal or even increased trabecular bone strength. </p><p>Benichou et al. (2000) reported the clinical and radiologic manifestations in 42 patients with autosomal dominant osteopetrosis, purportedly the largest series reported to that time. The inclusion criterion was presence on radiographs of the spine of vertebral endplate thickening, producing the classic sandwich vertebra appearance. They found various patterns of sandwich vertebra. The classic bone-within-bone appearance was present in most but not all skeletal sites. The radiologic penetrance of the disease was high (90%) and increased after 20 years of age. As many as 81% of their patients experienced clinical manifestations. Fractures were common (78% of patients) and healed slowly. Hip osteoarthritis developed in 27% of patients and required arthroplasty in 9 of the 16 affected hips. Nonmandibular osteomyelitis occurred in 4 cases (11%); 24% of patients had thoracic or lumbar scoliosis. Orthopedic surgery was performed in 52.8% of patients, of whom half had at least 3 surgical procedures for internal fracture fixation, arthroplasty, limb deformity correction, or treatment of surgical complications. There was a high rate of surgical complications, including nonunion, infection, prosthesis loosening, and intraoperative fractures. Nearly two-thirds of patients (64%) had stomatologic manifestations, including mandibular osteomyelitis in 4 patients (11%). Cranial nerve involvement responsible for hearing loss, bilateral optic atrophy, and/or facial palsy was present in 14 patients but was clearly attributable to the osteopetrosis in only 6 cases (16%). Benichou et al. (2000) suggested that the name 'benign osteopetrosis' is a misnomer. </p><p>Waguespack et al. (2007) studied 311 subjects from 11 families segregating autosomal dominant osteopetrosis caused by mutation in the CLCN7 gene: 62 individuals with OPTA2, 32 unaffected mutation carriers, and 217 controls. Ninety-two percent of OPTA2 patients had at least one sequela of the disease. Gene carriers did not have an increased risk of disease manifestations, but were found to have significant increases in bone mineral density (p less than 0.05). Compared with controls, patients had a significantly increased prevalence of fracture (84 vs 36%; p less than 0.0001) and osteomyelitis (16 vs 0.9%; p less than 0.0001). Severe fractures (defined as greater than 10 fractures of any type and/or greater than 1 hip/femur fracture) were identified only in patients, and osteomyelitis typically occurred in the maxilla or mandible in older adults. Severe vision loss occurred in 12 (19%) of 62 patients, and in 11 of the 12 cases, the onset was clearly in childhood. Two patients (3%) had significant bone marrow failure, requiring hematologic supportive care. Waguespack et al. (2007) concluded that OPTA2 is a frequently symptomatic disease manifested by a high rate of fracture, osteomyelitis, visual loss, as well as occasional bone marrow failure. Sequelae of OPTA2, which can be identified as early as infancy, appear to worsen over time. Fracture is the most prevalent consequence of OPTA2, although other more severe manifestations of disease can occur and should not be confused with recessive forms of osteopetrosis, particularly when identified in early childhood. </p>
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<h4>
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<strong>Inheritance</strong>
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<p>The transmission pattern of OPTA2 in the families reported by Cleiren et al. (2001) was consistent with autosomal dominant inheritance. </p>
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<h4>
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<strong>Biochemical Features</strong>
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<p>Yoneyama et al. (1989) found elevated creatine kinase of the so-called BB type (CKB; 123280) in 3 adults with osteopetrosis. Yoneyama et al. (1992) demonstrated marked elevation of BB isozyme fraction of serum creatine kinase for male sibs with this disorder. Patients with other sclerosing bone diseases showed no such elevation. Hiroyama et al. (1987) found the brain isozyme to be elevated in infantile osteopetrosis (see OPTB1, 259700). </p><p>Individuals with autosomal dominant osteoporosis type II (OPTA2) have elevated serum levels of tartrate-resistant acid phosphatase (TRAP; 171640) and the BB isoenzyme of creatine kinase (CKBB). Waguespack et al. (2002) tested the utility of these enzymes in making or refuting a diagnosis of OPTA2. Furthermore, because OPTA2 has incomplete penetrance, they examined whether TRAP and CKBB were helpful in identifying gene carriers. They studied 8 families, measured serum levels of TRAP and CKBB in 52 affected individuals and 12 obligate gene carriers, and compared their values with those of age-matched controls. Their results demonstrated that affected patients have significantly elevated levels of both TRAP and CKBB. In contrast, gene carriers have values that are not different from those of controls. Furthermore, in their study population, TRAP and CKBB had a high diagnostic sensitivity and specificity, particularly in children. Waguespack et al. (2002) concluded that (1) TRAP and CKBB are significantly elevated in patients with OPTA2; (2) obligate carriers cannot be adequately identified by measurement of these analyses; and (3) measurements of TRAP and CKBB are highly sensitive and specific diagnostic tests that can efficiently and effectively screen high-risk individuals who have not had previous radiographic assessment. </p>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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<span class="mim-text-font">
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<p>Key et al. (1984) demonstrated benefit from the potent bone-resorbing agent calcitriol, which is a metabolite of vitamin D. </p>
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<strong>Population Genetics</strong>
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<span class="mim-text-font">
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<p>Salzano (1961) estimated the frequency of the dominant form of osteopetrosis in Brazil to be about 1 in 100,000. </p><p>Cleiren et al. (2001) stated that the OPTA2 is the most common form of osteopetrosis, with a prevalence of up to 5.5 cases per 100,000 individuals. </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>In an extended Danish family with the type II disorder, Van Hul et al. (1997) found presumed linkage to microsatellite markers in the 1p21 region. The chromosomal region was analyzed for possible linkage between Albers-Schonberg disease and the gene for macrophage colony-stimulating factor (CSF1; 120420), a hematopoietic growth factor that plays an important role in the proliferation of macrophages and osteoclasts from hematopoietic stem cells. Refined mapping appeared to exclude CSF1 as the site of the mutation in their family.</p><p>White et al. (1999) studied 2 families from Indiana with osteopetrosis type II to determine if the disease locus in these families was also linked to chromosome 1p21. They used 6 microsatellite repeat markers which demonstrated linkage to the CSF1 region in the Danish study to perform linkage analysis in the new kindreds. Multipoint analysis excluded linkage of the disease to chromosome 1p21 in both families. In addition, no haplotype segregated with the disorder in either family. The authors concluded that there is locus heterogeneity for osteopetrosis type II. </p><p>Benichou et al. (2001) performed a genomewide linkage scan of an extended French family with autosomal dominant osteopetrosis type II, which allowed them to localize the disease locus to chromosome 16p13.3. Analysis of microsatellite markers in 5 further families could not exclude this chromosome region. A summed maximum lod score of 12.70 was generated with marker D16S3027, at a recombination fraction of 0.0. On the basis of the key recombinants in the families, a candidate region of 8.4 cM was delineated, flanked by marker D16S521 distally and D16S423 proximally. Surprisingly, one of the families analyzed by Benichou et al. (2001) was the Danish family in which van Hul et al. (1997) found presumed linkage to 1p21. In that family, linkage to 16p13.3 could not be excluded, since a maximum lod score of 4.21 at theta = 0.0 was generated with marker D16S3027. Because no other family with type II osteopetrosis had been proved to have linkage to 1p21, Benichou et al. (2001) considered it most likely that the disease-causing gene was located in this family at 16p13.3. The possibility that type II is genetically homogeneous with a single gene on 16p13.3 was raised. </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>
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</h4>
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<span class="mim-text-font">
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<p>In affected individuals from 12 unrelated families with autosomal dominant osteopetrosis, including the Danish family initially linked to chromosome 1p21 by Van Hul et al. (1997) and 8 families previously studied by Van Gaal et al. (1978), Manzke et al. (1982), and Benichou et al. (2001), Cleiren et al. (2001) identified heterozygosity for 7 different mutations in the CLCN7 gene (see, e.g., 602727.0004 and 602727.0005). Analysis of microsatellite markers indicated that the mutations arose independently in each family. Additionally, Cleiren et al. (2001) identified 1 patient with the severe autosomal recessive infantile form of osteopetrosis (OPTB4) who was homozygous for a CLCN7 missense mutation (L766P; 602727.0003), for which her asymptomatic parents were heterozygous. The authors concluded that type II autosomal dominant osteopetrosis is allelic to a subset of autosomal recessive osteopetrosis cases. </p>
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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">
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Ilha and Salzano (1961)
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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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Andersen, P. E., Jr., Bollerslev, J.
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<strong>Heterogeneity of autosomal dominant osteopetrosis.</strong>
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Radiology 164: 223-225, 1987.
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[PubMed: 3588909]
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[Full Text: https://doi.org/10.1148/radiology.164.1.3588909]
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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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Benichou, O., Cleiren, E., Gram, J., Bollerslev, J., de Vernejoul, M.-C., Van Hul, W.
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<strong>Mapping of autosomal dominant osteopetrosis type II (Albers-Schonberg disease) to chromosome 16p13.3.</strong>
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Am. J. Hum. Genet. 69: 647-654, 2001.
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[PubMed: 11468688]
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[Full Text: https://doi.org/10.1086/323132]
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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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Benichou, O. D., Laredo, J. D., De Vernejoul, M. C.
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<strong>Type II autosomal dominant osteopetrosis (Albers-Schonberg disease): clinical and radiological manifestations in 42 patients.</strong>
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Bone 26: 87-93, 2000.
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[PubMed: 10617161]
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[Full Text: https://doi.org/10.1016/s8756-3282(99)00244-6]
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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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Bollerslev, J., Andersen, P. E., Jr.
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<strong>Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis.</strong>
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Bone 9: 7-13, 1988.
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[PubMed: 3377922]
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[Full Text: https://doi.org/10.1016/8756-3282(88)90021-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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Bollerslev, J., Mosekilde, L.
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<strong>Autosomal dominant osteopetrosis.</strong>
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Clin. Orthop. Relat. Res. 294: 45-51, 1993.
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[PubMed: 8358946]
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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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Cleiren, E., Benichou, O., Van Hul, E., Gram, J., Bollerslev, J., Singer, F. R., Beaverson, K., Aledo, A., Whyte, M. P., Yoneyama, T., deVernejoul, M.-C., Van Hul, W.
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<strong>Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.</strong>
|
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Hum. Molec. Genet. 10: 2861-2867, 2001.
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[PubMed: 11741829]
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[Full Text: https://doi.org/10.1093/hmg/10.25.2861]
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</p>
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<p class="mim-text-font">
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Del Fattore, A., Fornari, R., Van Wesenbeeck, L., de Freitas, F., Timmermans, J.-P., Peruzzi, B., Cappariello, A., Rucci, N., Spera, G., Helfrich, M. H., Van Hul, W., Migliaccio, S., Teti, A.
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<strong>A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with Run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts.</strong>
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J. Bone Miner. Res. 23: 380-391, 2008.
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[PubMed: 17997709]
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[Full Text: https://doi.org/10.1359/jbmr.071107]
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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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Ghormley, R. K.
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<strong>A case of congenital osteosclerosis.</strong>
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Bull. Johns Hopkins Hosp. 33: 444-446, 1922.
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</p>
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<p class="mim-text-font">
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Hiroyama, Y., Miike, T., Sugino, S., Taku, K.
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<strong>Creatine kinase brain isoenzyme in infantile osteopetrosis.</strong>
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Pediat. Neurol. 3: 54-57, 1987.
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[PubMed: 3508049]
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[Full Text: https://doi.org/10.1016/0887-8994(87)90057-9]
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</p>
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<p class="mim-text-font">
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Ilha, D. O., Salzano, F. M.
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<strong>A roentgenologic and genetic study of a rare osseous dystrophy.</strong>
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Acta Genet. Med. Gemellol. (Roma) 10: 340-352, 1961.
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</p>
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<p class="mim-text-font">
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Johnston, C. C., Jr., Lavy, N., Lord, T., Vellios, F., Merritt, A. D., Deiss, W. P., Jr.
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<strong>Osteopetrosis: a clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form.</strong>
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Medicine 47: 149-167, 1968.
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[PubMed: 4871758]
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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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Key, L., Carnes, D., Cole, S., Holtrop, M., Bar-Shavit, Z., Shapiro, F., Arceci, R., Steinberg, J., Gundberg, C., Kahn, A., Teitelbaum, S., Anast, C.
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<strong>Treatment of congenital osteopetrosis with high-dose calcitriol.</strong>
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New Eng. J. Med. 310: 409-415, 1984.
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[PubMed: 6546410]
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[Full Text: https://doi.org/10.1056/NEJM198402163100701]
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</li>
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<li>
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<p class="mim-text-font">
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Manzke, E., Gruber, H. E., Hiness, R. W., Baylink, D. J.
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<strong>Skeletal remodelling and bone related hormones in two adults with increased bone mass.</strong>
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Metabolism 31: 25-32, 1982.
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[PubMed: 7078404]
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</p>
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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>Medical genetics 1960.</strong>
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J. Chronic Dis. 14: 417-572, 1961. Fig. 67.
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</p>
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<li>
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<p class="mim-text-font">
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Salzano, F. M.
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<strong>Osteopetrosis: review of dominant cases and frequency in a Brazilian state.</strong>
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Acta Genet. Med. Gemellol. 10: 353-358, 1961.
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[PubMed: 14496532]
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[Full Text: https://doi.org/10.1017/s1120962300016954]
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</p>
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<li>
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<p class="mim-text-font">
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Thomson, J.
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<strong>Osteopetrosis in successive generations.</strong>
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Arch. Dis. Child. 24: 143-148, 1949.
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[PubMed: 18131787]
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[Full Text: https://doi.org/10.1136/adc.24.118.143]
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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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Van Gaal, L., De Leeuw, I., Abs, R.
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<strong>Familiale benigne osteopetrose.</strong>
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Tijdschr Geneeskunde 24: 1597-1604, 1978.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Van Hul, W., Van Hul, E., Wuyts, W., Bollerslev, J., Gram, J., Benichou, O., Willems, P. J.
|
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<strong>The Albers-Schonberg disease (autosomal dominant osteopetrosis) gene is located on chromosome 1p21 in a region containing the macrophage colony stimulating factor (CSF-1) gene. (Abstract)</strong>
|
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Medizinische Genetik 9: 8 only, 1997.
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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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Waguespack, S. G., Hui, S. L., DiMeglio, L. A., Econs, M. J.
|
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<strong>Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation.</strong>
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|
J. Clin. Endocr. Metab. 92: 771-778, 2007.
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[PubMed: 17164308]
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[Full Text: https://doi.org/10.1210/jc.2006-1986]
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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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Waguespack, S. G., Hui, S. L., White, K. E., Buckwalter, K. A., Econs, M. J.
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<strong>Measurement of tartrate-resistant acid phosphatase and the brain isoenzyme of creatine kinase accurately diagnoses type II autosomal dominant osteopetrosis but does not identify gene carriers.</strong>
|
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J. Clin. Endocr. Metab. 87: 2212-2217, 2002.
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[PubMed: 11994366]
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[Full Text: https://doi.org/10.1210/jcem.87.5.8497]
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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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Walpole, I. R., Nicoll, A., Goldblatt, J.
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<strong>Autosomal dominant osteopetrosis type II with 'malignant' presentation: further support for heterogeneity?</strong>
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Clin. Genet. 38: 257-263, 1990.
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[PubMed: 2268972]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1990.tb03578.x]
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Welford, N. T.
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<strong>Facial paralysis associated with osteopetrosis (marble bones).</strong>
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J. Pediat. 55: 67-72, 1959.
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[PubMed: 13665485]
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[Full Text: https://doi.org/10.1016/s0022-3476(59)80173-6]
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White, K. E., Koller, D. L., Takacs, I., Buckwalter, K. A., Foroud, T., Econs, M. J.
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<strong>Locus heterogeneity of autosomal dominant osteopetrosis (ADO).</strong>
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J. Clin. Endocr. Metab. 84: 1047-1051, 1999.
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[PubMed: 10084593]
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[Full Text: https://doi.org/10.1210/jcem.84.3.5578]
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Yoneyama, T., Fowler, H. L., Pendleton, J. W., Sforza, P. P., Gerard, R. D., Lui, C. Y., Eldridge, T. H., Iranmanesh, A.
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<strong>Elevated serum levels of creatine kinase BB in autosomal dominant osteopetrosis type II--a family study.</strong>
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Clin. Genet. 42: 39-42, 1992.
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[PubMed: 1516225]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1992.tb03134.x]
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Yoneyama, T., Fowler, H. L., Pendleton, J. W., Sforza, P. P., Lui, C. Y., Iranmanesh, A., Gerard, R. D.
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<strong>Elevated levels of creatine kinase BB isoenzyme in three patients with adult osteopetrosis. (Letter)</strong>
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New Eng. J. Med. 320: 1284-1285, 1989.
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[PubMed: 2710212]
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[Full Text: https://doi.org/10.1056/nejm198905113201920]
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Marla J. F. O'Neill - updated : 09/04/2018<br>John A. Phillips, III - updated : 3/20/2008<br>Marla J. F. O'Neill - updated : 10/3/2007<br>Victor A. McKusick - updated : 3/10/2003<br>George E. Tiller - updated : 10/16/2002<br>John A. Phillips, III - updated : 10/14/2002<br>Carol A. Bocchini - reorganized : 10/5/2001<br>Victor A. McKusick - updated : 9/27/2001<br>Victor A. McKusick - updated : 3/15/2000<br>John A. Phillips, III - updated : 11/23/1999<br>Victor A. McKusick - updated : 5/30/1997
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Victor A. McKusick : 6/2/1986
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