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Entry
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- #155310 - VISCERAL MYOPATHY 1; VSCM1
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- OMIM
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<p>
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<span class="h4">#155310</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/155310"><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="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<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="small">
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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 id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=VISCERAL MYOPATHY" 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=1209&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="#mimGeneReviewsFold" id="mimGeneReviewsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling."><span id="mimGeneReviewsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Gene Reviews</div>
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<div id="mimGeneReviewsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK299311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">ACTG2 Visceral Myopathy</a></div><div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK540960/" title="Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Megacystis-Microcolon-Inte…</a></div>
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</div>
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<div><a href="https://www.diseaseinfosearch.org/x/4557" 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=155310[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=2604" 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/b3cf5520-4869-4ad3-8092-3335a90a7060/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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<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:0060610" 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/155310" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0060610" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span 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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<a id="title" class="mim-anchor"></a>
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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>ORPHA:</strong> 2604<br />
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<strong>DO:</strong> 0060610<br />
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">ICD+</a>
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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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155310
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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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VISCERAL MYOPATHY 1; VSCM1
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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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VISCERAL MYOPATHY; VSCM<br />
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MEGADUODENUM AND/OR MEGACYSTIS<br />
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PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL
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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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<td>
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<span class="mim-font">
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<a href="/geneMap/2/370?start=-3&limit=10&highlight=370">
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2p13.1
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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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Visceral myopathy 1
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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/155310"> 155310 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
|
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<td>
|
|
<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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ACTG2
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/102545"> 102545 </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>
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<div>
|
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/155310" 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')">
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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>
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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">
|
|
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/155310" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/155310" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
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</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>
|
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<p />
|
|
</div>
|
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|
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<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">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
|
<span class="mim-font">
|
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|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
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|
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</div>
|
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|
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</div>
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<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> External Features </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Absent abdominal wall musculature (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4538481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4538481</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pancreas </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pancreatitis (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/75694006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">75694006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K85.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K85.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030305</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001733" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001733</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001733" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001733</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Decreased motility (in all patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011704&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011704</a>]</span><br /> -
|
|
Recurrent abdominal pain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/439469002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">439469002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2585575&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2585575</a>]</span><br /> -
|
|
Recurrent abdominal distention <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011705&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011705</a>]</span><br /> -
|
|
Recurrent pseudoobstruction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011706</a>]</span><br /> -
|
|
Vomiting <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422400008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422400008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/300359004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">300359004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249497008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249497008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042963&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042963</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002013</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002013</a>]</span><br /> -
|
|
Constipation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14760008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14760008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K59.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K59.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K59.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K59.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/564.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">564.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/564.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">564.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009806&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009806</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002019" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002019</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002019" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002019</a>]</span><br /> -
|
|
Diarrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267060006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267060006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62315008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62315008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R19.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R19.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011991</a>, <a href="https://bioportal.bioontology.org/search?q=C2169706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2169706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span><br /> -
|
|
Malnutrition <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/2492009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">2492009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248325000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248325000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65404009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65404009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E46" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E46</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/E40-E46" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E40-E46</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162429&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162429</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004395" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004395</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004395" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004395</a>]</span><br /> -
|
|
Esophageal motor dysfunction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011707&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011707</a>]</span><br /> -
|
|
Dilated stomach <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038353&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038353</a>]</span><br /> -
|
|
Dilated small intestine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011708</a>]</span><br /> -
|
|
Dilated large intestine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011709&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011709</a>]</span><br /> -
|
|
Megacolon (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33995003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33995003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K59.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K59.3</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K59.39" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K59.39</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025160&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025160</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:6000852" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:6000852</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:6000852" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:6000852</a>]</span><br /> -
|
|
Thinning of outer muscular layer of small bowel <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011711&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011711</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:6000072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:6000072</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:6000072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:6000072</a>]</span><br /> -
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Degeneration and fibrosis of muscularis propria of small bowel <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011712&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011712</a>]</span><br /> -
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Disarray of smooth muscle cells in lamina muscularis propria <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011713&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011713</a>]</span><br /> -
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Swelling of smooth muscle cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011714&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011714</a>]</span><br /> -
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Lack of separation between circular and longitudinal layers of bowel wall <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011715&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011715</a>]</span><br /> -
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Disarray of neural tissue in muscularis propria <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011716&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011716</a>]</span><br /> -
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Ganglion cell aggregates <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011717&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011717</a>]</span><br /> -
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Inner circular layer of small bowel muscularis propria contains alpha-smooth muscle actin-positive inclusion bodies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011718&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011718</a>]</span><br /> -
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Periodic acid-Schiff-positive bodies seen in more advanced disease <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011719&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011719</a>]</span><br />
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</span>
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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> Internal Genitalia (Female) </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Inert uterus (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011697</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Ureters </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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- Vesicoureteral reflux <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197811007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197811007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.70</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/593.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">593.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042580&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042580</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000076</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000076</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Bladder </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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- Urinary retention <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/130951007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">130951007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267064002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267064002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/449491000124101" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">449491000124101</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1251594002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1251594002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R33" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R33</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R33.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R33.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/788.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">788.20</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/788.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">788.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5700171&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5700171</a>, <a href="https://bioportal.bioontology.org/search?q=C0080274&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0080274</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000016" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000016</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000016" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000016</a>]</span><br /> -
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Megacystis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855311&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855311</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000021" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000021</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000021" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000021</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> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- De novo mutation (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2985439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2985439</a>]</span><br /> -
|
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Marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the enteric smooth muscle actin gamma-2 gene (ACTG2, <a href="/entry/102545#0001">102545.0001</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">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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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 visceral myopathy-1 (VSCM1) is caused by heterozygous mutation in the ACTG2 gene (<a href="/entry/102545">102545</a>) on chromosome 2p13.</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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<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 id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Familial visceral myopathy (VSCM) is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (<a href="#11" class="mim-tip-reference" title="Lehtonen, H. J., Sipponen, T., Tojkander, S., Karikoski, R., Jarvinen, H., Laing, N. G., Lappalainen, P., Aaltonen, L. A., Tuupanen, S. <strong>Segregation of a missense variant in enteric smooth muscle actin gamma-2 with autosomal dominant familial visceral myopathy.</strong> Gastroenterology 143: 1482-1491, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22960657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22960657</a>] [<a href="https://doi.org/10.1053/j.gastro.2012.08.045" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22960657">Lehtonen et al., 2012</a>). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by <a href="#29" class="mim-tip-reference" title="Wangler, M. F., Gonzaga-Jauregui, C., Gambin, T., Penney, S., Moss, T., Chopra, A., Probst, F. J., Xia, F., Yang, Y., Werlin, S., Eglite, I., Kornejeva, L., and 12 others. <strong>Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.</strong> PLoS Genet. 10: e1004258, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24676022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24676022</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24676022[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/10.1371/journal.pgen.1004258" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24676022">Wangler et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22960657+24676022" 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>Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (<a href="/entry/277320">277320</a>).</p><p>Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (<a href="/entry/100100">100100</a>) and Barrett esophagus (Mungan syndrome; <a href="/entry/611376">611376</a>). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see <a href="/entry/609629">609629</a>).</p><p><strong><em>Genetic Heterogeneity of Visceral Myopathy</em></strong></p><p>
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VSCM2 (<a href="/entry/619350">619350</a>) is caused by mutation in the MYH11 gene (<a href="/entry/160745">160745</a>) on chromosome 16p13.</p>
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</span>
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<div>
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<br />
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<div>
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<a id="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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</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="#30" class="mim-tip-reference" title="Weiss, W. <strong>Zur Aetiologie des Megaduodenums.</strong> Dtsch. Z. Chir. 251: 317-330, 1938."None>Weiss (1938)</a> reported megaduodenum alone in 6 persons in 3 generations of a German family.</p><p><a href="#27" class="mim-tip-reference" title="Tobenkin, M. I. <strong>Hereditary vesicoureteral reflux.</strong> Sth. Med. J. 57: 139-147, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14119085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14119085</a>] [<a href="https://doi.org/10.1097/00007611-196402000-00004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14119085">Tobenkin (1964)</a> described megacystis with nonobstructive vesicoureteral reflux in a mother and her 3 daughters. The history of unilateral nephrectomy in the maternal grandmother suggested that 3 generations may have been affected. No comment on associated megaduodenum was made. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14119085" 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="Newton, W. T. <strong>Radical enterectomy for hereditary megaduodenum.</strong> Arch. Surg. 96: 549-553, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5640593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5640593</a>] [<a href="https://doi.org/10.1001/archsurg.1968.01330220065012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5640593">Newton (1968)</a> treated 2 black males who had megaduodenum. One of them also had megacystis and the father probably had megaduodenum. Marfanoid habitus was noted, which raised a question of the mucosal neuroma syndrome (<a href="/entry/162300">162300</a>). However, microscopic studies showed normal ganglia and presumably no evidence of neuroma. An unusual feature was intermittent bilateral parotid swelling, a feature that <a href="#17" class="mim-tip-reference" title="Newton, W. T. <strong>Radical enterectomy for hereditary megaduodenum.</strong> Arch. Surg. 96: 549-553, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5640593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5640593</a>] [<a href="https://doi.org/10.1001/archsurg.1968.01330220065012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5640593">Newton (1968)</a> stated had been described in persons with intestinal atony due to Chagas disease (<a href="#28" class="mim-tip-reference" title="Vieira, C. B. <strong>Hyperamylasemia and hyperactivity of salivary glands associated with mega-esophagus.</strong> Am. J. Dig. Dis. 6: 727-741, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13781234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13781234</a>] [<a href="https://doi.org/10.1007/BF02231057" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13781234">Vieira, 1961</a>). In a discussion included with the paper by <a href="#17" class="mim-tip-reference" title="Newton, W. T. <strong>Radical enterectomy for hereditary megaduodenum.</strong> Arch. Surg. 96: 549-553, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5640593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5640593</a>] [<a href="https://doi.org/10.1001/archsurg.1968.01330220065012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5640593">Newton (1968)</a>, Oberhelman referred to a family with multiple cases of megaduodenum. Familial occurrence was noted in 2 instances by <a href="#14" class="mim-tip-reference" title="Maldonado, J. E., Gregg, J. A., Green, P. A., Brown, A. L., Jr. <strong>Chronic idiopathic intestinal pseudo-obstruction.</strong> Am. J. Med. 49: 203-212, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5452942/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5452942</a>] [<a href="https://doi.org/10.1016/s0002-9343(70)80076-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5452942">Maldonado et al. (1970)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5452942+13781234+5640593" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Schuffler, M. D., Pope, C., III. <strong>Studies of idiopathic intestinal pseudoobstruction. II. Hereditary hollow visceral myopathy: family studies.</strong> Gastroenterology 73: 339-344, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/873135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">873135</a>]" pmid="873135">Schuffler and Pope (1977)</a> studied the family of a 15-year-old girl with idiopathic intestinal pseudoobstruction. A 13-year-old brother, the mother, a maternal aunt and one of the aunt's children had mild dysphagia and esophageal motor dysfunction. The mother and the brother had flaccid bladder and bilateral ureteral reflux (<a href="/entry/193000">193000</a>), respectively. They suggested the designation 'hereditary hollow visceral myopathy.' Smooth muscle degeneration appears to be the basis of the abnormality. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=873135" 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="Faulk, D. L., Anuras, S., Gardner, G. D., Mitros, F. A., Summers, R. W., Christensen, J. <strong>A familial visceral myopathy.</strong> Ann. Intern. Med. 89: 600-606, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/717927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">717927</a>] [<a href="https://doi.org/10.7326/0003-4819-89-5-600" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="717927">Faulk et al. (1978)</a> described a kindred with at least 18 affected members. Sixteen had symptoms of chronic obstruction of the gastrointestinal and/or urinary tract. Two patients with megaduodenum on contrast studies were asymptomatic. Four had megacolon. Four had megacystis. Specimens from duodenum, jejunum, ileum, colon or urinary bladder in 5 patients showed thinning and extensive collagen replacement of the longitudinal muscle layer. Ganglion cells were normal by light and electron microscopy. Esophageal manometry performed in 3 patients showed decreased gastroesophageal sphincter pressures and absence of contractions in the smooth muscle segment of the esophagus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=717927" 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>Among 27 cases of chronic intestinal pseudoobstruction, <a href="#22" class="mim-tip-reference" title="Schuffler, M. D., Rohrmann, C. A., Chaffee, R. G., Brand, D. L., Delaney, J. H., Young, J. H. <strong>Chronic intestinal pseudo-obstruction: a report of 27 cases and review of the literature.</strong> Medicine 60: 173-196, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6894476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6894476</a>]" pmid="6894476">Schuffler et al. (1981)</a> found 14 cases of progressive systemic sclerosis, 1 of sclerosing mesenteritis, 1 of jejunal diverticulosis, and 5 with no identifiable cause. Hollow visceral myopathy and visceral neuropathy were present in 4 and 2, respectively. The authors stated that these 2 forms are usually familial and that urologic involvement is sometimes present in the former. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6894476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Anuras, S., Shaw, A., Christensen, J. <strong>The familial syndromes of intestinal pseudoobstruction.</strong> Am. J. Hum. Genet. 33: 584-591, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6894822/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6894822</a>]" pmid="6894822">Anuras et al. (1981)</a> reviewed 10 reported families with chronic intestinal pseudoobstruction, 5 of which apparently represented visceral myopathy, with degeneration and fibrosis of the intestine and bladder. In 3, intestinal morphology was normal. Within families, a wide range of severity was observed, with as many as 20% of discovered cases being asymptomatic. In addition, study of families of apparently sporadic cases often uncovered additional affected individuals who had represented a diagnostic enigma to their physicians. By virtue of early diagnosis through such family study, unnecessary laparotomy for presumed mechanical bowel obstruction can be avoided. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6894822" 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="#15" class="mim-tip-reference" title="Mitros, F. A., Schuffler, M., Teja, K., Anuras, S. <strong>Pathologic features of familial visceral myopathy.</strong> Hum. Path. 13: 825-833, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6896696/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6896696</a>] [<a href="https://doi.org/10.1016/s0046-8177(82)80079-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6896696">Mitros et al. (1982)</a> reported the pathologic findings of familial visceral myopathy in 14 members of 4 families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6896696" 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="#25" class="mim-tip-reference" title="Smout, A. J. P. M., de Wilde, K., Kooyman, C. D., Ten Thije, O. J. <strong>Chronic idiopathic intestinal pseudoobstruction: coexistence of smooth muscle and neuronal abnormalities.</strong> Digest. Dis. Sci. 30: 282-287, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3838274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3838274</a>] [<a href="https://doi.org/10.1007/BF01347898" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3838274">Smout et al. (1985)</a> reported a man who presented with achalasia at age 28 years and urinary retention at age 32, and was discovered to have marked dilatation of the entire small intestine at operation for ureteroileocutaneostomy at age 33. The eldest of the patient's 3 daughters had urinary retention and gastrointestinal symptoms. In small intestine specimens from the proband, both smooth muscle and neuronal abnormalities were found; the authors proposed that in this patient the primary defect might be in neuromuscular transmission. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3838274" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Ducastelle, T., Tranvouez, J. L., Lerebours, E., Hemet, J., Muller, J. M., Denis, P., Hecketsweiler, P., Colin, R. <strong>Myopathie viscerale hereditaire: une entite au sein des pseudo-obstructions intestinales idiopathiques.</strong> Gastroent. Clin. Biol. 10: 355-363, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3755111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3755111</a>]" pmid="3755111">Ducastelle et al. (1986)</a> described an affected 17-year-old girl whose brother had abnormal esophageal and anorectal manometry and whose father had died of fatal small intestinal occlusion without mechanical obstruction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3755111" 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="Jones, S. C., Dixon, M. F., Lintott, D. J., Axon, A. T. R. <strong>Familial visceral myopathy: a family with involvement of four generations.</strong> Digest. Dis. Sci. 37: 464-469, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1735371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1735371</a>] [<a href="https://doi.org/10.1007/BF01307744" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1735371">Jones et al. (1992)</a> described visceral myopathy in 5 individuals in 4 successive generations with 3 instances of male-to-male transmission. The affected individuals included a 29-year-old physiotherapist whose problems began at age 9 with frequent urinary tract infections, her 28-year-old brother, and her 60-year-old father. Her grandfather had found it necessary to self-administer enemas daily; the great-grandfather survived to age 91, however. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1735371" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Guze, C. D., Hyman, P. E., Payne, V. J. <strong>Family studies of infantile visceral myopathy: a congenital myopathic pseudo-obstruction syndrome.</strong> Am. J. Med. Genet. 82: 114-122, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9934973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9934973</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990115)82:2<114::aid-ajmg3>3.0.co;2-h" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9934973">Guze et al. (1999)</a> described 16 unrelated children, 11 boys and 5 girls, with chronic myopathic intestinal pseudoobstruction, which they designated 'infantile visceral myopathy;' the authors noted that most of their patients would have been diagnosed as having megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIH; see <a href="/entry/249210">249210</a>). In addition to gastrointestinal tract myopathy, all 16 children had bladder or urinary tract involvement, and megacystis was detected prenatally in 7. Four patients had died, 1 of them 7 months after a multiorgan transplant. Three patients had a positive family history, including 1 male who had megacystis at birth and developed constipation, abdominal distention and pain, frequent urination, and failure to thrive. In the second decade of life, he underwent surgery for malrotation, and at age 20 years, he was dependent on parenteral as well as oral nutrition; he also had an enlarged urinary bladder and stomach. Three maternal relatives over 3 generations had symptoms resembling pseudoobstruction, including 2 who died in infancy of 'stomach trouble' and malnutrition, and a maternal cousin who had had constipation, bloating, and problems with urination since childhood. Another patient exhibited vomiting and failure to thrive after birth, requiring parenteral nutrition; at 6 weeks of age, she became constipated, and at 7 months she had massive dilation of the stomach and duodenum, necessitating a return to parenteral nutrition. She also had hypotonic bladder, and antroduodenal manometry confirmed the diagnosis of infantile visceral myopathy at 5 years of age. She underwent bowel transplantation at age 8 years and was doing well almost 2 years later. Her mother suffered from chronic constipation, and family history also included a maternal half brother with enlarged urinary bladder by ultrasound, who died at 4 months of age from sudden infant death syndrome. The third patient presented at birth with vomiting, constipation, abdominal distention, pain, and failure to thrive. At 7 years of age, he had abdominal pain, slow gastric emptying, fecal impaction, flaccid urinary bladder, and he was small for his age. His father, who was diagnosed with visceral myopathy by muscle biopsy and antroduodenal manometry, reported a 5-generation family history of serious digestive problems. <a href="#5" class="mim-tip-reference" title="Guze, C. D., Hyman, P. E., Payne, V. J. <strong>Family studies of infantile visceral myopathy: a congenital myopathic pseudo-obstruction syndrome.</strong> Am. J. Med. Genet. 82: 114-122, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9934973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9934973</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990115)82:2<114::aid-ajmg3>3.0.co;2-h" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9934973">Guze et al. (1999)</a> suggested that visceral myopathy represents an autosomal dominant disorder with variable expressivity and incomplete penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9934973" 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="#24" class="mim-tip-reference" title="Sipponen, T., Karikoski, R., Nuutinen, H., Markkola, A., Kaitila, I. <strong>Three-generation familial visceral myopathy with alpha-actin-positive inclusion bodies in intestinal smooth muscle.</strong> J. Clin. Gastroent. 43: 437-443, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19098683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19098683</a>] [<a href="https://doi.org/10.1097/MCG.0b013e31817d3f84" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19098683">Sipponen et al. (2009)</a> reported a Finnish family in which 7 members over 3 generations had visceral myopathy. Two family members had been previously described (<a href="#9" class="mim-tip-reference" title="Koskinen, S., Pentikainen, P. J., Mustajoki, P., Jarvinen, H. <strong>Chronic idiopathic intestinal pseudo-obstruction.</strong> Duodecim 105: 363-367, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2702946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2702946</a>]" pmid="2702946">Koskinen et al., 1989</a>). All patients developed intermittent abdominal pain and distention in adolescence due to chronic intestinal pseudoobstruction, which primarily involved the small bowel but also affected the colon in some patients. In addition, 4 patients had endoscopic or histologic evidence of stomach involvement, 1 patient had slight esophageal dilation, and 1 had an inert uterus. None of the affected individuals had signs of megaduodenum, megacystis, or neurologic disease. One family member died at 59 years of age from complications of the disease, including malnutrition, severe electrolyte disturbance, and hypoalbuminemia; another died suddenly at home at 35 years of age, with cause of death reported as pneumonia. Histology of small bowel specimens from 3 patients showed degeneration and fibrosis of the muscularis propria of the intestinal smooth muscle. In addition, the inner circular layer of the muscularis propria contained alpha-smooth muscle actin (<a href="/entry/102545">102545</a>)-positive inclusion bodies; in more advanced disease, periodic acid-Schiff (PAS)-positive bodies were present as well. No abnormalities of the muscularis mucosae or blood vessels were observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2702946+19098683" 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="Holla, O. L., Bock, G., Busk, O. L., Isfoss, B. L. <strong>Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction.</strong> Endoscopy 46: 533-536, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24777424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24777424</a>] [<a href="https://doi.org/10.1055/s-0034-1365142" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24777424">Holla et al. (2014)</a> described a 55-year-old Norwegian woman who in early adulthood developed increasing abdominal discomfort, bloating, and diarrhea. Exploratory laparotomy revealed marked dilation and reduced peristalsis of the small bowel but no obstruction; her symptoms continued, and she eventually required TPN due to worsening nutritional status. Her brother, father, and paternal grandfather and great-grandfather had similar symptoms. Histologic examination of full-thickness ileal biopsies from the proband and her affected brother showed haphazardly arranged smooth muscle in the lamina muscularis propria, with lack of separation between the circular and longitudinal layers. Immunohistology revealed a disorderly arrangement of intramyenteric neural tissue with sizable ganglion cell aggregates. In addition, there was swelling of smooth muscle cells with decreased expression of smooth muscle actin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24777424" 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="#16" class="mim-tip-reference" title="Moreno, C. A., Metze, K., Lomazi, E. A., Bertola, D. R., Barbosa, R. H. A., Cosentino, V., Sobreira, N., Cavalcanti, D. P. <strong>Visceral myopathy: clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.</strong> Am. J. Med. Genet. 170A: 2965-2974, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27481187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27481187</a>] [<a href="https://doi.org/10.1002/ajmg.a.37857" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27481187">Moreno et al. (2016)</a> reported a 5-year-old Brazilian girl (patient 6) who developed symptoms of chronic intestinal pseudoobstruction (CIPO) at age 2 years, with recurrent episodes of vomiting, constipation, and abdominal distention. These acute symptoms were associated with urinary retention and transitory megacystis during some episodes, which spontaneously resolved after the improvement of the gastrointestinal complaints. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27481187" 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="#18" class="mim-tip-reference" title="Ravenscroft, G., Pannell, S., O'Grady, G., Ong, R., Ee, H. C., Faiz, F., Marns, L., Goel, H., Kumarasinghe, P., Sollis, E., Sivadorai, P., Wilson, M., and 15 others. <strong>Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.</strong> Neurogastroent. Motil. 30: e13371, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29781137/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29781137</a>] [<a href="https://doi.org/10.1111/nmo.13371" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29781137">Ravenscroft et al. (2018)</a> studied a 3-generation Australasian family (family 1) with primary CIPO and mutation in the ACTG2 gene. Age at onset of symptoms ranged from 20 to 40 years. Two brothers were affected and each had an affected son. All experienced abdominal pain and distention, nausea and vomiting, and diarrhea. The proband and his nephew underwent bowel resection and required parenteral nutrition. The brothers' mother also had a long history of gastrointestinal dysmotility, including megacolon and atonic bowel requiring total parenteral nutrition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29781137" 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="#10" class="mim-tip-reference" title="Law, D. H., Ten Eyck, E. A. <strong>Familial megaduodenum and megacystis.</strong> Am. J. Med. 33: 911-922, 1962."None>Law and Ten Eyck (1962)</a> reported the association of megaduodenum and megacystis in 9 members of a family of Italian extraction. Male-to-male transmission was observed.</p><p><a href="#8" class="mim-tip-reference" title="Kelly, T. E. <strong>Personal Communication.</strong> Charlottesville, Va. 12/28/1977."None>Kelly (1977)</a> studied a 4-generation family. <a href="#2" class="mim-tip-reference" title="Byrne, W. J., Cipel, L., Euler, A. R., Halpin, T. C., Ament, M. E. <strong>Chronic idiopathic intestinal pseudo-obstruction syndrome in children--clinical characteristics in prognosis.</strong> J. Pediat. 90: 585-589, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/839371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">839371</a>] [<a href="https://doi.org/10.1016/s0022-3476(77)80371-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="839371">Byrne et al. (1977)</a> reported a 3-generation family with many instances of male-to-male transmission. <a href="#13" class="mim-tip-reference" title="Lewis, T. D., Daniel, E. E., Sarna, S. K., Waterfall, W. E., Marzio, L. <strong>Idiopathic intestinal pseudoobstruction: report of a case, with intraluminal studies of mechanical and electrical activity, and response to drugs.</strong> Gastroenterology 74: 107-111, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/618418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">618418</a>]" pmid="618418">Lewis et al. (1978)</a> observed male-to-male transmission. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=839371+618418" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Schuffler, M. D., Rohrmann, C. A., Chaffee, R. G., Brand, D. L., Delaney, J. H., Young, J. H. <strong>Chronic intestinal pseudo-obstruction: a report of 27 cases and review of the literature.</strong> Medicine 60: 173-196, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6894476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6894476</a>]" pmid="6894476">Schuffler et al. (1981)</a> suggested autosomal recessive inheritance of a common environmental factor. Two families with dominant inheritance of visceral myopathy were included in their series. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6894476" 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 the review of <a href="#1" class="mim-tip-reference" title="Anuras, S., Shaw, A., Christensen, J. <strong>The familial syndromes of intestinal pseudoobstruction.</strong> Am. J. Hum. Genet. 33: 584-591, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6894822/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6894822</a>]" pmid="6894822">Anuras et al. (1981)</a> of 10 reported families, 4 families were consistent with dominant inheritance, 3 with X-linked dominant transmission, and 3 with recessive inheritance. Several instances of father-to-son transmission are on record. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6894822" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Guze, C. D., Hyman, P. E., Payne, V. J. <strong>Family studies of infantile visceral myopathy: a congenital myopathic pseudo-obstruction syndrome.</strong> Am. J. Med. Genet. 82: 114-122, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9934973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9934973</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990115)82:2<114::aid-ajmg3>3.0.co;2-h" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9934973">Guze et al. (1999)</a> studied 16 probands, 11 male and 5 female, with infantile visceral myopathy, from ethnically and geographically diverse families within the United States. There were no consanguineous matings and no similarly affected sibs, and only 3 probands had a family history suggestive of affected relatives. <a href="#5" class="mim-tip-reference" title="Guze, C. D., Hyman, P. E., Payne, V. J. <strong>Family studies of infantile visceral myopathy: a congenital myopathic pseudo-obstruction syndrome.</strong> Am. J. Med. Genet. 82: 114-122, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9934973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9934973</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990115)82:2<114::aid-ajmg3>3.0.co;2-h" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9934973">Guze et al. (1999)</a> suspected that new dominant mutations were responsible for some cases, whereas in others a dominant gene with variable expressivity and incomplete penetrance might be responsible. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9934973" 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 a 3-generation Finnish family with visceral myopathy, originally reported by <a href="#24" class="mim-tip-reference" title="Sipponen, T., Karikoski, R., Nuutinen, H., Markkola, A., Kaitila, I. <strong>Three-generation familial visceral myopathy with alpha-actin-positive inclusion bodies in intestinal smooth muscle.</strong> J. Clin. Gastroent. 43: 437-443, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19098683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19098683</a>] [<a href="https://doi.org/10.1097/MCG.0b013e31817d3f84" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19098683">Sipponen et al. (2009)</a>, <a href="#11" class="mim-tip-reference" title="Lehtonen, H. J., Sipponen, T., Tojkander, S., Karikoski, R., Jarvinen, H., Laing, N. G., Lappalainen, P., Aaltonen, L. A., Tuupanen, S. <strong>Segregation of a missense variant in enteric smooth muscle actin gamma-2 with autosomal dominant familial visceral myopathy.</strong> Gastroenterology 143: 1482-1491, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22960657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22960657</a>] [<a href="https://doi.org/10.1053/j.gastro.2012.08.045" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22960657">Lehtonen et al. (2012)</a> performed exome sequencing and identified a missense mutation in the ACTG2 gene (R148S; <a href="/entry/102545#0001">102545.0001</a>). The mutation, which segregated with disease, was not found in 280 Finnish controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22960657+19098683" 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 55-year-old Norwegian woman with chronic intestinal pseudoobstruction due to biopsy-proven visceral myopathy, <a href="#6" class="mim-tip-reference" title="Holla, O. L., Bock, G., Busk, O. L., Isfoss, B. L. <strong>Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction.</strong> Endoscopy 46: 533-536, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24777424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24777424</a>] [<a href="https://doi.org/10.1055/s-0034-1365142" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24777424">Holla et al. (2014)</a> performed next-generation sequencing and identified heterozygosity for the ACTG2 R148S mutation, which was not found in her unaffected mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24777424" 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="#29" class="mim-tip-reference" title="Wangler, M. F., Gonzaga-Jauregui, C., Gambin, T., Penney, S., Moss, T., Chopra, A., Probst, F. J., Xia, F., Yang, Y., Werlin, S., Eglite, I., Kornejeva, L., and 12 others. <strong>Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.</strong> PLoS Genet. 10: e1004258, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24676022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24676022</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24676022[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/10.1371/journal.pgen.1004258" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24676022">Wangler et al. (2014)</a> studied a cohort of 27 probands who had been diagnosed with MMIH and related phenotypes, including intestinal pseudoobstruction, hollow visceral myopathy, and 'prune belly' syndrome (see <a href="/entry/100100">100100</a>). Whole-exome sequencing followed by targeted Sanger sequencing identified heterozygous missense variants in the ACTG2 gene in 15 unrelated patients, including 3 probands from families (Fam12, Fam19, and Fam34) with intestinal hypomotility that developed after infancy (see <a href="/entry/102545#0005">102545.0005</a> and <a href="/entry/102545#0008">102545.0008</a>). Noting the phenotypic variability of mutation-positive patients, the authors suggested that ACTG2 is responsible for a spectrum of smooth muscle disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24676022" 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 5-year-old Brazilian girl with CIPO (patient 6), <a href="#16" class="mim-tip-reference" title="Moreno, C. A., Metze, K., Lomazi, E. A., Bertola, D. R., Barbosa, R. H. A., Cosentino, V., Sobreira, N., Cavalcanti, D. P. <strong>Visceral myopathy: clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.</strong> Am. J. Med. Genet. 170A: 2965-2974, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27481187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27481187</a>] [<a href="https://doi.org/10.1002/ajmg.a.37857" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27481187">Moreno et al. (2016)</a> performed Sanger sequencing of the ACTG2 gene and identified heterozygosity for a missense mutation (T195I; <a href="/entry/102545#0011">102545.0011</a>). The mutation was not found in her unaffected mother; DNA was unavailable from her father. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27481187" 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 cohort of 21 patients with primary CIPO associated with visceral myopathy from 17 Australasian families, <a href="#18" class="mim-tip-reference" title="Ravenscroft, G., Pannell, S., O'Grady, G., Ong, R., Ee, H. C., Faiz, F., Marns, L., Goel, H., Kumarasinghe, P., Sollis, E., Sivadorai, P., Wilson, M., and 15 others. <strong>Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.</strong> Neurogastroent. Motil. 30: e13371, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29781137/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29781137</a>] [<a href="https://doi.org/10.1111/nmo.13371" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29781137">Ravenscroft et al. (2018)</a> sequenced the ACTG2 gene and identified heterozygosity for a missense mutation (R148L; <a href="/entry/102545#0012">102545.0012</a>) in affected members of a 3-generation family (family 1). In addition, 4 unrelated patients (patients 3, 4, 5, and 6) were heterozygous for the previously reported R257C mutation (<a href="/entry/102545#0007">102545.0007</a>), including 1 who was diagnosed within the first 2 months of life with 'congenital megacolon and megacystis syndrome (CMM);' and 2 unrelated patients had mutations at codon R40: patient 2, diagnosed in utero with CMM, was heterozygous for R40H (<a href="/entry/102545#0005">102545.0005</a>), and patient 19, diagnosed in utero with MMIHS (see <a href="/entry/619431">619431</a>), was heterozygous for R40C (<a href="/entry/102545#0006">102545.0006</a>). Patients who were negative for mutation in ACTG2 were screened for mutations in the MYH11, MYLK (<a href="/entry/600922">600922</a>), and LMOD1 (<a href="/entry/602715">602715</a>) genes, but no pathogenic variants were found. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29781137" 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><strong><em>Exclusion Studies</em></strong></p><p>
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Because of observations in mice homozygous for disruption of the alpha-3/beta-4 neuronal nicotinic acetylcholine receptor genes (CHRNA3, <a href="/entry/118503">118503</a>; CHRNB4, <a href="/entry/118509">118509</a>), <a href="#12" class="mim-tip-reference" title="Lev-Lehman, E., Bercovich, D., Xu, W., Stockton, D. W., Beaudet, A. L. <strong>Characterization of the human beta-4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4.</strong> J. Hum. Genet. 46: 362-366, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11450844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11450844</a>] [<a href="https://doi.org/10.1007/PL00010921" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11450844">Lev-Lehman et al. (2001)</a> screened for mutations in these genes, both of which map to human chromosome 15q24, in patients with MMIH. They found no loss-of-function mutations in either gene but found high frequency polymorphisms in both. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11450844" 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>Xu et al. (<a href="#31" class="mim-tip-reference" title="Xu, W., Gelber, S., Orr-Urtreger, A., Armstrong, D., Lewis, R. A., Ou, C.-N., Patrick, J., Role, L., De Biasi, M., Beaudet, A. L. <strong>Megacystis, mydriasis, and ion channel defect in mice lacking the alpha-3 neuronal nicotinic acetylcholine receptor.</strong> Proc. Nat. Acad. Sci. 96: 5746-5751, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10318955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10318955</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10318955[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/10.1073/pnas.96.10.5746" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10318955">1999</a>, <a href="#32" class="mim-tip-reference" title="Xu, W., Orr-Urtreger, A., Nigro, F., Gelber, S., Sutcliffe, C. B., Armstrong, D., Patrick, J. W., Role, L. W., Beaudet, A. L., De Biasi, M. <strong>Multiorgan autonomic dysfunction in mice lacking the beta-2 and the beta-4 subunits of neuronal nicotinic acetylcholine receptors.</strong> J. Neurosci. 19: 9298-9305, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10531434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10531434</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.19-21-09298.1999" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10531434">1999</a>) produced the MMIH phenotype in Chrna3/Chrnb4 knockout mice and postulated that the basic defect in the human disorder might reside in one of these genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10531434+10318955" 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="#Redman1984" class="mim-tip-reference" title="Redman, J. F., Jimenez, J. F., Golladay, E. S., Seibert, J. J. <strong>Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of the literature.</strong> J. Urol. 131: 981-983, 1984.">Redman et al. (1984)</a>; <a href="#Schuffler1978" class="mim-tip-reference" title="Schuffler, M. D., Bird, T. D., Sumi, S. M., Cook, A. <strong>A familial neuronal disease presenting as intestinal pseudoobstruction.</strong> Gastroenterology 75: 889-898, 1978.">Schuffler et al. (1978)</a>; <a href="#Schuffler1976" class="mim-tip-reference" title="Schuffler, M. D., Rohrmann, C. A., Jr., Tempelton, F. E. <strong>The radiologic manifestations of idiopathic intestinal pseudoobstruction.</strong> Am. J. Roentgen. 127: 729-736, 1976.">Schuffler et al.
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1053/j.gastro.2012.08.045" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/nmo.13371" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-5347(17)50738-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.2214/ajr.127.5.729" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/MCG.0b013e31817d3f84" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01347898" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-5347(17)50737-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/00007611-196402000-00004" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF02231057" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24676022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24676022</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24676022[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=24676022" 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/10.1371/journal.pgen.1004258" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.96.10.5746" target="_blank">Full Text</a>]
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Xu, W., Orr-Urtreger, A., Nigro, F., Gelber, S., Sutcliffe, C. B., Armstrong, D., Patrick, J. W., Role, L. W., Beaudet, A. L., De Biasi, M.
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[<a href="https://doi.org/10.1523/JNEUROSCI.19-21-09298.1999" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 07/14/2021
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Marla J. F. O'Neill - updated : 07/13/2021<br>Marla J. F. O'Neill - updated : 05/27/2021<br>Marla J. F. O'Neill - updated : 5/20/2014<br>Victor A. McKusick - updated : 2/14/1999
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Victor A. McKusick : 6/2/1986
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carol : 07/14/2021<br>carol : 07/13/2021<br>carol : 05/28/2021<br>carol : 05/27/2021<br>alopez : 11/07/2019<br>carol : 10/28/2019<br>carol : 12/06/2017<br>carol : 12/05/2017<br>carol : 08/08/2017<br>carol : 06/24/2016<br>carol : 5/20/2016<br>carol : 5/19/2016<br>mcolton : 8/12/2014<br>alopez : 5/21/2014<br>alopez : 5/20/2014<br>alopez : 5/20/2014<br>mcolton : 5/19/2014<br>alopez : 4/13/2012<br>carol : 10/6/2005<br>carol : 10/4/2005<br>joanna : 3/17/2004<br>carol : 2/14/1999<br>carol : 1/22/1999<br>alopez : 6/2/1997<br>mimadm : 11/6/1994<br>carol : 4/29/1994<br>carol : 6/22/1992<br>supermim : 3/16/1992<br>carol : 10/3/1991<br>supermim : 3/20/1990
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<span class="mim-font">
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<strong>#</strong> 155310
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VISCERAL MYOPATHY 1; VSCM1
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<em>Alternative titles; symbols</em>
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VISCERAL MYOPATHY; VSCM<br />
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MEGADUODENUM AND/OR MEGACYSTIS<br />
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PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL
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<strong>ORPHA:</strong> 2604;
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<strong>DO:</strong> 0060610;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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2p13.1
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Visceral myopathy 1
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155310
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Autosomal dominant
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3
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ACTG2
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102545
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that visceral myopathy-1 (VSCM1) is caused by heterozygous mutation in the ACTG2 gene (102545) on chromosome 2p13.</p>
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<strong>Description</strong>
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<p>Familial visceral myopathy (VSCM) is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014). </p><p>Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (277320).</p><p>Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (100100) and Barrett esophagus (Mungan syndrome; 611376). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see 609629).</p><p><strong><em>Genetic Heterogeneity of Visceral Myopathy</em></strong></p><p>
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VSCM2 (619350) is caused by mutation in the MYH11 gene (160745) on chromosome 16p13.</p>
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<strong>Clinical Features</strong>
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<p>Weiss (1938) reported megaduodenum alone in 6 persons in 3 generations of a German family.</p><p>Tobenkin (1964) described megacystis with nonobstructive vesicoureteral reflux in a mother and her 3 daughters. The history of unilateral nephrectomy in the maternal grandmother suggested that 3 generations may have been affected. No comment on associated megaduodenum was made. </p><p>Newton (1968) treated 2 black males who had megaduodenum. One of them also had megacystis and the father probably had megaduodenum. Marfanoid habitus was noted, which raised a question of the mucosal neuroma syndrome (162300). However, microscopic studies showed normal ganglia and presumably no evidence of neuroma. An unusual feature was intermittent bilateral parotid swelling, a feature that Newton (1968) stated had been described in persons with intestinal atony due to Chagas disease (Vieira, 1961). In a discussion included with the paper by Newton (1968), Oberhelman referred to a family with multiple cases of megaduodenum. Familial occurrence was noted in 2 instances by Maldonado et al. (1970). </p><p>Schuffler and Pope (1977) studied the family of a 15-year-old girl with idiopathic intestinal pseudoobstruction. A 13-year-old brother, the mother, a maternal aunt and one of the aunt's children had mild dysphagia and esophageal motor dysfunction. The mother and the brother had flaccid bladder and bilateral ureteral reflux (193000), respectively. They suggested the designation 'hereditary hollow visceral myopathy.' Smooth muscle degeneration appears to be the basis of the abnormality. </p><p>Faulk et al. (1978) described a kindred with at least 18 affected members. Sixteen had symptoms of chronic obstruction of the gastrointestinal and/or urinary tract. Two patients with megaduodenum on contrast studies were asymptomatic. Four had megacolon. Four had megacystis. Specimens from duodenum, jejunum, ileum, colon or urinary bladder in 5 patients showed thinning and extensive collagen replacement of the longitudinal muscle layer. Ganglion cells were normal by light and electron microscopy. Esophageal manometry performed in 3 patients showed decreased gastroesophageal sphincter pressures and absence of contractions in the smooth muscle segment of the esophagus. </p><p>Among 27 cases of chronic intestinal pseudoobstruction, Schuffler et al. (1981) found 14 cases of progressive systemic sclerosis, 1 of sclerosing mesenteritis, 1 of jejunal diverticulosis, and 5 with no identifiable cause. Hollow visceral myopathy and visceral neuropathy were present in 4 and 2, respectively. The authors stated that these 2 forms are usually familial and that urologic involvement is sometimes present in the former. </p><p>Anuras et al. (1981) reviewed 10 reported families with chronic intestinal pseudoobstruction, 5 of which apparently represented visceral myopathy, with degeneration and fibrosis of the intestine and bladder. In 3, intestinal morphology was normal. Within families, a wide range of severity was observed, with as many as 20% of discovered cases being asymptomatic. In addition, study of families of apparently sporadic cases often uncovered additional affected individuals who had represented a diagnostic enigma to their physicians. By virtue of early diagnosis through such family study, unnecessary laparotomy for presumed mechanical bowel obstruction can be avoided. </p><p>Mitros et al. (1982) reported the pathologic findings of familial visceral myopathy in 14 members of 4 families. </p><p>Smout et al. (1985) reported a man who presented with achalasia at age 28 years and urinary retention at age 32, and was discovered to have marked dilatation of the entire small intestine at operation for ureteroileocutaneostomy at age 33. The eldest of the patient's 3 daughters had urinary retention and gastrointestinal symptoms. In small intestine specimens from the proband, both smooth muscle and neuronal abnormalities were found; the authors proposed that in this patient the primary defect might be in neuromuscular transmission. </p><p>Ducastelle et al. (1986) described an affected 17-year-old girl whose brother had abnormal esophageal and anorectal manometry and whose father had died of fatal small intestinal occlusion without mechanical obstruction. </p><p>Jones et al. (1992) described visceral myopathy in 5 individuals in 4 successive generations with 3 instances of male-to-male transmission. The affected individuals included a 29-year-old physiotherapist whose problems began at age 9 with frequent urinary tract infections, her 28-year-old brother, and her 60-year-old father. Her grandfather had found it necessary to self-administer enemas daily; the great-grandfather survived to age 91, however. </p><p>Guze et al. (1999) described 16 unrelated children, 11 boys and 5 girls, with chronic myopathic intestinal pseudoobstruction, which they designated 'infantile visceral myopathy;' the authors noted that most of their patients would have been diagnosed as having megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIH; see 249210). In addition to gastrointestinal tract myopathy, all 16 children had bladder or urinary tract involvement, and megacystis was detected prenatally in 7. Four patients had died, 1 of them 7 months after a multiorgan transplant. Three patients had a positive family history, including 1 male who had megacystis at birth and developed constipation, abdominal distention and pain, frequent urination, and failure to thrive. In the second decade of life, he underwent surgery for malrotation, and at age 20 years, he was dependent on parenteral as well as oral nutrition; he also had an enlarged urinary bladder and stomach. Three maternal relatives over 3 generations had symptoms resembling pseudoobstruction, including 2 who died in infancy of 'stomach trouble' and malnutrition, and a maternal cousin who had had constipation, bloating, and problems with urination since childhood. Another patient exhibited vomiting and failure to thrive after birth, requiring parenteral nutrition; at 6 weeks of age, she became constipated, and at 7 months she had massive dilation of the stomach and duodenum, necessitating a return to parenteral nutrition. She also had hypotonic bladder, and antroduodenal manometry confirmed the diagnosis of infantile visceral myopathy at 5 years of age. She underwent bowel transplantation at age 8 years and was doing well almost 2 years later. Her mother suffered from chronic constipation, and family history also included a maternal half brother with enlarged urinary bladder by ultrasound, who died at 4 months of age from sudden infant death syndrome. The third patient presented at birth with vomiting, constipation, abdominal distention, pain, and failure to thrive. At 7 years of age, he had abdominal pain, slow gastric emptying, fecal impaction, flaccid urinary bladder, and he was small for his age. His father, who was diagnosed with visceral myopathy by muscle biopsy and antroduodenal manometry, reported a 5-generation family history of serious digestive problems. Guze et al. (1999) suggested that visceral myopathy represents an autosomal dominant disorder with variable expressivity and incomplete penetrance. </p><p>Sipponen et al. (2009) reported a Finnish family in which 7 members over 3 generations had visceral myopathy. Two family members had been previously described (Koskinen et al., 1989). All patients developed intermittent abdominal pain and distention in adolescence due to chronic intestinal pseudoobstruction, which primarily involved the small bowel but also affected the colon in some patients. In addition, 4 patients had endoscopic or histologic evidence of stomach involvement, 1 patient had slight esophageal dilation, and 1 had an inert uterus. None of the affected individuals had signs of megaduodenum, megacystis, or neurologic disease. One family member died at 59 years of age from complications of the disease, including malnutrition, severe electrolyte disturbance, and hypoalbuminemia; another died suddenly at home at 35 years of age, with cause of death reported as pneumonia. Histology of small bowel specimens from 3 patients showed degeneration and fibrosis of the muscularis propria of the intestinal smooth muscle. In addition, the inner circular layer of the muscularis propria contained alpha-smooth muscle actin (102545)-positive inclusion bodies; in more advanced disease, periodic acid-Schiff (PAS)-positive bodies were present as well. No abnormalities of the muscularis mucosae or blood vessels were observed. </p><p>Holla et al. (2014) described a 55-year-old Norwegian woman who in early adulthood developed increasing abdominal discomfort, bloating, and diarrhea. Exploratory laparotomy revealed marked dilation and reduced peristalsis of the small bowel but no obstruction; her symptoms continued, and she eventually required TPN due to worsening nutritional status. Her brother, father, and paternal grandfather and great-grandfather had similar symptoms. Histologic examination of full-thickness ileal biopsies from the proband and her affected brother showed haphazardly arranged smooth muscle in the lamina muscularis propria, with lack of separation between the circular and longitudinal layers. Immunohistology revealed a disorderly arrangement of intramyenteric neural tissue with sizable ganglion cell aggregates. In addition, there was swelling of smooth muscle cells with decreased expression of smooth muscle actin. </p><p>Moreno et al. (2016) reported a 5-year-old Brazilian girl (patient 6) who developed symptoms of chronic intestinal pseudoobstruction (CIPO) at age 2 years, with recurrent episodes of vomiting, constipation, and abdominal distention. These acute symptoms were associated with urinary retention and transitory megacystis during some episodes, which spontaneously resolved after the improvement of the gastrointestinal complaints. </p><p>Ravenscroft et al. (2018) studied a 3-generation Australasian family (family 1) with primary CIPO and mutation in the ACTG2 gene. Age at onset of symptoms ranged from 20 to 40 years. Two brothers were affected and each had an affected son. All experienced abdominal pain and distention, nausea and vomiting, and diarrhea. The proband and his nephew underwent bowel resection and required parenteral nutrition. The brothers' mother also had a long history of gastrointestinal dysmotility, including megacolon and atonic bowel requiring total parenteral nutrition. </p>
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<strong>Inheritance</strong>
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<p>Law and Ten Eyck (1962) reported the association of megaduodenum and megacystis in 9 members of a family of Italian extraction. Male-to-male transmission was observed.</p><p>Kelly (1977) studied a 4-generation family. Byrne et al. (1977) reported a 3-generation family with many instances of male-to-male transmission. Lewis et al. (1978) observed male-to-male transmission. </p><p>Schuffler et al. (1981) suggested autosomal recessive inheritance of a common environmental factor. Two families with dominant inheritance of visceral myopathy were included in their series. </p><p>In the review of Anuras et al. (1981) of 10 reported families, 4 families were consistent with dominant inheritance, 3 with X-linked dominant transmission, and 3 with recessive inheritance. Several instances of father-to-son transmission are on record. </p><p>Guze et al. (1999) studied 16 probands, 11 male and 5 female, with infantile visceral myopathy, from ethnically and geographically diverse families within the United States. There were no consanguineous matings and no similarly affected sibs, and only 3 probands had a family history suggestive of affected relatives. Guze et al. (1999) suspected that new dominant mutations were responsible for some cases, whereas in others a dominant gene with variable expressivity and incomplete penetrance might be responsible. </p>
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<strong>Molecular Genetics</strong>
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<p>In a 3-generation Finnish family with visceral myopathy, originally reported by Sipponen et al. (2009), Lehtonen et al. (2012) performed exome sequencing and identified a missense mutation in the ACTG2 gene (R148S; 102545.0001). The mutation, which segregated with disease, was not found in 280 Finnish controls. </p><p>In a 55-year-old Norwegian woman with chronic intestinal pseudoobstruction due to biopsy-proven visceral myopathy, Holla et al. (2014) performed next-generation sequencing and identified heterozygosity for the ACTG2 R148S mutation, which was not found in her unaffected mother. </p><p>Wangler et al. (2014) studied a cohort of 27 probands who had been diagnosed with MMIH and related phenotypes, including intestinal pseudoobstruction, hollow visceral myopathy, and 'prune belly' syndrome (see 100100). Whole-exome sequencing followed by targeted Sanger sequencing identified heterozygous missense variants in the ACTG2 gene in 15 unrelated patients, including 3 probands from families (Fam12, Fam19, and Fam34) with intestinal hypomotility that developed after infancy (see 102545.0005 and 102545.0008). Noting the phenotypic variability of mutation-positive patients, the authors suggested that ACTG2 is responsible for a spectrum of smooth muscle disease. </p><p>In a 5-year-old Brazilian girl with CIPO (patient 6), Moreno et al. (2016) performed Sanger sequencing of the ACTG2 gene and identified heterozygosity for a missense mutation (T195I; 102545.0011). The mutation was not found in her unaffected mother; DNA was unavailable from her father. </p><p>In a cohort of 21 patients with primary CIPO associated with visceral myopathy from 17 Australasian families, Ravenscroft et al. (2018) sequenced the ACTG2 gene and identified heterozygosity for a missense mutation (R148L; 102545.0012) in affected members of a 3-generation family (family 1). In addition, 4 unrelated patients (patients 3, 4, 5, and 6) were heterozygous for the previously reported R257C mutation (102545.0007), including 1 who was diagnosed within the first 2 months of life with 'congenital megacolon and megacystis syndrome (CMM);' and 2 unrelated patients had mutations at codon R40: patient 2, diagnosed in utero with CMM, was heterozygous for R40H (102545.0005), and patient 19, diagnosed in utero with MMIHS (see 619431), was heterozygous for R40C (102545.0006). Patients who were negative for mutation in ACTG2 were screened for mutations in the MYH11, MYLK (600922), and LMOD1 (602715) genes, but no pathogenic variants were found. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
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Because of observations in mice homozygous for disruption of the alpha-3/beta-4 neuronal nicotinic acetylcholine receptor genes (CHRNA3, 118503; CHRNB4, 118509), Lev-Lehman et al. (2001) screened for mutations in these genes, both of which map to human chromosome 15q24, in patients with MMIH. They found no loss-of-function mutations in either gene but found high frequency polymorphisms in both. </p>
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<p>Xu et al. (1999, 1999) produced the MMIH phenotype in Chrna3/Chrnb4 knockout mice and postulated that the basic defect in the human disorder might reside in one of these genes. </p>
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<span class="mim-font">
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<strong>See Also:</strong>
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<span class="mim-text-font">
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Redman et al. (1984); Schuffler et al. (1978); Schuffler et al.
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(1976); Stafford et al. (1984)
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<strong>REFERENCES</strong>
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<p class="mim-text-font">
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Anuras, S., Shaw, A., Christensen, J.
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<strong>The familial syndromes of intestinal pseudoobstruction.</strong>
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Am. J. Hum. Genet. 33: 584-591, 1981.
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[PubMed: 6894822]
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Byrne, W. J., Cipel, L., Euler, A. R., Halpin, T. C., Ament, M. E.
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<strong>Chronic idiopathic intestinal pseudo-obstruction syndrome in children--clinical characteristics in prognosis.</strong>
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J. Pediat. 90: 585-589, 1977.
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[PubMed: 839371]
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[Full Text: https://doi.org/10.1016/s0022-3476(77)80371-5]
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Marla J. F. O'Neill - updated : 07/14/2021<br>Marla J. F. O'Neill - updated : 07/13/2021<br>Marla J. F. O'Neill - updated : 05/27/2021<br>Marla J. F. O'Neill - updated : 5/20/2014<br>Victor A. McKusick - updated : 2/14/1999
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