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Entry
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- #253250 - MULIBREY NANISM; MUL
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- OMIM
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<p>
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<span class="h4">#253250</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="/clinicalSynopsis/253250"><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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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=MULIBREY NANISM" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2376&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/4925" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=253250[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2576" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/8948b58f-36f9-4566-b4e0-903b9dbdbef0/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0050436" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/253250" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:253250" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 81604003<br />
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<strong>ORPHA:</strong> 2576<br />
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<strong>DO:</strong> 0050436<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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253250
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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MULIBREY NANISM; MUL
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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MUSCLE-LIVER-BRAIN-EYE NANISM<br />
|
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PERICARDIAL CONSTRICTION AND GROWTH FAILURE<br />
|
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PERHEENTUPA SYNDROME
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/17/794?start=-3&limit=10&highlight=794">
|
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17q22
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Mulibrey nanism
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/253250"> 253250 </a>
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
TRIM37
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605073"> 605073 </a>
|
|
</span>
|
|
</td>
|
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</tr>
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</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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<div>
|
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|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/253250" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
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|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/253250" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/253250" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature, prenatal onset <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854706</a>]</span><br /> -
|
|
Adult male height 136-161 cm <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854707&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854707</a>]</span><br /> -
|
|
Adult female height 126-151 cm <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854708</a>]</span><br /> -
|
|
Birth length 1.5-2 S.D. below mean <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854709&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854709</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Weight </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Birth weight 1.5-2 S.D. below mean <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854710&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854710</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</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> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dolichocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72239002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72239002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221358&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221358</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000268</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000268</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=b49d4ad3bcb5a39e5263c4f1d7454a3e" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Dolichocephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=b49d4ad3bcb5a39e5263c4f1d7454a3e" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Triangular face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835884</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000325</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000325</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9b3a4310d8279245cf752e39c5608ddf" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Face,Triangular-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9b3a4310d8279245cf752e39c5608ddf" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Frontal bossing <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90145001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90145001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221354</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Frontal_Bossing-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><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">
|
|
|
|
- Mild hypertelorism <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854711&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854711</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Yellowish dots in fundi <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854712&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854712</a>]</span><br /> -
|
|
Decreased retinal pigmentation with dispersion <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854713&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854713</a>]</span><br /> -
|
|
Hypoplasia of choroid <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95491001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95491001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521564&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521564</a>]</span><br /> -
|
|
Astigmatism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/82649003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">82649003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H52.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H52.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H52.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H52.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/367.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">367.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/367.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">367.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004106&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004106</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000483" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000483</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000483" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000483</a>]</span><br /> -
|
|
Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Deep, broad nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854715&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854715</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Relatively small tongue <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854716&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854716</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dental crowding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12351004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12351004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040433&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040433</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000678</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000678</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bc1fcb988aa10dd9d5f3774c342364a9" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Dental_Crowding-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bc1fcb988aa10dd9d5f3774c342364a9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Hypodontia of second bicuspid <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854717&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854717</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pericardial constriction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240709&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240709</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005132" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005132</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005132" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005132</a>]</span><br /> -
|
|
Globular shaped heart on x-ray <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673356&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673356</a>]</span><br /> -
|
|
Congestive heart failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42343007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42343007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I50.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/428.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018802&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018802</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span><br /> -
|
|
Myocardial fibrosis <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I51.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I51.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151654&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151654</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001685" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001685</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001685" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001685</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Elevated venous pressure <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854724&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854724</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</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">
|
|
|
|
- Normal bone age <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/123981005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">123981005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1276343&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1276343</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skull </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- J-shaped sella turcica <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854718&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854718</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002680</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002680</a>]</span><br /> -
|
|
Absent or small frontal sinus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550580&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550580</a>]</span><br /> -
|
|
Absent or small sphenoidal sinus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550581</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Fibrous dysplasia (especially tibia) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854721&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854721</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/789439000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">789439000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/10623005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">10623005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M27.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M27.8</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cutaneous nevi flammei (limbs) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854722&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854722</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">
|
|
|
|
- Muscular hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Large cerebral ventricles and cisternae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278923</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span><br /> -
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- Caused by mutation in the tripartite motif-containing 37 gene (TRIM37, <a href="/entry/605073#0001">605073.0001</a>)<br />
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<p>A number sign (#) is used with this entry because mulibrey (MUscle, LIver, BRain, and EYes) nanism ('dwarfism') (MUL) is caused by homozygous or compound heterozygous mutation in the TRIM37 gene (<a href="/entry/605073">605073</a>), which encodes a peroxisomal protein, on chromosome 17q22.</p>
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<p>Mulibrey nanism (MUL) is a rare autosomal recessive growth disorder with prenatal onset, including occasional progressive cardiomyopathy, characteristic facial features, failure of sexual maturation, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor (summary by <a href="#6" class="mim-tip-reference" title="Hamalainen, R. H., Mowat, D., Gabbett, M. T., O'Brien, T. A., Kallijarvi, J., Lehesjoki, A.-E. <strong>Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism.</strong> Clin. Genet. 70: 473-479, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17100991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17100991</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00700.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17100991">Hamalainen et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17100991" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#14" class="mim-tip-reference" title="Perheentupa, J., Autio, S., Leisti, S., Raitta, C., Tuuteri, L. <strong>Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction.</strong> Lancet 302: 351-355, 1973. Note: Originally Volume 2.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4124529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4124529</a>] [<a href="https://doi.org/10.1016/s0140-6736(73)93193-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4124529">Perheentupa et al. (1973)</a> first described and named this disorder in 23 patients in Finland, including 3 pairs of affected sibs born of consanguineous parents. Growth failure was evident at birth and was progressive. The patients had a characteristic triangular face often with hydrocephaloid skull, gracility and muscular hypotonia, peculiar voice, enlarged liver, raised venous pressure due to pericardial constriction, and yellowish dots and pigment dispersion in the ocular fundi. Two-thirds of the patients had cutaneous nevi flammei and one-third had cystic dysplasia of the tibia. The geographic accumulation of cases in a sparsely settled region of Finland and the observation of parental consanguinity in some cases supported autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4124529" 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="#17" class="mim-tip-reference" title="Thoren, C. <strong>So-called mulibrey nanism with pericardial constriction (Letter)</strong> Lancet 302: 731 only, 1973. Note: Originally Volume 2.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4125809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4125809</a>] [<a href="https://doi.org/10.1016/s0140-6736(73)92557-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4125809">Thoren (1973)</a> described an Egyptian patient. <a href="#5" class="mim-tip-reference" title="Cumming, G. R., Kerr, D., Ferguson, C. C. <strong>Constrictive pericarditis with dwarfism in two siblings (mulibrey nanism).</strong> J. Pediat. 88: 569-572, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1255313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1255313</a>] [<a href="https://doi.org/10.1016/s0022-3476(76)80008-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1255313">Cumming et al. (1976)</a> reported affected sibs living in Canada. <a href="#19" class="mim-tip-reference" title="Voorhess, M. L., Husson, G. S., Blackman, M. S. <strong>Growth failure with pericardial constriction: the syndrome of mulibrey nanism.</strong> Am. J. Dis. Child. 130: 1146-1148, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/135512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">135512</a>] [<a href="https://doi.org/10.1001/archpedi.1976.02120110108017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="135512">Voorhess et al. (1976)</a> reported the first affected child from the United States whose parents were second cousins. In a review of published cases, the authors identified other clinical features, including fibrous dysplasia of the tibia in 7 of 25, hypoplasia of the choroid in 11 of 11, yellowish dots and pigment dispersion in the ocular fundi in 23 of 25, long shallow sella turcica in 25 of 26, muscular hypotonia in 20 of 25, small voice and triangular face in all, and low birth weight and length in most. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1255313+4125809+135512" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Haraldsson, A., van der Burgt, C. J. A. M., Weemaes, C. M. R., Otten, B., Bakkeren, J. A. J. M., Stoelinga, G. B. A. <strong>Antibody deficiency and isolated growth hormone deficiency in a girl with mulibrey nanism.</strong> Europ. J. Pediat. 152: 509-512, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8335020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8335020</a>] [<a href="https://doi.org/10.1007/BF01955061" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8335020">Haraldsson et al. (1993)</a> found both immunoglobulin deficiency and isolated growth hormone (GH1; <a href="/entry/139250">139250</a>) deficiency in a 6.7-year-old girl with constrictive pericarditis, pigmentary retinopathy, and other features of mulibrey nanism. Therapy with human growth hormone resulted in increased growth velocity but did not improve humoral immune functions. <a href="#11" class="mim-tip-reference" title="Lapunzina, P., Rodriguez, J. I., de Matteo, E., Gracia, R., Moreno, F. <strong>Mulibrey nanism: three additional patients and a review of 39 patients.</strong> Am. J. Med. Genet. 55: 349-355, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7726235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7726235</a>] [<a href="https://doi.org/10.1002/ajmg.1320550320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7726235">Lapunzina et al. (1995)</a> reported 2 affected sibs from Argentina and another patient from Spain. All 3 had growth failure, short stature, abnormal pigmentary retinal changes, and a J-shaped sella turcica. Two had pericardial constriction. Pericardiectomy was performed in 1 patient at the age of 23 months with good results. The authors also reviewed the findings in 39 reported patients and grouped the anomalies into the very frequent (present in more than 66%), frequent (in at least 25%), and not frequent. <a href="#3" class="mim-tip-reference" title="Balg, S., Stengel-Rutkowski, S., Dohlemann, C., Boergen, K. <strong>Mulibrey nanism.</strong> Clin. Dysmorph. 4: 63-69, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7735507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7735507</a>]" pmid="7735507">Balg et al. (1995)</a> reported a boy who had typical manifestations as well as hypoplastic corpus callosum and a localized intraretinal fibrosis of the left eye. He also had hepatomegaly; constrictive pericarditis was discovered only after mulibrey nanism was diagnosed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8335020+7735507+7726235" 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="Jagiello, P., Hammans, C., Wieczorek, S., Arning, L., Stefanski, A., Strehl, H., Epplen, J. T., Gencik, M. <strong>A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity.</strong> Hum. Mutat. 21: 630-635, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12754710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12754710</a>] [<a href="https://doi.org/10.1002/humu.10220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12754710">Jagiello et al. (2003)</a> reported a Turkish family in Germany in which 3 sibs, a boy and 2 girls, had mulibrey nanism. The parents were said not to be related but originated from small neighboring villages in Turkey. A 12-year-old girl was mentally retarded and had a high-pitched voice. She had obvious craniofacial dysmorphism, including a large skull with broad forehead, hypertelorism with broad nasal bridge, high palate, microgenia, and deep set ears. She had proportionate growth reduction and hypotonia of the trunk. Other symptoms included moderate adiposity, acanthosis nigricans, various hemangiomas, insulin-resistant diabetes mellitus, hepatosplenomegaly, liver cirrhosis, fibrosis of the lung, and cardiomyopathy. The 21-year-old affected brother had disproportionate growth reduction, mental retardation, moderate adiposity, acanthosis nigricans, signs of 'diabetic metabolism,' hypogonadotropic hypogonadism, and isolated fibroma of the tibia. The 17-year-old sister displayed similar symptoms as her sibs, but had no signs of mental retardation, indicating a milder phenotype. None of the sibs showed pronounced muscular hypotonia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12754710" 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="Karlberg, N., Jalanko, H., Perheentupa, J., Lipsanen-Nyman, M. <strong>Mulibrey nanism: clinical features and diagnostic criteria.</strong> J. Med. Genet. 41: 92-98, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14757854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14757854</a>] [<a href="https://doi.org/10.1136/jmg.2003.014118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14757854">Karlberg et al. (2004)</a> reviewed the clinical characteristics of the 85 known Finnish patients with mulibrey nanism, most of whom were homozygous for the major Finnish TRIM37 mutation (<a href="/entry/605073#0001">605073.0001</a>), and proposed revised diagnostic criteria for the disorder. The authors suggested that the diagnosis should be considered in infants born small for gestational age who have poor weight gain postnatally, hepatomegaly, and characteristic craniofacial features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14757854" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Karlberg, S., Tiitinen, A., Lipsanen-Nyman, M. <strong>Failure of sexual maturation in mulibrey nanism. (Letter)</strong> New Eng. J. Med. 351: 2559-2560, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15590968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15590968</a>] [<a href="https://doi.org/10.1056/NEJM200412093512423" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15590968">Karlberg et al. (2004)</a> stated that approximately 110 patients with mulibrey nanism had been described worldwide, of whom 85 were Finnish. They reviewed the hospital and autopsy reports of the 22 Finnish female postpubertal patients with the disorder; they found an association between the disorder and both premature ovarian failure and fibrothecomas (ovarian stromal tumors). Their study indicated that hypergonadotropic premature ovarian failure with spontaneous puberty, incomplete breast development, and early irregularity of menstrual periods with subsequent ovarian failure and infertility ultimately develops in female patients with mulibrey nanism. Furthermore, such patients are at a very high risk for ovarian fibrothecoma. <a href="#10" class="mim-tip-reference" title="Karlberg, S., Tiitinen, A., Lipsanen-Nyman, M. <strong>Failure of sexual maturation in mulibrey nanism. (Letter)</strong> New Eng. J. Med. 351: 2559-2560, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15590968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15590968</a>] [<a href="https://doi.org/10.1056/NEJM200412093512423" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15590968">Karlberg et al. (2004)</a> concluded that TRIM37 is a putative tumor suppressor gene for ovarian stromal cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15590968" 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="Hamalainen, R. H., Mowat, D., Gabbett, M. T., O'Brien, T. A., Kallijarvi, J., Lehesjoki, A.-E. <strong>Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism.</strong> Clin. Genet. 70: 473-479, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17100991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17100991</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00700.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17100991">Hamalainen et al. (2006)</a> reported an Australian girl with mulibrey nanism. She first presented at age 10 months with short stature and facial dysmorphism, including dolichocephaly, high broad forehead, low depressed nasal bridge, and small pointed chin. Skeletal survey showed slender long bones with overtubulation and J-shaped sella turcica. Developmental milestones were age-appropriate. Initial diagnostic considerations included 3M syndrome (<a href="/entry/273750">273750</a>) and Silver-Russell syndrome (SRS; <a href="/entry/180860">180860</a>). At age 18 months, she presented with abdominal distention and a large Wilms tumor, which led to the diagnosis of mulibrey nanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17100991" 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="#4" class="mim-tip-reference" title="Bruzzaniti, S., Cirillo, E., Prencipe, R., Giardino, G., Lepore, M. T., Garziano, F., Perna, F., Procaccini, C., Mascolo, L., Pagano, C., Fattorusso, V., Mozzillo, E., Bifulco, M., Matarese, G., Franzese, A., Pignata, C., Galgani, M. <strong>CD4+ T cell defects in a mulibrey patient with specific TRIM37 mutations.</strong> Front. Immun. 11: 1742, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33042106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33042106</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33042106[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.3389/fimmu.2020.01742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33042106">Bruzzaniti et al. (2020)</a> reported an 11-year-old boy with intrauterine growth retardation, facial dysmorphisms, relative macrocephaly, and severe postnatal growth retardation. An echocardiogram at 8 years of age showed an atrial septal defect, atrial dilation, and constrictive pericarditis. He also developed severe spleen and liver enlargement with steatosis and cystic lesions. Laboratory studies showed elevated liver enzymes and GGT. Brain MRI showed hypoplasia of the adenohypophysis, mega cisterna magna, arachnoid cyst of the right temporal lobe, and syringomelia. At 8.5 years of age he developed interstitial lung disease. The patient had a selective reduction in CD4+ T cells, which were unable to proliferate in response to T-cell receptor stimulation but were more sensitive to homeostatic stimuli. Both CD4+ and CD8+ cells from the patient showed a terminally differentiated phenotype compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33042106" 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>By linkage analysis in affected Finnish families, <a href="#2" class="mim-tip-reference" title="Avela, K., Lipsanen-Nyman, M., Perheentupa, J., Wallgren-Pettersson, C., Marchand, S., Faure, S., Sistonen, P., de la Chapelle, A., Lehesjoki, A.-E. <strong>Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis.</strong> Am. J. Hum. Genet. 60: 896-902, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9106536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9106536</a>]" pmid="9106536">Avela et al. (1997)</a> identified a 7-cM candidate region on chromosome 17q flanked by D17S1799 and D17S948 (maximum multipoint lod score of 5.01). Linkage disequilibrium analysis narrowed the critical disease region within approximately 250 kb of marker D17S1853. Because patients with mulibrey nanism commonly have hypoplasia of various endocrine glands and hormone deficiencies, <a href="#2" class="mim-tip-reference" title="Avela, K., Lipsanen-Nyman, M., Perheentupa, J., Wallgren-Pettersson, C., Marchand, S., Faure, S., Sistonen, P., de la Chapelle, A., Lehesjoki, A.-E. <strong>Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis.</strong> Am. J. Hum. Genet. 60: 896-902, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9106536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9106536</a>]" pmid="9106536">Avela et al. (1997)</a> analyzed a microsatellite-repeat polymorphism at the growth hormone locus (GH1; <a href="/entry/139250">139250</a>). Recombination in 1 family excluded it as a candidate gene. Likewise, the homeobox B cluster was excluded by the absence of linkage disequilibrium with a microsatellite-repeat marker at HOX2B (<a href="/entry/142961">142961</a>). <a href="#2" class="mim-tip-reference" title="Avela, K., Lipsanen-Nyman, M., Perheentupa, J., Wallgren-Pettersson, C., Marchand, S., Faure, S., Sistonen, P., de la Chapelle, A., Lehesjoki, A.-E. <strong>Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis.</strong> Am. J. Hum. Genet. 60: 896-902, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9106536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9106536</a>]" pmid="9106536">Avela et al. (1997)</a> concluded that the most likely physical location of the markers linked to the MUL locus was 17q21-q24. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9106536" 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="#13" class="mim-tip-reference" title="Paavola, P., Avela, K., Horelli-Kuitunen, N., Barlund, M., Kallioniemi, A., Idanheimo, N., Kyttala, M., de la Chapelle, A., Palotie, A., Lehesjoki, A.-E., Peltonen, L. <strong>High-resolution physical and genetic mapping of the critical region for Meckel syndrome and mulibrey nanism on chromosome 17q22-q23.</strong> Genome Res. 9: 267-276, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10077533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10077533</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10077533[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="10077533">Paavola et al. (1999)</a> studied the location of the genes for Meckel syndrome (MKS1; <a href="/entry/249000">249000</a>) and mulibrey nanism, which had been mapped to the same region, 17q21-q24. They constructed a bacterial clone contig over the critical region for both disorders. Several novel CA-repeat markers were isolated from these clones, which allowed refined mapping of the MKS and MUL loci using haplotype and linkage disequilibrium analysis. The localization of the MKS locus was narrowed and the entire MKS region was found to fall within the MUL region. However, in the common critical region, the conserved haplotypes were different in Meckel syndrome and mulibrey nanism patients. A transcript map was constructed by assigning ESTs and genes, derived from the human gene map, to the bacterial clone contig. Altogether, 4 genes and a total of 20 ESTs were precisely localized. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10077533" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of MUL in the families reported by <a href="#1" class="mim-tip-reference" title="Avela, K., Lipsanen-Nyman, M., Idanheimo, N., Seemanova, E., Rosengren, S., Makela, T. P., Perheentupa, J., de la Chapelle, A., Lehesjoki, A.-E. <strong>Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism.</strong> Nature Genet. 25: 298-301, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10888877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10888877</a>] [<a href="https://doi.org/10.1038/77053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10888877">Avela et al. (2000)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10888877" 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>By positional cloning, <a href="#1" class="mim-tip-reference" title="Avela, K., Lipsanen-Nyman, M., Idanheimo, N., Seemanova, E., Rosengren, S., Makela, T. P., Perheentupa, J., de la Chapelle, A., Lehesjoki, A.-E. <strong>Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism.</strong> Nature Genet. 25: 298-301, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10888877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10888877</a>] [<a href="https://doi.org/10.1038/77053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10888877">Avela et al. (2000)</a> identified the TRIM37 gene and found 4 independent mulibrey nanism-associated mutations (<a href="/entry/605073#0001">605073.0001</a>-<a href="/entry/605073#0004">605073.0004</a>). A 5-bp deletion (<a href="/entry/605073#0001">605073.0001</a>) was found to be the major Finnish mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10888877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Turkish family studied in Germany, <a href="#8" class="mim-tip-reference" title="Jagiello, P., Hammans, C., Wieczorek, S., Arning, L., Stefanski, A., Strehl, H., Epplen, J. T., Gencik, M. <strong>A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity.</strong> Hum. Mutat. 21: 630-635, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12754710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12754710</a>] [<a href="https://doi.org/10.1002/humu.10220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12754710">Jagiello et al. (2003)</a> found that mulibrey nanism cosegregated with a mutation in the TRIM37 gene (<a href="/entry/605073#0005">605073.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12754710" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an Australian girl with MUL, <a href="#6" class="mim-tip-reference" title="Hamalainen, R. H., Mowat, D., Gabbett, M. T., O'Brien, T. A., Kallijarvi, J., Lehesjoki, A.-E. <strong>Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism.</strong> Clin. Genet. 70: 473-479, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17100991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17100991</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00700.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17100991">Hamalainen et al. (2006)</a> identified compound heterozygosity for 2 mutations in the TRIM37 gene (<a href="/entry/605073#0006">605073.0006</a> and <a href="/entry/605073#0007">605073.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17100991" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an 11-year-old boy with MUL, <a href="#4" class="mim-tip-reference" title="Bruzzaniti, S., Cirillo, E., Prencipe, R., Giardino, G., Lepore, M. T., Garziano, F., Perna, F., Procaccini, C., Mascolo, L., Pagano, C., Fattorusso, V., Mozzillo, E., Bifulco, M., Matarese, G., Franzese, A., Pignata, C., Galgani, M. <strong>CD4+ T cell defects in a mulibrey patient with specific TRIM37 mutations.</strong> Front. Immun. 11: 1742, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33042106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33042106</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33042106[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.3389/fimmu.2020.01742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33042106">Bruzzaniti et al. (2020)</a> identified a splice mutation in the TRIM37 gene inherited from the father (<a href="/entry/605073#0008">605073.0008</a>) and a 17q22 deletion involving a region including the TRIM37 gene inherited from the mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33042106" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Myllarniemi1978" class="mim-tip-reference" title="Myllarniemi, S., Koski, K., Perheentupa, J. <strong>Craniofacial and dental study of mulibrey nanism.</strong> Cleft Palate J. 15: 369-377, 1978.">Myllarniemi et al. (1978)</a>; <a href="#Perheentupa1980" class="mim-tip-reference" title="Perheentupa, J. <strong>Mulibrey nanism.In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K. : Population Structure and Genetic Disorders.</strong> New York: Academic Press (pub.) 1980. Pp. 641-646.">Perheentupa (1980)</a>; <a href="#Simila1980" class="mim-tip-reference" title="Simila, S., Timonen, M., Heikkinen, E. <strong>A case of mulibrey nanism with associated Wilms's tumor.</strong> Clin. Genet. 17: 29-30, 1980.">Simila et al. (1980)</a>; <a href="#Tuuteri1974" class="mim-tip-reference" title="Tuuteri, L., Perheentupa, J., Rapola, J. <strong>The cardiopathy of mulibrey nanism, a new inherited syndrome.</strong> Chest 65: 628-631, 1974.">Tuuteri et al. (1974)</a>
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<strong>REFERENCES</strong>
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|
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|
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<li>
|
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<a id="1" class="mim-anchor"></a>
|
|
<a id="Avela2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Avela, K., Lipsanen-Nyman, M., Idanheimo, N., Seemanova, E., Rosengren, S., Makela, T. P., Perheentupa, J., de la Chapelle, A., Lehesjoki, A.-E.
|
|
<strong>Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism.</strong>
|
|
Nature Genet. 25: 298-301, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10888877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10888877</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10888877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/77053" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Avela1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Avela, K., Lipsanen-Nyman, M., Perheentupa, J., Wallgren-Pettersson, C., Marchand, S., Faure, S., Sistonen, P., de la Chapelle, A., Lehesjoki, A.-E.
|
|
<strong>Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis.</strong>
|
|
Am. J. Hum. Genet. 60: 896-902, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9106536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9106536</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9106536" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Balg1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Balg, S., Stengel-Rutkowski, S., Dohlemann, C., Boergen, K.
|
|
<strong>Mulibrey nanism.</strong>
|
|
Clin. Dysmorph. 4: 63-69, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7735507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7735507</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7735507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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|
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</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Bruzzaniti2020" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bruzzaniti, S., Cirillo, E., Prencipe, R., Giardino, G., Lepore, M. T., Garziano, F., Perna, F., Procaccini, C., Mascolo, L., Pagano, C., Fattorusso, V., Mozzillo, E., Bifulco, M., Matarese, G., Franzese, A., Pignata, C., Galgani, M.
|
|
<strong>CD4+ T cell defects in a mulibrey patient with specific TRIM37 mutations.</strong>
|
|
Front. Immun. 11: 1742, 2020.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33042106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33042106</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33042106[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=33042106" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
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[<a href="https://doi.org/10.3389/fimmu.2020.01742" target="_blank">Full Text</a>]
|
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</p>
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Cumming1976" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cumming, G. R., Kerr, D., Ferguson, C. C.
|
|
<strong>Constrictive pericarditis with dwarfism in two siblings (mulibrey nanism).</strong>
|
|
J. Pediat. 88: 569-572, 1976.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1255313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1255313</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1255313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
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[<a href="https://doi.org/10.1016/s0022-3476(76)80008-x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Hamalainen2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hamalainen, R. H., Mowat, D., Gabbett, M. T., O'Brien, T. A., Kallijarvi, J., Lehesjoki, A.-E.
|
|
<strong>Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism.</strong>
|
|
Clin. Genet. 70: 473-479, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17100991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17100991</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17100991" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
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|
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|
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[<a href="https://doi.org/10.1111/j.1399-0004.2006.00700.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Haraldsson1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Haraldsson, A., van der Burgt, C. J. A. M., Weemaes, C. M. R., Otten, B., Bakkeren, J. A. J. M., Stoelinga, G. B. A.
|
|
<strong>Antibody deficiency and isolated growth hormone deficiency in a girl with mulibrey nanism.</strong>
|
|
Europ. J. Pediat. 152: 509-512, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8335020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8335020</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8335020" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF01955061" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Jagiello2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jagiello, P., Hammans, C., Wieczorek, S., Arning, L., Stefanski, A., Strehl, H., Epplen, J. T., Gencik, M.
|
|
<strong>A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity.</strong>
|
|
Hum. Mutat. 21: 630-635, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12754710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12754710</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12754710" 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/humu.10220" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Karlberg2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Karlberg, N., Jalanko, H., Perheentupa, J., Lipsanen-Nyman, M.
|
|
<strong>Mulibrey nanism: clinical features and diagnostic criteria.</strong>
|
|
J. Med. Genet. 41: 92-98, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14757854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14757854</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14757854" 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/jmg.2003.014118" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Karlberg2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Karlberg, S., Tiitinen, A., Lipsanen-Nyman, M.
|
|
<strong>Failure of sexual maturation in mulibrey nanism. (Letter)</strong>
|
|
New Eng. J. Med. 351: 2559-2560, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15590968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15590968</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15590968" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM200412093512423" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Lapunzina1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lapunzina, P., Rodriguez, J. I., de Matteo, E., Gracia, R., Moreno, F.
|
|
<strong>Mulibrey nanism: three additional patients and a review of 39 patients.</strong>
|
|
Am. J. Med. Genet. 55: 349-355, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7726235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7726235</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7726235" 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.1320550320" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Myllarniemi1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Myllarniemi, S., Koski, K., Perheentupa, J.
|
|
<strong>Craniofacial and dental study of mulibrey nanism.</strong>
|
|
Cleft Palate J. 15: 369-377, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/281281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">281281</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=281281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
|
|
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|
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</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Paavola1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Paavola, P., Avela, K., Horelli-Kuitunen, N., Barlund, M., Kallioniemi, A., Idanheimo, N., Kyttala, M., de la Chapelle, A., Palotie, A., Lehesjoki, A.-E., Peltonen, L.
|
|
<strong>High-resolution physical and genetic mapping of the critical region for Meckel syndrome and mulibrey nanism on chromosome 17q22-q23.</strong>
|
|
Genome Res. 9: 267-276, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10077533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10077533</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10077533[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=10077533" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
|
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</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Perheentupa1973" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Perheentupa, J., Autio, S., Leisti, S., Raitta, C., Tuuteri, L.
|
|
<strong>Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction.</strong>
|
|
Lancet 302: 351-355, 1973. Note: Originally Volume 2.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4124529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4124529</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4124529" 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/s0140-6736(73)93193-0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Perheentupa1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Perheentupa, J.
|
|
<strong>Mulibrey nanism.In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K. : Population Structure and Genetic Disorders.</strong>
|
|
New York: Academic Press (pub.) 1980. Pp. 641-646.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Simila1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Simila, S., Timonen, M., Heikkinen, E.
|
|
<strong>A case of mulibrey nanism with associated Wilms's tumor.</strong>
|
|
Clin. Genet. 17: 29-30, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6248277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6248277</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6248277" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1980.tb00109.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Thoren1973" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Thoren, C.
|
|
<strong>So-called mulibrey nanism with pericardial constriction (Letter)</strong>
|
|
Lancet 302: 731 only, 1973. Note: Originally Volume 2.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4125809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4125809</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4125809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
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[<a href="https://doi.org/10.1016/s0140-6736(73)92557-9" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
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Tuuteri, L., Perheentupa, J., Rapola, J.
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<strong>The cardiopathy of mulibrey nanism, a new inherited syndrome.</strong>
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Chest 65: 628-631, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4275521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4275521</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4275521" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1378/chest.65.6.628" target="_blank">Full Text</a>]
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Voorhess, M. L., Husson, G. S., Blackman, M. S.
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<strong>Growth failure with pericardial constriction: the syndrome of mulibrey nanism.</strong>
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Am. J. Dis. Child. 130: 1146-1148, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/135512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">135512</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=135512" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archpedi.1976.02120110108017" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 05/14/2021
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Cassandra L. Kniffin - updated : 5/7/2007<br>Victor A. McKusick - updated : 12/29/2004<br>Marla J. F. O'Neill - updated : 9/20/2004<br>Victor A. McKusick - updated : 7/16/2003<br>Victor A. McKusick - updated : 6/23/2000<br>Victor A. McKusick - updated : 4/28/1999<br>Victor A. McKusick - updated : 6/12/1997<br>Iosif W. Lurie - updated : 9/19/1996
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Creation Date:
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Victor A. McKusick : 6/4/1986
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carol : 02/02/2024
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carol : 01/31/2024<br>carol : 05/17/2021<br>carol : 05/14/2021<br>carol : 04/29/2021<br>carol : 12/30/2013<br>wwang : 4/16/2009<br>terry : 4/9/2009<br>wwang : 5/29/2007<br>ckniffin : 5/7/2007<br>ckniffin : 5/7/2007<br>tkritzer : 1/11/2005<br>terry : 12/29/2004<br>tkritzer : 9/20/2004<br>terry : 3/18/2004<br>cwells : 7/16/2003<br>carol : 11/27/2001<br>mcapotos : 7/20/2001<br>alopez : 6/23/2000<br>alopez : 6/23/2000<br>carol : 6/23/2000<br>alopez : 5/10/1999<br>terry : 4/28/1999<br>jenny : 7/9/1997<br>mark : 6/16/1997<br>terry : 6/12/1997<br>carol : 9/19/1996<br>mimman : 2/8/1996<br>mark : 12/6/1995<br>mark : 3/23/1995<br>carol : 7/15/1993<br>supermim : 3/17/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988
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<strong>#</strong> 253250
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MULIBREY NANISM; MUL
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MUSCLE-LIVER-BRAIN-EYE NANISM<br />
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PERICARDIAL CONSTRICTION AND GROWTH FAILURE<br />
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PERHEENTUPA SYNDROME
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<strong>SNOMEDCT:</strong> 81604003;
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<strong>ORPHA:</strong> 2576;
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<strong>DO:</strong> 0050436;
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Phenotype
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Inheritance
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17q22
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Mulibrey nanism
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253250
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Autosomal recessive
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3
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TRIM37
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605073
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<p>A number sign (#) is used with this entry because mulibrey (MUscle, LIver, BRain, and EYes) nanism ('dwarfism') (MUL) is caused by homozygous or compound heterozygous mutation in the TRIM37 gene (605073), which encodes a peroxisomal protein, on chromosome 17q22.</p>
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<strong>Description</strong>
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<p>Mulibrey nanism (MUL) is a rare autosomal recessive growth disorder with prenatal onset, including occasional progressive cardiomyopathy, characteristic facial features, failure of sexual maturation, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor (summary by Hamalainen et al., 2006). </p>
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<strong>Clinical Features</strong>
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<p>Perheentupa et al. (1973) first described and named this disorder in 23 patients in Finland, including 3 pairs of affected sibs born of consanguineous parents. Growth failure was evident at birth and was progressive. The patients had a characteristic triangular face often with hydrocephaloid skull, gracility and muscular hypotonia, peculiar voice, enlarged liver, raised venous pressure due to pericardial constriction, and yellowish dots and pigment dispersion in the ocular fundi. Two-thirds of the patients had cutaneous nevi flammei and one-third had cystic dysplasia of the tibia. The geographic accumulation of cases in a sparsely settled region of Finland and the observation of parental consanguinity in some cases supported autosomal recessive inheritance. </p><p>Thoren (1973) described an Egyptian patient. Cumming et al. (1976) reported affected sibs living in Canada. Voorhess et al. (1976) reported the first affected child from the United States whose parents were second cousins. In a review of published cases, the authors identified other clinical features, including fibrous dysplasia of the tibia in 7 of 25, hypoplasia of the choroid in 11 of 11, yellowish dots and pigment dispersion in the ocular fundi in 23 of 25, long shallow sella turcica in 25 of 26, muscular hypotonia in 20 of 25, small voice and triangular face in all, and low birth weight and length in most. </p><p>Haraldsson et al. (1993) found both immunoglobulin deficiency and isolated growth hormone (GH1; 139250) deficiency in a 6.7-year-old girl with constrictive pericarditis, pigmentary retinopathy, and other features of mulibrey nanism. Therapy with human growth hormone resulted in increased growth velocity but did not improve humoral immune functions. Lapunzina et al. (1995) reported 2 affected sibs from Argentina and another patient from Spain. All 3 had growth failure, short stature, abnormal pigmentary retinal changes, and a J-shaped sella turcica. Two had pericardial constriction. Pericardiectomy was performed in 1 patient at the age of 23 months with good results. The authors also reviewed the findings in 39 reported patients and grouped the anomalies into the very frequent (present in more than 66%), frequent (in at least 25%), and not frequent. Balg et al. (1995) reported a boy who had typical manifestations as well as hypoplastic corpus callosum and a localized intraretinal fibrosis of the left eye. He also had hepatomegaly; constrictive pericarditis was discovered only after mulibrey nanism was diagnosed. </p><p>Jagiello et al. (2003) reported a Turkish family in Germany in which 3 sibs, a boy and 2 girls, had mulibrey nanism. The parents were said not to be related but originated from small neighboring villages in Turkey. A 12-year-old girl was mentally retarded and had a high-pitched voice. She had obvious craniofacial dysmorphism, including a large skull with broad forehead, hypertelorism with broad nasal bridge, high palate, microgenia, and deep set ears. She had proportionate growth reduction and hypotonia of the trunk. Other symptoms included moderate adiposity, acanthosis nigricans, various hemangiomas, insulin-resistant diabetes mellitus, hepatosplenomegaly, liver cirrhosis, fibrosis of the lung, and cardiomyopathy. The 21-year-old affected brother had disproportionate growth reduction, mental retardation, moderate adiposity, acanthosis nigricans, signs of 'diabetic metabolism,' hypogonadotropic hypogonadism, and isolated fibroma of the tibia. The 17-year-old sister displayed similar symptoms as her sibs, but had no signs of mental retardation, indicating a milder phenotype. None of the sibs showed pronounced muscular hypotonia. </p><p>Karlberg et al. (2004) reviewed the clinical characteristics of the 85 known Finnish patients with mulibrey nanism, most of whom were homozygous for the major Finnish TRIM37 mutation (605073.0001), and proposed revised diagnostic criteria for the disorder. The authors suggested that the diagnosis should be considered in infants born small for gestational age who have poor weight gain postnatally, hepatomegaly, and characteristic craniofacial features. </p><p>Karlberg et al. (2004) stated that approximately 110 patients with mulibrey nanism had been described worldwide, of whom 85 were Finnish. They reviewed the hospital and autopsy reports of the 22 Finnish female postpubertal patients with the disorder; they found an association between the disorder and both premature ovarian failure and fibrothecomas (ovarian stromal tumors). Their study indicated that hypergonadotropic premature ovarian failure with spontaneous puberty, incomplete breast development, and early irregularity of menstrual periods with subsequent ovarian failure and infertility ultimately develops in female patients with mulibrey nanism. Furthermore, such patients are at a very high risk for ovarian fibrothecoma. Karlberg et al. (2004) concluded that TRIM37 is a putative tumor suppressor gene for ovarian stromal cells. </p><p>Hamalainen et al. (2006) reported an Australian girl with mulibrey nanism. She first presented at age 10 months with short stature and facial dysmorphism, including dolichocephaly, high broad forehead, low depressed nasal bridge, and small pointed chin. Skeletal survey showed slender long bones with overtubulation and J-shaped sella turcica. Developmental milestones were age-appropriate. Initial diagnostic considerations included 3M syndrome (273750) and Silver-Russell syndrome (SRS; 180860). At age 18 months, she presented with abdominal distention and a large Wilms tumor, which led to the diagnosis of mulibrey nanism. </p><p>Bruzzaniti et al. (2020) reported an 11-year-old boy with intrauterine growth retardation, facial dysmorphisms, relative macrocephaly, and severe postnatal growth retardation. An echocardiogram at 8 years of age showed an atrial septal defect, atrial dilation, and constrictive pericarditis. He also developed severe spleen and liver enlargement with steatosis and cystic lesions. Laboratory studies showed elevated liver enzymes and GGT. Brain MRI showed hypoplasia of the adenohypophysis, mega cisterna magna, arachnoid cyst of the right temporal lobe, and syringomelia. At 8.5 years of age he developed interstitial lung disease. The patient had a selective reduction in CD4+ T cells, which were unable to proliferate in response to T-cell receptor stimulation but were more sensitive to homeostatic stimuli. Both CD4+ and CD8+ cells from the patient showed a terminally differentiated phenotype compared to controls. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<p>By linkage analysis in affected Finnish families, Avela et al. (1997) identified a 7-cM candidate region on chromosome 17q flanked by D17S1799 and D17S948 (maximum multipoint lod score of 5.01). Linkage disequilibrium analysis narrowed the critical disease region within approximately 250 kb of marker D17S1853. Because patients with mulibrey nanism commonly have hypoplasia of various endocrine glands and hormone deficiencies, Avela et al. (1997) analyzed a microsatellite-repeat polymorphism at the growth hormone locus (GH1; 139250). Recombination in 1 family excluded it as a candidate gene. Likewise, the homeobox B cluster was excluded by the absence of linkage disequilibrium with a microsatellite-repeat marker at HOX2B (142961). Avela et al. (1997) concluded that the most likely physical location of the markers linked to the MUL locus was 17q21-q24. </p><p>Paavola et al. (1999) studied the location of the genes for Meckel syndrome (MKS1; 249000) and mulibrey nanism, which had been mapped to the same region, 17q21-q24. They constructed a bacterial clone contig over the critical region for both disorders. Several novel CA-repeat markers were isolated from these clones, which allowed refined mapping of the MKS and MUL loci using haplotype and linkage disequilibrium analysis. The localization of the MKS locus was narrowed and the entire MKS region was found to fall within the MUL region. However, in the common critical region, the conserved haplotypes were different in Meckel syndrome and mulibrey nanism patients. A transcript map was constructed by assigning ESTs and genes, derived from the human gene map, to the bacterial clone contig. Altogether, 4 genes and a total of 20 ESTs were precisely localized. </p>
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>The transmission pattern of MUL in the families reported by Avela et al. (2000) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>By positional cloning, Avela et al. (2000) identified the TRIM37 gene and found 4 independent mulibrey nanism-associated mutations (605073.0001-605073.0004). A 5-bp deletion (605073.0001) was found to be the major Finnish mutation. </p><p>In a Turkish family studied in Germany, Jagiello et al. (2003) found that mulibrey nanism cosegregated with a mutation in the TRIM37 gene (605073.0005). </p><p>In an Australian girl with MUL, Hamalainen et al. (2006) identified compound heterozygosity for 2 mutations in the TRIM37 gene (605073.0006 and 605073.0007). </p><p>In an 11-year-old boy with MUL, Bruzzaniti et al. (2020) identified a splice mutation in the TRIM37 gene inherited from the father (605073.0008) and a 17q22 deletion involving a region including the TRIM37 gene inherited from the mother. </p>
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<strong>See Also:</strong>
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Myllarniemi et al. (1978); Perheentupa (1980); Simila et al. (1980);
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Tuuteri et al. (1974)
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<strong>REFERENCES</strong>
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Avela, K., Lipsanen-Nyman, M., Idanheimo, N., Seemanova, E., Rosengren, S., Makela, T. P., Perheentupa, J., de la Chapelle, A., Lehesjoki, A.-E.
|
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<strong>Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism.</strong>
|
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Nature Genet. 25: 298-301, 2000.
|
|
|
|
|
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[PubMed: 10888877]
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[Full Text: https://doi.org/10.1038/77053]
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Avela, K., Lipsanen-Nyman, M., Perheentupa, J., Wallgren-Pettersson, C., Marchand, S., Faure, S., Sistonen, P., de la Chapelle, A., Lehesjoki, A.-E.
|
|
<strong>Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis.</strong>
|
|
Am. J. Hum. Genet. 60: 896-902, 1997.
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|
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|
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[PubMed: 9106536]
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|
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</p>
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Balg, S., Stengel-Rutkowski, S., Dohlemann, C., Boergen, K.
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<strong>Mulibrey nanism.</strong>
|
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Clin. Dysmorph. 4: 63-69, 1995.
|
|
|
|
|
|
[PubMed: 7735507]
|
|
|
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|
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</p>
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</li>
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Bruzzaniti, S., Cirillo, E., Prencipe, R., Giardino, G., Lepore, M. T., Garziano, F., Perna, F., Procaccini, C., Mascolo, L., Pagano, C., Fattorusso, V., Mozzillo, E., Bifulco, M., Matarese, G., Franzese, A., Pignata, C., Galgani, M.
|
|
<strong>CD4+ T cell defects in a mulibrey patient with specific TRIM37 mutations.</strong>
|
|
Front. Immun. 11: 1742, 2020.
|
|
|
|
|
|
[PubMed: 33042106]
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|
|
|
|
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[Full Text: https://doi.org/10.3389/fimmu.2020.01742]
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</p>
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</li>
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<li>
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Cumming, G. R., Kerr, D., Ferguson, C. C.
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<strong>Constrictive pericarditis with dwarfism in two siblings (mulibrey nanism).</strong>
|
|
J. Pediat. 88: 569-572, 1976.
|
|
|
|
|
|
[PubMed: 1255313]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(76)80008-x]
|
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</p>
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</li>
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Hamalainen, R. H., Mowat, D., Gabbett, M. T., O'Brien, T. A., Kallijarvi, J., Lehesjoki, A.-E.
|
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<strong>Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism.</strong>
|
|
Clin. Genet. 70: 473-479, 2006.
|
|
|
|
|
|
[PubMed: 17100991]
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|
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[Full Text: https://doi.org/10.1111/j.1399-0004.2006.00700.x]
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Haraldsson, A., van der Burgt, C. J. A. M., Weemaes, C. M. R., Otten, B., Bakkeren, J. A. J. M., Stoelinga, G. B. A.
|
|
<strong>Antibody deficiency and isolated growth hormone deficiency in a girl with mulibrey nanism.</strong>
|
|
Europ. J. Pediat. 152: 509-512, 1993.
|
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[PubMed: 8335020]
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[Full Text: https://doi.org/10.1007/BF01955061]
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Jagiello, P., Hammans, C., Wieczorek, S., Arning, L., Stefanski, A., Strehl, H., Epplen, J. T., Gencik, M.
|
|
<strong>A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity.</strong>
|
|
Hum. Mutat. 21: 630-635, 2003.
|
|
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|
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[PubMed: 12754710]
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|
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[Full Text: https://doi.org/10.1002/humu.10220]
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|
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Karlberg, N., Jalanko, H., Perheentupa, J., Lipsanen-Nyman, M.
|
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<strong>Mulibrey nanism: clinical features and diagnostic criteria.</strong>
|
|
J. Med. Genet. 41: 92-98, 2004.
|
|
|
|
|
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[PubMed: 14757854]
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[Full Text: https://doi.org/10.1136/jmg.2003.014118]
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Karlberg, S., Tiitinen, A., Lipsanen-Nyman, M.
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<strong>Failure of sexual maturation in mulibrey nanism. (Letter)</strong>
|
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New Eng. J. Med. 351: 2559-2560, 2004.
|
|
|
|
|
|
[PubMed: 15590968]
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[Full Text: https://doi.org/10.1056/NEJM200412093512423]
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|
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Lapunzina, P., Rodriguez, J. I., de Matteo, E., Gracia, R., Moreno, F.
|
|
<strong>Mulibrey nanism: three additional patients and a review of 39 patients.</strong>
|
|
Am. J. Med. Genet. 55: 349-355, 1995.
|
|
|
|
|
|
[PubMed: 7726235]
|
|
|
|
|
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[Full Text: https://doi.org/10.1002/ajmg.1320550320]
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<li>
|
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<p class="mim-text-font">
|
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Myllarniemi, S., Koski, K., Perheentupa, J.
|
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<strong>Craniofacial and dental study of mulibrey nanism.</strong>
|
|
Cleft Palate J. 15: 369-377, 1978.
|
|
|
|
|
|
[PubMed: 281281]
|
|
|
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</p>
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Paavola, P., Avela, K., Horelli-Kuitunen, N., Barlund, M., Kallioniemi, A., Idanheimo, N., Kyttala, M., de la Chapelle, A., Palotie, A., Lehesjoki, A.-E., Peltonen, L.
|
|
<strong>High-resolution physical and genetic mapping of the critical region for Meckel syndrome and mulibrey nanism on chromosome 17q22-q23.</strong>
|
|
Genome Res. 9: 267-276, 1999.
|
|
|
|
|
|
[PubMed: 10077533]
|
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|
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</p>
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Perheentupa, J., Autio, S., Leisti, S., Raitta, C., Tuuteri, L.
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<strong>Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction.</strong>
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Lancet 302: 351-355, 1973. Note: Originally Volume 2.
|
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[PubMed: 4124529]
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[Full Text: https://doi.org/10.1016/s0140-6736(73)93193-0]
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</li>
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<li>
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Perheentupa, J.
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<strong>Mulibrey nanism.In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K. : Population Structure and Genetic Disorders.</strong>
|
|
New York: Academic Press (pub.) 1980. Pp. 641-646.
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</p>
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</li>
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<li>
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Simila, S., Timonen, M., Heikkinen, E.
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<strong>A case of mulibrey nanism with associated Wilms's tumor.</strong>
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Clin. Genet. 17: 29-30, 1980.
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|
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[PubMed: 6248277]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1980.tb00109.x]
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</li>
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<p class="mim-text-font">
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Thoren, C.
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<strong>So-called mulibrey nanism with pericardial constriction (Letter)</strong>
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Lancet 302: 731 only, 1973. Note: Originally Volume 2.
|
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|
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[PubMed: 4125809]
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[Full Text: https://doi.org/10.1016/s0140-6736(73)92557-9]
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Tuuteri, L., Perheentupa, J., Rapola, J.
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<strong>The cardiopathy of mulibrey nanism, a new inherited syndrome.</strong>
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Chest 65: 628-631, 1974.
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[PubMed: 4275521]
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[Full Text: https://doi.org/10.1378/chest.65.6.628]
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Voorhess, M. L., Husson, G. S., Blackman, M. S.
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<strong>Growth failure with pericardial constriction: the syndrome of mulibrey nanism.</strong>
|
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Am. J. Dis. Child. 130: 1146-1148, 1976.
|
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|
|
[PubMed: 135512]
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[Full Text: https://doi.org/10.1001/archpedi.1976.02120110108017]
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<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
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</div>
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</div>
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</div>
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</div>
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</div>
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</body>
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</html>
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