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<title>
Entry
- #166300 - MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MCTO
- OMIM
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<span class="h4">#166300</span>
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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/166300"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=(MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME) OR (MAFB)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2524&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>
<div><a href="https://www.diseaseinfosearch.org/x/4936" 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>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=166300[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>
<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2774" 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>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/a197969a-019f-4a21-91a6-9d69be4e9ed8/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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111534" 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>
<div><a href="http://www.informatics.jax.org/disease/166300" 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>
<div><a href="https://wormbase.org/resources/disease/DOID:0111534" 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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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:166300" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
<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.">
&nbsp;
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 766992008<br />
<strong>ORPHA:</strong> 2774<br />
<strong>DO:</strong> 0111534<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
166300
</span>
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</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MCTO
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH OR WITHOUT NEPHROPATHY<br />
MULTICENTRIC OSTEOLYSIS, AUTOSOMAL DOMINANT
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/289?start=-3&limit=10&highlight=289">
20q12
</a>
</span>
</td>
<td>
<span class="mim-font">
Multicentric carpotarsal osteolysis syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/166300"> 166300 </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">
MAFB
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608968"> 608968 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
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<a href="/clinicalSynopsis/166300" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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&nbsp;
<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>
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<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/166300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/166300" 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>
<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">
- Maxillary hypoplasia <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.03</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240310</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000327</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000327</a>]</span><br /> -
Micrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Micrognathia-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><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">
- Exophthalmos <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18265008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18265008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H05.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H05.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015300&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015300</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000520" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000520</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000520" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000520</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Nephropathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90708001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90708001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N28.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N28.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N08" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N08</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022658&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022658</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000112" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000112</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000112" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000112</a>]</span><br /> -
Hypertension <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38341003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38341003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/401-405.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">401-405.99</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/997.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">997.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span><br /> -
Renal failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42399005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42399005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N19</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">586</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035078</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</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">
- Osteopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/312894000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">312894000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029453</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000938</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000938</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Ulnar deviation of hands <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249757009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249757009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241521&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241521</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009487</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009487</a>]</span><br /> -
Wrist swelling <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241760&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241760</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001225" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001225</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001225" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001225</a>]</span><br /> -
Wrist arthralgia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56608008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56608008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/202482009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">202482009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M25.53" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M25.53</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221785&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221785</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030836" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030836</a>]</span><br /> -
Carpal bone osteolysis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833734&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833734</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001495" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001495</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001495" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001495</a>]</span><br /> -
Metacarpal osteolysis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854610&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854610</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001504" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001504</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001504" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001504</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pes cavus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205091006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205091006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36755004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36755004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86900005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86900005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.73" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.73</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/754.71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.71</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0728829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0728829</a>, <a href="https://bioportal.bioontology.org/search?q=C0039273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039273</a>, <a href="https://bioportal.bioontology.org/search?q=C2239098&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2239098</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Pes_Cavus-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Ankle swelling <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26237000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26237000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267039000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267039000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235439</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001785" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001785</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001785" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001785</a>]</span><br /> -
Ankle arthralgia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247373008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247373008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/202490009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">202490009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0238656&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0238656</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030840" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030840</a>]</span><br /> -
Tarsal bone osteolysis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833735&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833735</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006234" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006234</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006234" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006234</a>]</span><br /> -
Metatarsal osteolysis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854614&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854614</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001473" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001473</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001473" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001473</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MUSCLE, SOFT TISSUES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Ankle swelling <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26237000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26237000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267039000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267039000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235439</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001785" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001785</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001785" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001785</a>]</span><br /> -
Wrist swelling <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241760&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241760</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001225" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001225</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001225" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001225</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Proteinuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29738008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29738008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/231860006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">231860006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1279888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279888</a>, <a href="https://bioportal.bioontology.org/search?q=C0033687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033687</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span><br />
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- Onset in infancy-early childhood<br />
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- Caused by mutation in the MAF bZIP transcription factor B gene (MAFB, <a href="/entry/608968#0001">608968.0001</a>)<br />
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<p>A number sign (#) is used with this entry because of evidence that multicentric carpotarsal osteolysis syndrome (MCTO) is caused by heterozygous mutation in the MAFB gene (<a href="/entry/608968">608968</a>) on chromosome 20q12.</p>
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<strong>Description</strong>
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<p>Multicentric carpotarsal osteolysis syndrome is a rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Mental retardation and minor facial anomalies have been noted in some patients. Autosomal dominant inheritance has been documented in many families (<a href="#12" class="mim-tip-reference" title="Pai, G. S., Macpherson, R. I. &lt;strong&gt;Idiopathic multicentric osteolysis: report of two new cases and a review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 29: 929-936, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3041835/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3041835&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320290425&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3041835">Pai and Macpherson, 1988</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3041835" 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>See also Torg-Winchester syndrome (<a href="/entry/259600">259600</a>), an autosomal recessive multicentric osteolysis syndrome.</p>
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<strong>Clinical Features</strong>
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<p><a href="#15" class="mim-tip-reference" title="Shurtleff, D. B., Sparkes, R. S., Clawson, D. K., Guntheroth, W. G., Mottet, N. K. &lt;strong&gt;Hereditary osteolysis with hypertension and nephropathy.&lt;/strong&gt; JAMA 188: 363-368, 1964.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14114021/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14114021&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/jama.1964.03060300025005&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14114021">Shurtleff et al. (1964)</a> observed a family in which 11 persons in 3 generations had osteolysis of the carpal bones with nephropathy. Osteolysis of the carpal bones led to disappearance of these bones in older subjects. Deformity of the hands suggesting arthritis also occurred in severe cases. Hypertension and renal failure resulting from arteriolar thickening were internal complications. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14114021" 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="Caffey, J. P. &lt;strong&gt;Idiopathic familial multiple carpal necrosis. Pediatric X-ray Diagnosis. (4th ed.)&lt;/strong&gt; Chicago: Year Book Med. Publ. (pub.) 1961. P. 984."None>Caffey (1961)</a> described affected father and son. The father died of uremia (<a href="#11" class="mim-tip-reference" title="McKusick, V. A. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Baltimore, Md. 1970."None>McKusick, 1970</a>).</p><p><a href="#18" class="mim-tip-reference" title="Torg, J. S., DiGeorge, A. M., Kirkpatrick, J. A., Jr., Trujillo, M. M. &lt;strong&gt;Hereditary multicentric osteolysis with recessive transmission: a new syndrome.&lt;/strong&gt; J. Pediat. 75: 243-252, 1969.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5795345/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5795345&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(69)80395-1&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5795345">Torg et al. (1969)</a> suggested that sporadic cases such as that of <a href="#10" class="mim-tip-reference" title="Lagier, R., Rutishauser, E. &lt;strong&gt;Osteoarticular changes in a case of essential osteolysis.&lt;/strong&gt; J. Bone Joint Surg. Br. 47: 339-353, 1965.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14302739/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14302739&lt;/a&gt;]" pmid="14302739">Lagier and Rutishauser (1965)</a> and that of <a href="#19" class="mim-tip-reference" title="Torg, J. S., Steel, H. H. &lt;strong&gt;Essential osteolysis with nephropathy: a review of the literature and case report of an unusual syndrome.&lt;/strong&gt; J. Bone Joint Surg. Am. 50: 1629-1638, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5722853/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5722853&lt;/a&gt;]" pmid="5722853">Torg and Steel (1968)</a> represent a separate disorder. It seems that they are indistinguishable (except quantitatively in terms of severity of renal disease) from the inherited cases and may represent new dominant mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5795345+14302739+5722853" 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="Gluck, J., Miller, J. J., III. &lt;strong&gt;Familial osteolysis of the carpal and tarsal bones.&lt;/strong&gt; J. Pediat. 81: 506-510, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4261959/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4261959&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(72)80177-x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4261959">Gluck and Miller (1972)</a> reported a family with males affected with osteolysis in 3 successive generations. Nephropathy and hypertension were not present. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4261959" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Kohler, E., Babbitt, D., Huizenga, B., Good, T. A. &lt;strong&gt;Hereditary osteolysis: a clinical, radiological and chemical study.&lt;/strong&gt; Radiology 108: 99-106, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4709054/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4709054&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1148/108.1.99&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4709054">Kohler et al. (1973)</a> described a father and 3 sibs with hereditary osteolysis. The osteolysis was most severe in the carpal and tarsal bones. The osteolysis was also present and spreading in adjacent areas. All the affected showed arthritic symptoms in childhood, painless deformities of the wrists and feet, and a Marfan-like appearance. Mild deterioration of the elbow was present in the children. No hypertension or renal involvement was seen. These patients demonstrated an elevated alkaline phosphatase reflecting the process of bone destruction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4709054" 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="#22" class="mim-tip-reference" title="Whyte, M. P., Murphy, W. A., Kleerekoper, M., Teitelbaum, S. L., Avioli, L. V. &lt;strong&gt;Idiopathic multicentric osteolysis: report of an affected father and son.&lt;/strong&gt; Arthritis Rheum. 21: 367-376, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/646835/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;646835&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/art.1780210313&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="646835">Whyte et al. (1978)</a> described affected father and son. Both had micrognathia and hypotelorism and were exceptionally tall during the symptomatic stage of their disease. Urinary hydroxyproline was increased. <a href="#22" class="mim-tip-reference" title="Whyte, M. P., Murphy, W. A., Kleerekoper, M., Teitelbaum, S. L., Avioli, L. V. &lt;strong&gt;Idiopathic multicentric osteolysis: report of an affected father and son.&lt;/strong&gt; Arthritis Rheum. 21: 367-376, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/646835/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;646835&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/art.1780210313&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="646835">Whyte et al. (1978)</a> suggested that multicentric osteolysis with nephropathy is an entity separate from hereditary multicentric osteolysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=646835" 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="Bennett, W. M., Houghton, D. C., Beals, R. C. &lt;strong&gt;Nephropathy of idiopathic multicentric osteolysis.&lt;/strong&gt; Nephron 25: 134-138, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7360298/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7360298&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1159/000181769&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7360298">Bennett et al. (1980)</a> described a female patient with onset of puffy and tender feet and wrists at age 21 months. She was 135 cm tall at the age of 13. At age 14 cloudiness of the lower portion of both corneas was discovered. Proteinuria and white cells in the urine with no bacteria were discovered at age 16. Then and at age 18 and 20, blood pressure was normal. At the age of 22, the patient presented with a blood pressure of 240/140; however, hypertensive retinopathy was not seen. The patient died soon afterwards with azotemia. The kidneys weighed 55 grams each. Microscopy showed proliferation of vascular intima and medial hypertrophy of renal vessels of all sizes. Nephropathy in this condition typically appears several years after osteolysis has occurred, and the reverse sequence has, it seems, not been seen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7360298" 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>After diagnosing carpotarsal osteolysis in a man hospitalized for nephropathy, <a href="#5" class="mim-tip-reference" title="Fryns, J. P. &lt;strong&gt;Osteolyse essentielle a debut carpien et tarsien.&lt;/strong&gt; J. Genet. Hum. 30 (suppl. 5): 423-428, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7183750/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7183750&lt;/a&gt;]" pmid="7183750">Fryns (1982)</a> diagnosed the same disorder in his 6-month-old son. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7183750" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Hardegger, F., Simpson, L. A., Segmueller, G. &lt;strong&gt;The syndrome of idiopathic osteolysis: classification, review, and case report.&lt;/strong&gt; J. Bone Joint Surg. Br. 67: 89-93, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3968152/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3968152&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1302/0301-620X.67B1.3968152&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3968152">Hardegger et al. (1985)</a> reported an isolated case and reviewed the various forms of osteolysis including the monocentric massive osteolysis which goes by the name of Gorham (<a href="#7" class="mim-tip-reference" title="Gorham, L. W., Stout, A. P. &lt;strong&gt;Massive osteolysis (acute spontaneous absorption of bone, phantom bone, disappearing bone): its relation to hemangiomatosis.&lt;/strong&gt; J. Bone Joint Surg. Am. 37: 985-1004, 1955.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13263344/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13263344&lt;/a&gt;]" pmid="13263344">Gorham and Stout, 1955</a>) and appears to be nonmendelian. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13263344+3968152" 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="Carnevale, A., Canun, S., Mendoza, L., del Castillo, V. &lt;strong&gt;Idiopathic multicentric osteolysis with facial anomalies and nephropathy.&lt;/strong&gt; Am. J. Med. Genet. 26: 877-886, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3591830/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3591830&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320260415&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3591830">Carnevale et al. (1987)</a> pointed out that clinical manifestations begin in early childhood with arthritis-like episodes involving ankles and wrists, progressive deformities, radiologic osteolytic changes, and variable degrees of disability. They emphasized the triangular shape of the face, protruding eyes, and micrognathia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3591830" 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="#12" class="mim-tip-reference" title="Pai, G. S., Macpherson, R. I. &lt;strong&gt;Idiopathic multicentric osteolysis: report of two new cases and a review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 29: 929-936, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3041835/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3041835&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320290425&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3041835">Pai and Macpherson (1988)</a> reported 2 sporadic cases. One of the patients was described as having a 'peculiar, chubby cheek, doll-like facial appearance' in spite of a generally cachectic appearance. Similar facial changes were noted in the review by <a href="#3" class="mim-tip-reference" title="Carnevale, A., Canun, S., Mendoza, L., del Castillo, V. &lt;strong&gt;Idiopathic multicentric osteolysis with facial anomalies and nephropathy.&lt;/strong&gt; Am. J. Med. Genet. 26: 877-886, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3591830/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3591830&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320260415&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3591830">Carnevale et al. (1987)</a>. The second patient of <a href="#12" class="mim-tip-reference" title="Pai, G. S., Macpherson, R. I. &lt;strong&gt;Idiopathic multicentric osteolysis: report of two new cases and a review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 29: 929-936, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3041835/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3041835&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320290425&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3041835">Pai and Macpherson (1988)</a> was an 11-year-old black boy referred for the management of end-stage renal disease. Proteinuria had first been detected during a preschool examination at age 5. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3041835+3591830" 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>Patients with onset of symptoms in adulthood may represent a subgroup in which ribs, clavicles, sternum, and mandible may be involved (<a href="#13" class="mim-tip-reference" title="Renie, W. A., Pyeritz, R. E. &lt;strong&gt;Idiopathic multicentric osteolysis in a 78-year-old woman.&lt;/strong&gt; Johns Hopkins Med. J. 148: 165-171, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7206409/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7206409&lt;/a&gt;]" pmid="7206409">Renie and Pyeritz, 1981</a>; <a href="#17" class="mim-tip-reference" title="Tookman, A. G., Paice, E. W., White, E. G. &lt;strong&gt;Idiopathic multicentric osteolysis with acro-osteolysis: a case report.&lt;/strong&gt; J. Bone Joint Surg. Br. 67: 86-88, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3968151/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3968151&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1302/0301-620X.67B1.3968151&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3968151">Tookman et al., 1985</a>). It is not clear whether this is genetically determined or whether it is the same disorder as the childhood-onset condition. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7206409+3968151" 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="#14" class="mim-tip-reference" title="Shinohara, O., Kubota, C., Kimura, M., Nishimura, G., Takahashi, S. &lt;strong&gt;Essential osteolysis associated with nephropathy, corneal opacity, and pulmonary stenosis.&lt;/strong&gt; Am. J. Med. Genet. 41: 482-486, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1776642/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1776642&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320410421&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1776642">Shinohara et al. (1991)</a> described a 5-year-old girl with osteolysis of the carpal bones as well as other parts of the skeleton and nephropathy. She also had corneal clouding and valvular pulmonary stenosis, leading <a href="#14" class="mim-tip-reference" title="Shinohara, O., Kubota, C., Kimura, M., Nishimura, G., Takahashi, S. &lt;strong&gt;Essential osteolysis associated with nephropathy, corneal opacity, and pulmonary stenosis.&lt;/strong&gt; Am. J. Med. Genet. 41: 482-486, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1776642/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1776642&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320410421&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1776642">Shinohara et al. (1991)</a> to conclude that the disorder was distinctive. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1776642" 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="Urlus, M., Roosen, P., Lammens, J., Victor, J., DeSmet, L., Molenaers, G., Fabry, G. &lt;strong&gt;Carpo-tarsal osteolysis: case report and review of the literature.&lt;/strong&gt; Genet. Counsel. 4: 25-36, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8471218/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8471218&lt;/a&gt;]" pmid="8471218">Urlus et al. (1993)</a> reported the cases of affected father and daughter and provided an extensive review of the literature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8471218" 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="#23" class="mim-tip-reference" title="Zankl, A., Duncan, E. L., Leo, P. J., Clark, G. R., Glazov, E. A., Addor, M.-C., Herlin, T., Kim, C. A., Leheup. B. P., McGill, J., McTaggart, S., Mittas, S., Mitchell, A. L., Mortier, G. R., Robertson, S. P., Schroeder, M., Terhal, P., Brown, M. A. &lt;strong&gt;Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.&lt;/strong&gt; Am. J. Hum. Genet. 90: 494-501, 2012. Note: Erratum: Am. J. Hum. Genet. 94: 643 only, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22387013/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22387013&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22387013[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2012.01.003&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22387013">Zankl et al. (2012)</a> studied 11 simplex probands and 2 multigenerational pedigrees with multicentric carpotarsal osteolysis. Each affected individual had classic radiographic features of MCTO, with complete destruction of carpal bones but relatively well-preserved metacarpals and phalanges. Of the 11 simplex cases, 5 had undergone renal transplantation and 3 had markedly impaired renal function but did not yet require dialysis; the remaining 3 patients, who showed no evidence of renal dysfunction, were all under 7 years of age. The affected individuals from the 2 families with MCTO showed no evidence of renal dysfunction, with the exception of 1 patient who 'at a very old age' developed renal dysfunction of unknown etiology. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22387013" 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>Male-to-male transmission in several cases of osteolysis of carpal bones with nephropathy (e.g., <a href="#2" class="mim-tip-reference" title="Caffey, J. P. &lt;strong&gt;Idiopathic familial multiple carpal necrosis. Pediatric X-ray Diagnosis. (4th ed.)&lt;/strong&gt; Chicago: Year Book Med. Publ. (pub.) 1961. P. 984."None>Caffey, 1961</a>, <a href="#22" class="mim-tip-reference" title="Whyte, M. P., Murphy, W. A., Kleerekoper, M., Teitelbaum, S. L., Avioli, L. V. &lt;strong&gt;Idiopathic multicentric osteolysis: report of an affected father and son.&lt;/strong&gt; Arthritis Rheum. 21: 367-376, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/646835/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;646835&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/art.1780210313&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="646835">Whyte et al., 1978</a>, <a href="#5" class="mim-tip-reference" title="Fryns, J. P. &lt;strong&gt;Osteolyse essentielle a debut carpien et tarsien.&lt;/strong&gt; J. Genet. Hum. 30 (suppl. 5): 423-428, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7183750/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7183750&lt;/a&gt;]" pmid="7183750">Fryns, 1982</a>) confirmed autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7183750+646835" 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 5 probands with multicentric carpotarsal osteolysis, <a href="#23" class="mim-tip-reference" title="Zankl, A., Duncan, E. L., Leo, P. J., Clark, G. R., Glazov, E. A., Addor, M.-C., Herlin, T., Kim, C. A., Leheup. B. P., McGill, J., McTaggart, S., Mittas, S., Mitchell, A. L., Mortier, G. R., Robertson, S. P., Schroeder, M., Terhal, P., Brown, M. A. &lt;strong&gt;Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.&lt;/strong&gt; Am. J. Hum. Genet. 90: 494-501, 2012. Note: Erratum: Am. J. Hum. Genet. 94: 643 only, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22387013/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22387013&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22387013[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2012.01.003&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22387013">Zankl et al. (2012)</a> performed whole-exome sequencing followed by quality filtering and identified heterozygosity for missense mutations in the MAFB gene (see, e.g., <a href="/entry/608968#0001">608968.0001</a>-<a href="/entry/608968#0003">608968.0003</a> and <a href="/entry/608968#0005">608968.0005</a>) in all 5 patients. Analysis of MAFB in an additional 6 unrelated simplex cases revealed heterozygosity for missense mutations in all of them (see, e.g., <a href="/entry/608968#0003">608968.0003</a> and <a href="/entry/608968#0004">608968.0004</a>). In 2 families with autosomal dominant inheritance of MCTO, <a href="#23" class="mim-tip-reference" title="Zankl, A., Duncan, E. L., Leo, P. J., Clark, G. R., Glazov, E. A., Addor, M.-C., Herlin, T., Kim, C. A., Leheup. B. P., McGill, J., McTaggart, S., Mittas, S., Mitchell, A. L., Mortier, G. R., Robertson, S. P., Schroeder, M., Terhal, P., Brown, M. A. &lt;strong&gt;Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.&lt;/strong&gt; Am. J. Hum. Genet. 90: 494-501, 2012. Note: Erratum: Am. J. Hum. Genet. 94: 643 only, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22387013/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22387013&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22387013[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2012.01.003&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22387013">Zankl et al. (2012)</a> identified heterozygosity for another missense mutation that segregated with disease in both families (<a href="/entry/608968#0006">608968.0006</a>). Noting that affected individuals from these 2 families, many of whom were adults, did not manifest renal disease, the authors concluded that MAFB mutations are also responsible for MCTO in the absence of renal disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22387013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>See Also:</strong>
</span>
</h4>
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<a href="#Counahan1976" class="mim-tip-reference" title="Counahan, R., Simmons, M. J., Charlwood, G. J. &lt;strong&gt;Multifocal osteolysis with nephropathy.&lt;/strong&gt; Arch. Dis. Child. 51: 717-719, 1976.">Counahan et al. (1976)</a>; <a href="#Thieffry1958" class="mim-tip-reference" title="Thieffry, S., Sorrel-Dejerine, J. &lt;strong&gt;Forme speciale d&#x27;osteolyse essentielle hereditaire et familiale a stabilisation spontanee, survenant dans l&#x27;enfance.&lt;/strong&gt; Presse Med. 66: 1858-1861, 1958.">Thieffry and Sorrel-Dejerine (1958)</a>; <a href="#Tyler1976" class="mim-tip-reference" title="Tyler, T., Rosenbaum, H. D. &lt;strong&gt;Idiopathic multicentric osteolysis.&lt;/strong&gt; Am. J. Roentgen. 126: 23-31, 1976.">Tyler
and Rosenbaum (1976)</a>
</span>
<div>
<br />
</div>
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</div>
<div>
<a id="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
</span>
</h4>
<div>
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</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Bennett1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bennett, W. M., Houghton, D. C., Beals, R. C.
<strong>Nephropathy of idiopathic multicentric osteolysis.</strong>
Nephron 25: 134-138, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7360298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7360298</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7360298" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1159/000181769" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="2" class="mim-anchor"></a>
<a id="Caffey1961" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Caffey, J. P.
<strong>Idiopathic familial multiple carpal necrosis. Pediatric X-ray Diagnosis. (4th ed.)</strong>
Chicago: Year Book Med. Publ. (pub.) 1961. P. 984.
</p>
</div>
</li>
<li>
<a id="3" class="mim-anchor"></a>
<a id="Carnevale1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Carnevale, A., Canun, S., Mendoza, L., del Castillo, V.
<strong>Idiopathic multicentric osteolysis with facial anomalies and nephropathy.</strong>
Am. J. Med. Genet. 26: 877-886, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3591830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3591830</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3591830" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320260415" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="4" class="mim-anchor"></a>
<a id="Counahan1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Counahan, R., Simmons, M. J., Charlwood, G. J.
<strong>Multifocal osteolysis with nephropathy.</strong>
Arch. Dis. Child. 51: 717-719, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/999328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">999328</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=999328" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/adc.51.9.717" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="5" class="mim-anchor"></a>
<a id="Fryns1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fryns, J. P.
<strong>Osteolyse essentielle a debut carpien et tarsien.</strong>
J. Genet. Hum. 30 (suppl. 5): 423-428, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7183750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7183750</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7183750" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Gluck1972" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gluck, J., Miller, J. J., III.
<strong>Familial osteolysis of the carpal and tarsal bones.</strong>
J. Pediat. 81: 506-510, 1972.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4261959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4261959</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4261959" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(72)80177-x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Gorham1955" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gorham, L. W., Stout, A. P.
<strong>Massive osteolysis (acute spontaneous absorption of bone, phantom bone, disappearing bone): its relation to hemangiomatosis.</strong>
J. Bone Joint Surg. Am. 37: 985-1004, 1955.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13263344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13263344</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13263344" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="Hardegger1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hardegger, F., Simpson, L. A., Segmueller, G.
<strong>The syndrome of idiopathic osteolysis: classification, review, and case report.</strong>
J. Bone Joint Surg. Br. 67: 89-93, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3968152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3968152</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3968152" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1302/0301-620X.67B1.3968152" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Kohler1973" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kohler, E., Babbitt, D., Huizenga, B., Good, T. A.
<strong>Hereditary osteolysis: a clinical, radiological and chemical study.</strong>
Radiology 108: 99-106, 1973.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4709054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4709054</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4709054" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1148/108.1.99" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="10" class="mim-anchor"></a>
<a id="Lagier1965" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lagier, R., Rutishauser, E.
<strong>Osteoarticular changes in a case of essential osteolysis.</strong>
J. Bone Joint Surg. Br. 47: 339-353, 1965.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14302739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14302739</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14302739" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="11" class="mim-anchor"></a>
<a id="McKusick1970" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
McKusick, V. A.
<strong>Personal Communication.</strong>
Baltimore, Md. 1970.
</p>
</div>
</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="Pai1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pai, G. S., Macpherson, R. I.
<strong>Idiopathic multicentric osteolysis: report of two new cases and a review of the literature.</strong>
Am. J. Med. Genet. 29: 929-936, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3041835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3041835</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3041835" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320290425" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="13" class="mim-anchor"></a>
<a id="Renie1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Renie, W. A., Pyeritz, R. E.
<strong>Idiopathic multicentric osteolysis in a 78-year-old woman.</strong>
Johns Hopkins Med. J. 148: 165-171, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7206409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7206409</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7206409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="14" class="mim-anchor"></a>
<a id="Shinohara1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Shinohara, O., Kubota, C., Kimura, M., Nishimura, G., Takahashi, S.
<strong>Essential osteolysis associated with nephropathy, corneal opacity, and pulmonary stenosis.</strong>
Am. J. Med. Genet. 41: 482-486, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1776642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1776642</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1776642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320410421" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="15" class="mim-anchor"></a>
<a id="Shurtleff1964" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Shurtleff, D. B., Sparkes, R. S., Clawson, D. K., Guntheroth, W. G., Mottet, N. K.
<strong>Hereditary osteolysis with hypertension and nephropathy.</strong>
JAMA 188: 363-368, 1964.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14114021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14114021</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14114021" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/jama.1964.03060300025005" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="16" class="mim-anchor"></a>
<a id="Thieffry1958" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Thieffry, S., Sorrel-Dejerine, J.
<strong>Forme speciale d'osteolyse essentielle hereditaire et familiale a stabilisation spontanee, survenant dans l'enfance.</strong>
Presse Med. 66: 1858-1861, 1958.
</p>
</div>
</li>
<li>
<a id="17" class="mim-anchor"></a>
<a id="Tookman1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tookman, A. G., Paice, E. W., White, E. G.
<strong>Idiopathic multicentric osteolysis with acro-osteolysis: a case report.</strong>
J. Bone Joint Surg. Br. 67: 86-88, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3968151/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3968151</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3968151" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1302/0301-620X.67B1.3968151" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="18" class="mim-anchor"></a>
<a id="Torg1969" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Torg, J. S., DiGeorge, A. M., Kirkpatrick, J. A., Jr., Trujillo, M. M.
<strong>Hereditary multicentric osteolysis with recessive transmission: a new syndrome.</strong>
J. Pediat. 75: 243-252, 1969.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5795345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5795345</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5795345" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(69)80395-1" target="_blank">Full Text</a>]
</p>
</div>
</li>
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<a id="19" class="mim-anchor"></a>
<a id="Torg1968" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Torg, J. S., Steel, H. H.
<strong>Essential osteolysis with nephropathy: a review of the literature and case report of an unusual syndrome.</strong>
J. Bone Joint Surg. Am. 50: 1629-1638, 1968.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5722853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5722853</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5722853" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="20" class="mim-anchor"></a>
<a id="Tyler1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tyler, T., Rosenbaum, H. D.
<strong>Idiopathic multicentric osteolysis.</strong>
Am. J. Roentgen. 126: 23-31, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/175680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">175680</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=175680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.2214/ajr.126.1.23" target="_blank">Full Text</a>]
</p>
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<a id="21" class="mim-anchor"></a>
<a id="Urlus1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Urlus, M., Roosen, P., Lammens, J., Victor, J., DeSmet, L., Molenaers, G., Fabry, G.
<strong>Carpo-tarsal osteolysis: case report and review of the literature.</strong>
Genet. Counsel. 4: 25-36, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8471218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8471218</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8471218" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
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<a id="22" class="mim-anchor"></a>
<a id="Whyte1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Whyte, M. P., Murphy, W. A., Kleerekoper, M., Teitelbaum, S. L., Avioli, L. V.
<strong>Idiopathic multicentric osteolysis: report of an affected father and son.</strong>
Arthritis Rheum. 21: 367-376, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/646835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">646835</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=646835" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/art.1780210313" target="_blank">Full Text</a>]
</p>
</div>
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<a id="23" class="mim-anchor"></a>
<a id="Zankl2012" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zankl, A., Duncan, E. L., Leo, P. J., Clark, G. R., Glazov, E. A., Addor, M.-C., Herlin, T., Kim, C. A., Leheup. B. P., McGill, J., McTaggart, S., Mittas, S., Mitchell, A. L., Mortier, G. R., Robertson, S. P., Schroeder, M., Terhal, P., Brown, M. A.
<strong>Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.</strong>
Am. J. Hum. Genet. 90: 494-501, 2012. Note: Erratum: Am. J. Hum. Genet. 94: 643 only, 2014.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22387013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22387013</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22387013[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22387013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ajhg.2012.01.003" target="_blank">Full Text</a>]
</p>
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</div>
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<a id="contributors" 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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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Marla J. F. O'Neill - updated : 4/11/2012
</span>
</div>
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</div>
<div>
<a id="creationDate" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Victor A. McKusick : 6/2/1986
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<h3>
<span class="mim-font">
<strong>#</strong> 166300
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<h3>
<span class="mim-font">
MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MCTO
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<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
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<h4>
<span class="mim-font">
OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH OR WITHOUT NEPHROPATHY<br />
MULTICENTRIC OSTEOLYSIS, AUTOSOMAL DOMINANT
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<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 766992008; &nbsp;
<strong>ORPHA:</strong> 2774; &nbsp;
<strong>DO:</strong> 0111534; &nbsp;
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<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<th>
Location
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Phenotype
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<th>
Phenotype <br /> MIM number
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<th>
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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<td>
<span class="mim-font">
20q12
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<span class="mim-font">
Multicentric carpotarsal osteolysis syndrome
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<span class="mim-font">
166300
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<span class="mim-font">
Autosomal dominant
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<span class="mim-font">
3
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MAFB
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<span class="mim-font">
608968
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<span class="mim-font">
<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that multicentric carpotarsal osteolysis syndrome (MCTO) is caused by heterozygous mutation in the MAFB gene (608968) on chromosome 20q12.</p>
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<strong>Description</strong>
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<p>Multicentric carpotarsal osteolysis syndrome is a rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Mental retardation and minor facial anomalies have been noted in some patients. Autosomal dominant inheritance has been documented in many families (Pai and Macpherson, 1988). </p><p>See also Torg-Winchester syndrome (259600), an autosomal recessive multicentric osteolysis syndrome.</p>
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<span class="mim-font">
<strong>Clinical Features</strong>
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<p>Shurtleff et al. (1964) observed a family in which 11 persons in 3 generations had osteolysis of the carpal bones with nephropathy. Osteolysis of the carpal bones led to disappearance of these bones in older subjects. Deformity of the hands suggesting arthritis also occurred in severe cases. Hypertension and renal failure resulting from arteriolar thickening were internal complications. </p><p>Caffey (1961) described affected father and son. The father died of uremia (McKusick, 1970).</p><p>Torg et al. (1969) suggested that sporadic cases such as that of Lagier and Rutishauser (1965) and that of Torg and Steel (1968) represent a separate disorder. It seems that they are indistinguishable (except quantitatively in terms of severity of renal disease) from the inherited cases and may represent new dominant mutations. </p><p>Gluck and Miller (1972) reported a family with males affected with osteolysis in 3 successive generations. Nephropathy and hypertension were not present. </p><p>Kohler et al. (1973) described a father and 3 sibs with hereditary osteolysis. The osteolysis was most severe in the carpal and tarsal bones. The osteolysis was also present and spreading in adjacent areas. All the affected showed arthritic symptoms in childhood, painless deformities of the wrists and feet, and a Marfan-like appearance. Mild deterioration of the elbow was present in the children. No hypertension or renal involvement was seen. These patients demonstrated an elevated alkaline phosphatase reflecting the process of bone destruction. </p><p>Whyte et al. (1978) described affected father and son. Both had micrognathia and hypotelorism and were exceptionally tall during the symptomatic stage of their disease. Urinary hydroxyproline was increased. Whyte et al. (1978) suggested that multicentric osteolysis with nephropathy is an entity separate from hereditary multicentric osteolysis. </p><p>Bennett et al. (1980) described a female patient with onset of puffy and tender feet and wrists at age 21 months. She was 135 cm tall at the age of 13. At age 14 cloudiness of the lower portion of both corneas was discovered. Proteinuria and white cells in the urine with no bacteria were discovered at age 16. Then and at age 18 and 20, blood pressure was normal. At the age of 22, the patient presented with a blood pressure of 240/140; however, hypertensive retinopathy was not seen. The patient died soon afterwards with azotemia. The kidneys weighed 55 grams each. Microscopy showed proliferation of vascular intima and medial hypertrophy of renal vessels of all sizes. Nephropathy in this condition typically appears several years after osteolysis has occurred, and the reverse sequence has, it seems, not been seen. </p><p>After diagnosing carpotarsal osteolysis in a man hospitalized for nephropathy, Fryns (1982) diagnosed the same disorder in his 6-month-old son. </p><p>Hardegger et al. (1985) reported an isolated case and reviewed the various forms of osteolysis including the monocentric massive osteolysis which goes by the name of Gorham (Gorham and Stout, 1955) and appears to be nonmendelian. </p><p>Carnevale et al. (1987) pointed out that clinical manifestations begin in early childhood with arthritis-like episodes involving ankles and wrists, progressive deformities, radiologic osteolytic changes, and variable degrees of disability. They emphasized the triangular shape of the face, protruding eyes, and micrognathia. </p><p>Pai and Macpherson (1988) reported 2 sporadic cases. One of the patients was described as having a 'peculiar, chubby cheek, doll-like facial appearance' in spite of a generally cachectic appearance. Similar facial changes were noted in the review by Carnevale et al. (1987). The second patient of Pai and Macpherson (1988) was an 11-year-old black boy referred for the management of end-stage renal disease. Proteinuria had first been detected during a preschool examination at age 5. </p><p>Patients with onset of symptoms in adulthood may represent a subgroup in which ribs, clavicles, sternum, and mandible may be involved (Renie and Pyeritz, 1981; Tookman et al., 1985). It is not clear whether this is genetically determined or whether it is the same disorder as the childhood-onset condition. </p><p>Shinohara et al. (1991) described a 5-year-old girl with osteolysis of the carpal bones as well as other parts of the skeleton and nephropathy. She also had corneal clouding and valvular pulmonary stenosis, leading Shinohara et al. (1991) to conclude that the disorder was distinctive. </p><p>Urlus et al. (1993) reported the cases of affected father and daughter and provided an extensive review of the literature. </p><p>Zankl et al. (2012) studied 11 simplex probands and 2 multigenerational pedigrees with multicentric carpotarsal osteolysis. Each affected individual had classic radiographic features of MCTO, with complete destruction of carpal bones but relatively well-preserved metacarpals and phalanges. Of the 11 simplex cases, 5 had undergone renal transplantation and 3 had markedly impaired renal function but did not yet require dialysis; the remaining 3 patients, who showed no evidence of renal dysfunction, were all under 7 years of age. The affected individuals from the 2 families with MCTO showed no evidence of renal dysfunction, with the exception of 1 patient who 'at a very old age' developed renal dysfunction of unknown etiology. </p>
</span>
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<h4>
<span class="mim-font">
<strong>Inheritance</strong>
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</h4>
</div>
<span class="mim-text-font">
<p>Male-to-male transmission in several cases of osteolysis of carpal bones with nephropathy (e.g., Caffey, 1961, Whyte et al., 1978, Fryns, 1982) confirmed autosomal dominant inheritance. </p>
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<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
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</h4>
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<span class="mim-text-font">
<p>In 5 probands with multicentric carpotarsal osteolysis, Zankl et al. (2012) performed whole-exome sequencing followed by quality filtering and identified heterozygosity for missense mutations in the MAFB gene (see, e.g., 608968.0001-608968.0003 and 608968.0005) in all 5 patients. Analysis of MAFB in an additional 6 unrelated simplex cases revealed heterozygosity for missense mutations in all of them (see, e.g., 608968.0003 and 608968.0004). In 2 families with autosomal dominant inheritance of MCTO, Zankl et al. (2012) identified heterozygosity for another missense mutation that segregated with disease in both families (608968.0006). Noting that affected individuals from these 2 families, many of whom were adults, did not manifest renal disease, the authors concluded that MAFB mutations are also responsible for MCTO in the absence of renal disease. </p>
</span>
<div>
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<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Counahan et al. (1976); Thieffry and Sorrel-Dejerine (1958); Tyler
and Rosenbaum (1976)
</span>
<div>
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<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Bennett, W. M., Houghton, D. C., Beals, R. C.
<strong>Nephropathy of idiopathic multicentric osteolysis.</strong>
Nephron 25: 134-138, 1980.
[PubMed: 7360298]
[Full Text: https://doi.org/10.1159/000181769]
</p>
</li>
<li>
<p class="mim-text-font">
Caffey, J. P.
<strong>Idiopathic familial multiple carpal necrosis. Pediatric X-ray Diagnosis. (4th ed.)</strong>
Chicago: Year Book Med. Publ. (pub.) 1961. P. 984.
</p>
</li>
<li>
<p class="mim-text-font">
Carnevale, A., Canun, S., Mendoza, L., del Castillo, V.
<strong>Idiopathic multicentric osteolysis with facial anomalies and nephropathy.</strong>
Am. J. Med. Genet. 26: 877-886, 1987.
[PubMed: 3591830]
[Full Text: https://doi.org/10.1002/ajmg.1320260415]
</p>
</li>
<li>
<p class="mim-text-font">
Counahan, R., Simmons, M. J., Charlwood, G. J.
<strong>Multifocal osteolysis with nephropathy.</strong>
Arch. Dis. Child. 51: 717-719, 1976.
[PubMed: 999328]
[Full Text: https://doi.org/10.1136/adc.51.9.717]
</p>
</li>
<li>
<p class="mim-text-font">
Fryns, J. P.
<strong>Osteolyse essentielle a debut carpien et tarsien.</strong>
J. Genet. Hum. 30 (suppl. 5): 423-428, 1982.
[PubMed: 7183750]
</p>
</li>
<li>
<p class="mim-text-font">
Gluck, J., Miller, J. J., III.
<strong>Familial osteolysis of the carpal and tarsal bones.</strong>
J. Pediat. 81: 506-510, 1972.
[PubMed: 4261959]
[Full Text: https://doi.org/10.1016/s0022-3476(72)80177-x]
</p>
</li>
<li>
<p class="mim-text-font">
Gorham, L. W., Stout, A. P.
<strong>Massive osteolysis (acute spontaneous absorption of bone, phantom bone, disappearing bone): its relation to hemangiomatosis.</strong>
J. Bone Joint Surg. Am. 37: 985-1004, 1955.
[PubMed: 13263344]
</p>
</li>
<li>
<p class="mim-text-font">
Hardegger, F., Simpson, L. A., Segmueller, G.
<strong>The syndrome of idiopathic osteolysis: classification, review, and case report.</strong>
J. Bone Joint Surg. Br. 67: 89-93, 1985.
[PubMed: 3968152]
[Full Text: https://doi.org/10.1302/0301-620X.67B1.3968152]
</p>
</li>
<li>
<p class="mim-text-font">
Kohler, E., Babbitt, D., Huizenga, B., Good, T. A.
<strong>Hereditary osteolysis: a clinical, radiological and chemical study.</strong>
Radiology 108: 99-106, 1973.
[PubMed: 4709054]
[Full Text: https://doi.org/10.1148/108.1.99]
</p>
</li>
<li>
<p class="mim-text-font">
Lagier, R., Rutishauser, E.
<strong>Osteoarticular changes in a case of essential osteolysis.</strong>
J. Bone Joint Surg. Br. 47: 339-353, 1965.
[PubMed: 14302739]
</p>
</li>
<li>
<p class="mim-text-font">
McKusick, V. A.
<strong>Personal Communication.</strong>
Baltimore, Md. 1970.
</p>
</li>
<li>
<p class="mim-text-font">
Pai, G. S., Macpherson, R. I.
<strong>Idiopathic multicentric osteolysis: report of two new cases and a review of the literature.</strong>
Am. J. Med. Genet. 29: 929-936, 1988.
[PubMed: 3041835]
[Full Text: https://doi.org/10.1002/ajmg.1320290425]
</p>
</li>
<li>
<p class="mim-text-font">
Renie, W. A., Pyeritz, R. E.
<strong>Idiopathic multicentric osteolysis in a 78-year-old woman.</strong>
Johns Hopkins Med. J. 148: 165-171, 1981.
[PubMed: 7206409]
</p>
</li>
<li>
<p class="mim-text-font">
Shinohara, O., Kubota, C., Kimura, M., Nishimura, G., Takahashi, S.
<strong>Essential osteolysis associated with nephropathy, corneal opacity, and pulmonary stenosis.</strong>
Am. J. Med. Genet. 41: 482-486, 1991.
[PubMed: 1776642]
[Full Text: https://doi.org/10.1002/ajmg.1320410421]
</p>
</li>
<li>
<p class="mim-text-font">
Shurtleff, D. B., Sparkes, R. S., Clawson, D. K., Guntheroth, W. G., Mottet, N. K.
<strong>Hereditary osteolysis with hypertension and nephropathy.</strong>
JAMA 188: 363-368, 1964.
[PubMed: 14114021]
[Full Text: https://doi.org/10.1001/jama.1964.03060300025005]
</p>
</li>
<li>
<p class="mim-text-font">
Thieffry, S., Sorrel-Dejerine, J.
<strong>Forme speciale d&#x27;osteolyse essentielle hereditaire et familiale a stabilisation spontanee, survenant dans l&#x27;enfance.</strong>
Presse Med. 66: 1858-1861, 1958.
</p>
</li>
<li>
<p class="mim-text-font">
Tookman, A. G., Paice, E. W., White, E. G.
<strong>Idiopathic multicentric osteolysis with acro-osteolysis: a case report.</strong>
J. Bone Joint Surg. Br. 67: 86-88, 1985.
[PubMed: 3968151]
[Full Text: https://doi.org/10.1302/0301-620X.67B1.3968151]
</p>
</li>
<li>
<p class="mim-text-font">
Torg, J. S., DiGeorge, A. M., Kirkpatrick, J. A., Jr., Trujillo, M. M.
<strong>Hereditary multicentric osteolysis with recessive transmission: a new syndrome.</strong>
J. Pediat. 75: 243-252, 1969.
[PubMed: 5795345]
[Full Text: https://doi.org/10.1016/s0022-3476(69)80395-1]
</p>
</li>
<li>
<p class="mim-text-font">
Torg, J. S., Steel, H. H.
<strong>Essential osteolysis with nephropathy: a review of the literature and case report of an unusual syndrome.</strong>
J. Bone Joint Surg. Am. 50: 1629-1638, 1968.
[PubMed: 5722853]
</p>
</li>
<li>
<p class="mim-text-font">
Tyler, T., Rosenbaum, H. D.
<strong>Idiopathic multicentric osteolysis.</strong>
Am. J. Roentgen. 126: 23-31, 1976.
[PubMed: 175680]
[Full Text: https://doi.org/10.2214/ajr.126.1.23]
</p>
</li>
<li>
<p class="mim-text-font">
Urlus, M., Roosen, P., Lammens, J., Victor, J., DeSmet, L., Molenaers, G., Fabry, G.
<strong>Carpo-tarsal osteolysis: case report and review of the literature.</strong>
Genet. Counsel. 4: 25-36, 1993.
[PubMed: 8471218]
</p>
</li>
<li>
<p class="mim-text-font">
Whyte, M. P., Murphy, W. A., Kleerekoper, M., Teitelbaum, S. L., Avioli, L. V.
<strong>Idiopathic multicentric osteolysis: report of an affected father and son.</strong>
Arthritis Rheum. 21: 367-376, 1978.
[PubMed: 646835]
[Full Text: https://doi.org/10.1002/art.1780210313]
</p>
</li>
<li>
<p class="mim-text-font">
Zankl, A., Duncan, E. L., Leo, P. J., Clark, G. R., Glazov, E. A., Addor, M.-C., Herlin, T., Kim, C. A., Leheup. B. P., McGill, J., McTaggart, S., Mittas, S., Mitchell, A. L., Mortier, G. R., Robertson, S. P., Schroeder, M., Terhal, P., Brown, M. A.
<strong>Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.</strong>
Am. J. Hum. Genet. 90: 494-501, 2012. Note: Erratum: Am. J. Hum. Genet. 94: 643 only, 2014.
[PubMed: 22387013]
[Full Text: https://doi.org/10.1016/j.ajhg.2012.01.003]
</p>
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<span class="mim-text-font">
Marla J. F. O&#x27;Neill - updated : 4/11/2012
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Victor A. McKusick : 6/2/1986
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carol : 07/21/2022<br>carol : 06/21/2019<br>carol : 07/09/2016<br>carol : 1/29/2015<br>carol : 4/11/2012<br>terry : 1/13/2011<br>terry : 5/12/2010<br>terry : 12/16/2009<br>terry : 6/3/2009<br>carol : 4/6/2009<br>joanna : 3/18/2004<br>cwells : 11/10/2003<br>carol : 2/22/2002<br>mimadm : 1/14/1995<br>davew : 8/19/1994<br>jason : 6/10/1994<br>warfield : 4/12/1994<br>supermim : 3/16/1992<br>carol : 3/8/1992
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