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<title>
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Entry
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- #610156 - IMPAIRED INTELLECTUAL DEVELOPMENT, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME; MORMS
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- OMIM
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<span class="h4">#610156</span>
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#description">Description</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="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(IMPAIRED INTELLECTUAL DEVELOPMENT, TRUNCAL OBESITY, RETINAL DYSTROPHY, MICROPENIS SYNDROME) OR (INPP5E)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11096&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/4873" 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=610156[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=75858" 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/4e91a816-024b-4ed0-b2e3-07cfe786de56/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>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 715628009<br />
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<strong>ORPHA:</strong> 75858<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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610156
|
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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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IMPAIRED INTELLECTUAL DEVELOPMENT, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME; MORMS
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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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MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME<br />
|
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MORM 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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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/9/654?start=-3&limit=10&highlight=654">
|
|
9q34.3
|
|
</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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Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome
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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/610156"> 610156 </a>
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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INPP5E
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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/613037"> 613037 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/610156" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/610156" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/610156" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- 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 />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> GROWTH </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Weight </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Truncal obesity apparent in childhood <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859846&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859846</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008915" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008915</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008915" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008915</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> HEAD & NECK </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Eyes </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Retinal dystrophy, congenital, nonprogressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857805&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857805</a>]</span><br /> -
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Reduced visual acuity by age 3 years <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857806&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857806</a>]</span><br /> -
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Cataracts develop in second or third decade <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857807&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857807</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> GENITOURINARY </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> External Genitalia (Male) </em>
|
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</span>
|
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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- Micropenis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34911001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34911001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q55.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q55.62</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.64" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.64</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266435&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266435</a>, <a href="https://bioportal.bioontology.org/search?q=C4551492&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551492</a>, <a href="https://bioportal.bioontology.org/search?q=C1387005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1387005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008736" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008736</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000054" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000054</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000054" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000054</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> NEUROLOGIC </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<em> Central Nervous System </em>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
|
- Mental retardation, moderate (apparent by age 4 years) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857803&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857803</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61152003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61152003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F71</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/318.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">318.0</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002342" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002342</a>]</span><br /> -
|
|
Delayed language acquisition <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023012&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023012</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<div>
|
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<span class="mim-font">
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|
|
- Caused by mutation in the inositol polyphosphate-5-phosphatase, 72-kd gene (INPP5E, <a href="/entry/613037#0001">613037.0001</a>).<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
|
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</div>
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</div>
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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="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome (MORMS) is caused by homozygous mutation in the INPP5E gene (<a href="/entry/613037">613037</a>) on chromosome 9q34. One such family has been reported.</p>
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</span>
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<div>
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<br />
|
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
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<p>Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome (MORMS) is an autosomal recessive disorder characterized by these findings (<a href="#1" class="mim-tip-reference" title="Hampshire, D. J., Ayub, M., Springell, K., Roberts, E., Jafri, H., Rashid, Y., Bond, J., Riley, J. H., Woods, C. G. <strong>MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.</strong> Europ. J. Hum. Genet. 14: 543-548, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16493448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16493448</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201577" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16493448">Hampshire et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16493448" 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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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#1" class="mim-tip-reference" title="Hampshire, D. J., Ayub, M., Springell, K., Roberts, E., Jafri, H., Rashid, Y., Bond, J., Riley, J. H., Woods, C. G. <strong>MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.</strong> Europ. J. Hum. Genet. 14: 543-548, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16493448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16493448</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201577" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16493448">Hampshire et al. (2006)</a> reported a consanguineous Pakistani kindred in which 14 individuals were affected with an autosomal recessive disorder characterized by moderate mental retardation, truncal obesity, congenital nonprogressive retinal dystrophy, and micropenis in males. The authors suggested the acronym 'MORM' syndrome. The phenotype was similar to Bardet-Biedl syndrome (BBS; <a href="/entry/209900">209900</a>) and Cohen syndrome (COH1; <a href="/entry/216550">216550</a>) but could be distinguished by the age of onset and nonprogressive nature of the visual impairment, and the lack of several characteristics, including dysmorphic facies, skin or gingival infection, microcephaly, 'mottled retina,' polydactyly, and testicular anomalies. The family originated from a valley in the Salt Range of Punjab, Pakistan. Family lore maintained that 16 Arabs settled in the valley 1,000 years ago and that descendants had always married within the family since that time. The village currently numbers about 5,000 with 5 different clans; the affected pedigree is a subgroup of 1 of these 5 clans, and affected individuals could be traced back to 1 founding couple. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16493448" 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 genomewide linkage analysis, <a href="#1" class="mim-tip-reference" title="Hampshire, D. J., Ayub, M., Springell, K., Roberts, E., Jafri, H., Rashid, Y., Bond, J., Riley, J. H., Woods, C. G. <strong>MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.</strong> Europ. J. Hum. Genet. 14: 543-548, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16493448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16493448</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201577" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16493448">Hampshire et al. (2006)</a> identified a candidate MORM syndrome locus within an approximately 1-cM subtelomeric region on chromosome 9q34.3 (maximum lod score of 5.64) between markers D9S158 and D9S905. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16493448" 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 MORM syndrome in the family reported by <a href="#2" class="mim-tip-reference" title="Jacoby, M., Cox, J. J., Gayral, S., Hampshire, D. J., Ayub, M., Blockmans, M., Pernot, E., Kisseleva, M. V., Compere, P., Schiffmann, S. N., Gergely, F., Riley, J. H., Perez-Morga, D., Woods, C. G., Schurmans, S. <strong>INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.</strong> Nature Genet. 41: 1027-1031, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19668215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19668215</a>] [<a href="https://doi.org/10.1038/ng.427" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19668215">Jacoby et al. (2009)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19668215" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of a family with MORM syndrome, <a href="#2" class="mim-tip-reference" title="Jacoby, M., Cox, J. J., Gayral, S., Hampshire, D. J., Ayub, M., Blockmans, M., Pernot, E., Kisseleva, M. V., Compere, P., Schiffmann, S. N., Gergely, F., Riley, J. H., Perez-Morga, D., Woods, C. G., Schurmans, S. <strong>INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.</strong> Nature Genet. 41: 1027-1031, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19668215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19668215</a>] [<a href="https://doi.org/10.1038/ng.427" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19668215">Jacoby et al. (2009)</a> identified a homozygous mutation (Q627X; <a href="/entry/613037#0001">613037.0001</a>) in the INPP5E gene. In vitro functional expression studies showed that the mutant protein had impaired localization in cilia and was unable to stabilize ciliary structures. However, phosphatase activity was retained. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19668215" 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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Hampshire, D. J., Ayub, M., Springell, K., Roberts, E., Jafri, H., Rashid, Y., Bond, J., Riley, J. H., Woods, C. G.
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<strong>MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.</strong>
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Europ. J. Hum. Genet. 14: 543-548, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16493448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16493448</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16493448" 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/10.1038/sj.ejhg.5201577" target="_blank">Full Text</a>]
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Jacoby, M., Cox, J. J., Gayral, S., Hampshire, D. J., Ayub, M., Blockmans, M., Pernot, E., Kisseleva, M. V., Compere, P., Schiffmann, S. N., Gergely, F., Riley, J. H., Perez-Morga, D., Woods, C. G., Schurmans, S.
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<strong>INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.</strong>
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Nature Genet. 41: 1027-1031, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19668215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19668215</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19668215" 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/10.1038/ng.427" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 9/29/2009
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Cassandra L. Kniffin : 6/1/2006
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carol : 01/04/2024
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carol : 12/15/2022<br>alopez : 12/14/2022<br>carol : 12/01/2014<br>ckniffin : 8/18/2014<br>terry : 11/25/2009<br>wwang : 10/12/2009<br>ckniffin : 9/29/2009<br>wwang : 6/5/2006<br>ckniffin : 6/1/2006
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<strong>#</strong> 610156
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IMPAIRED INTELLECTUAL DEVELOPMENT, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME; MORMS
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MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME<br />
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MORM SYNDROME
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<strong>SNOMEDCT:</strong> 715628009;
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<strong>ORPHA:</strong> 75858;
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9q34.3
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Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome
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610156
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Autosomal recessive
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3
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INPP5E
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613037
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<p>A number sign (#) is used with this entry because of evidence that impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome (MORMS) is caused by homozygous mutation in the INPP5E gene (613037) on chromosome 9q34. One such family has been reported.</p>
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<p>Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome (MORMS) is an autosomal recessive disorder characterized by these findings (Hampshire et al., 2006). </p>
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<p>Hampshire et al. (2006) reported a consanguineous Pakistani kindred in which 14 individuals were affected with an autosomal recessive disorder characterized by moderate mental retardation, truncal obesity, congenital nonprogressive retinal dystrophy, and micropenis in males. The authors suggested the acronym 'MORM' syndrome. The phenotype was similar to Bardet-Biedl syndrome (BBS; 209900) and Cohen syndrome (COH1; 216550) but could be distinguished by the age of onset and nonprogressive nature of the visual impairment, and the lack of several characteristics, including dysmorphic facies, skin or gingival infection, microcephaly, 'mottled retina,' polydactyly, and testicular anomalies. The family originated from a valley in the Salt Range of Punjab, Pakistan. Family lore maintained that 16 Arabs settled in the valley 1,000 years ago and that descendants had always married within the family since that time. The village currently numbers about 5,000 with 5 different clans; the affected pedigree is a subgroup of 1 of these 5 clans, and affected individuals could be traced back to 1 founding couple. </p>
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<strong>Mapping</strong>
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<p>By genomewide linkage analysis, Hampshire et al. (2006) identified a candidate MORM syndrome locus within an approximately 1-cM subtelomeric region on chromosome 9q34.3 (maximum lod score of 5.64) between markers D9S158 and D9S905. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of MORM syndrome in the family reported by Jacoby et al. (2009) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of a family with MORM syndrome, Jacoby et al. (2009) identified a homozygous mutation (Q627X; 613037.0001) in the INPP5E gene. In vitro functional expression studies showed that the mutant protein had impaired localization in cilia and was unable to stabilize ciliary structures. However, phosphatase activity was retained. </p>
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<strong>REFERENCES</strong>
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Hampshire, D. J., Ayub, M., Springell, K., Roberts, E., Jafri, H., Rashid, Y., Bond, J., Riley, J. H., Woods, C. G.
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<strong>MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.</strong>
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Europ. J. Hum. Genet. 14: 543-548, 2006.
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[PubMed: 16493448]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5201577]
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Jacoby, M., Cox, J. J., Gayral, S., Hampshire, D. J., Ayub, M., Blockmans, M., Pernot, E., Kisseleva, M. V., Compere, P., Schiffmann, S. N., Gergely, F., Riley, J. H., Perez-Morga, D., Woods, C. G., Schurmans, S.
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<strong>INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.</strong>
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Nature Genet. 41: 1027-1031, 2009.
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[PubMed: 19668215]
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[Full Text: https://doi.org/10.1038/ng.427]
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 9/29/2009
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Creation Date:
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Cassandra L. Kniffin : 6/1/2006
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carol : 01/04/2024<br>carol : 12/15/2022<br>alopez : 12/14/2022<br>carol : 12/01/2014<br>ckniffin : 8/18/2014<br>terry : 11/25/2009<br>wwang : 10/12/2009<br>ckniffin : 9/29/2009<br>wwang : 6/5/2006<br>ckniffin : 6/1/2006
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