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Entry
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- #619431 - MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5
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- OMIM
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<p>
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<span class="h4">#619431</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/619431"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS249210"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#references"><strong>References</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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</a>
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</h4>
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=(MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME) OR (ACTG2)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2113&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=619431[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=2241" 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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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<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> 2241<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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619431
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</span>
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</span>
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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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MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5
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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="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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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/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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Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
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<td>
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<span class="mim-font">
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<a href="/entry/619431"> 619431 </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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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</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">
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<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 class="btn-group ">
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<a href="/clinicalSynopsis/619431" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS249210" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/619431" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/619431" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p />
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal 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>
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|
</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Features </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Lax abdominal wall <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271673003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271673003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426662&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426662</a>]</span><br /> -
|
|
Abdominal distension <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60728008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60728008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0000731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0000731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003270</a>]</span><br /> -
|
|
Prune-belly phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5543637&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5543637</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">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Intestinal hypoperistalsis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4020700&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4020700</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100771</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100771</a>]</span><br /> -
|
|
Intestinal pseudoobstruction <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/235825006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">235825006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0021847&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0021847</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004389</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004389</a>]</span><br /> -
|
|
Microcolon <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18389004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18389004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q43.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q43.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266200&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266200</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004388" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004388</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004388" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004388</a>]</span><br /> -
|
|
Intestinal malrotation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48641006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48641006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29980002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29980002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253789002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253789002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221210</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002566" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002566</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002566" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002566</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Internal Genitalia (Male) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Undescended testes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204878001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204878001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q53.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010417</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Internal Genitalia (Female) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Uterine atony <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9293002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9293002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26158002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26158002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/O62.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O62.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042135&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042135</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hydronephrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43064006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43064006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.30</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">591</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020295</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span><br /> -
|
|
Hyperechogenic kidneys <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3275899&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3275899</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004719</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004719</a>]</span><br /> -
|
|
Renal cysts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/722223000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">722223000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3887499&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887499</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000107</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000107</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ureters </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hydroureter <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/69758005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">69758005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95576001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95576001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N28.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N28.82</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/593.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">593.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521620&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521620</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000072</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000072</a>]</span><br />
|
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|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Bladder </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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> PRENATAL MANIFESTATIONS </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> Amniotic Fluid </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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- Polyhydramnios <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86203003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86203003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/O40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O40</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/657.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">657.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/657" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">657</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020224</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001561" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001561</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001561" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001561</a>]</span><br /> -
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Oligohydramnios <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59566000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59566000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/O41.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O41.00</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/O41.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O41.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/658.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">658.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0079924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0079924</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001562" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001562</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001562" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001562</a>]</span><br /> -
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Anhydramnios <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/313017000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">313017000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0730379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0730379</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025700" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025700</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025700" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025700</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<strong> 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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- Malnutrition can be severe, requiring total parenteral nutrition<br /> -
|
|
Disorder is fatal without intensive supportive treatment<br />
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|
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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">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
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|
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<div>
|
|
<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#0002">102545.0002</a>)<br />
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|
|
</span>
|
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</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small">
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Megacystis-microcolon-intestinal hypoperistalsis syndrome
|
|
- <a href="/phenotypicSeries/PS249210">PS249210</a>
|
|
- 5 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1572?start=-3&limit=10&highlight=1572"> 1q32.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619362"> ?Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619362"> 619362 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602715"> LMOD1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602715"> 602715 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/370?start=-3&limit=10&highlight=370"> 2p13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619431"> Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619431"> 619431 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102545"> ACTG2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102545"> 102545 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/621?start=-3&limit=10&highlight=621"> 3q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/249210"> Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/249210"> 249210 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600922"> MYLK </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600922"> 600922 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/220?start=-3&limit=10&highlight=220"> 16p13.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619351"> Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619351"> 619351 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160745"> MYH11 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160745"> 160745 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/257?start=-3&limit=10&highlight=257"> 20q11.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619365"> ?Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619365"> 619365 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609905"> MYL9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609905"> 609905 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
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|
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|
|
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|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</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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|
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<div>
|
|
<a id="text" class="mim-anchor"></a>
|
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|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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|
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<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</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 megacystis-microcolon-intestinal hypoperistalsis syndrome-5 (MMIHS5) is caused by heterozygous mutation in the ACTG2 gene (<a href="/entry/102545">102545</a>) on chromosome 2p13.</p><p>Visceral myopathy-1 (VSCM1; <a href="/entry/155310">155310</a>), which overlaps phenotypically with MMIHS5, is also caused by heterozygous mutation in the ACTG2 gene.</p>
|
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</span>
|
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<div>
|
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<br />
|
|
</div>
|
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</div>
|
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|
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<div>
|
|
<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
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</div>
|
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|
|
<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
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<p>Megacystis-microcolon-intestinal hypoperistalsis syndrome-5 (MMIHS5) is a form of visceral myopathy characterized by significant inter- and intrafamilial variability, with the most severely affected patients exhibiting prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (<a href="#6" 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://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/?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>For a general phenotypic description and discussion of genetic heterogeneity of MMIHS, see MMIHS1 (<a href="/entry/249210">249210</a>).</p>
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<p><a href="#5" class="mim-tip-reference" title="Thorson, W., Diaz-Horta, O., Foster, J., II., Spiliopoulos, M., Quintero, R., Farooq, A., Blanton, S., Tekin, M. <strong>De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.</strong> Hum. Genet. 133: 737-742, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24337657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24337657</a>] [<a href="https://doi.org/10.1007/s00439-013-1406-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24337657">Thorson et al. (2014)</a> studied 2 children with megacystis and intestinal pseudoobstruction. The first was a girl born with megacystis and hydronephrosis as well as malrotation and pseudoobstruction of the intestine. She was dependent on TPN and developed end-stage liver disease with portal hypertension. Full-thickness biopsy of the large intestine confirmed the presence of ganglion cells; biopsy of the jejunum showed a thin outer muscular layer. At 8 months of age, she underwent en bloc transplant of stomach, liver, pancreas, and small intestine; at age 12 years, she was doing well but required intermittent urinary catheterization. The second patient was a male infant who was diagnosed at 19 weeks' gestation with megacystis, bilateral hydroureters, and anhydramnios. Postnatal evaluation revealed intestinal malrotation, microcolon, and dilated proximal small intestine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24337657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Halim, D., Hofstra, R. M. W., Signorile, L., Verdijk, R. M., van der Werf, C. S., Sribudiani, Y., Brouwer, R. W. W., van Ijcken, W. F. J., Dahl, N., Verheij, J. B. G. M., Baumann, C., Kerner, J., van Bever, Y., Galjart, N., Wijnen, R. M. H., Tibboel, D., Burns, A. J., Muller, F., Brooks, A. S., Alves, M. M. <strong>ACTG2 variants impair actin polymerization in sporadic megacystis microcolon intestinal hypoperistalsis syndrome.</strong> Hum. Molec. Genet. 25: 571-583, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26647307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26647307</a>] [<a href="https://doi.org/10.1093/hmg/ddv497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26647307">Halim et al. (2016)</a> reported 8 sporadic patients with 'typical' MMIHS and mutations in the ACTG2 gene. Of the 5 patients for whom information was available, prenatal findings included megacystis, hydroureter, hydronephrosis, and polyhydramnios. All patients had enlarged bladder and microcolon; 6 who were evaluated had documented hypoperistalsis; and 5 had malrotation of the intestines. Only 1 patient (S6) was alive at age 24 years, on parenteral and enteral nutrition; another (S1) died at age 23 years from multiple organ failure, as did patient S5 at age 8 months. Two others (S3 and S4) died at age 5 days and 5 months, respectively, upon discontinuation of treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26647307" 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="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 3 unrelated Brazilian children with MMIHS and mutations in ACTG2. A male infant (patient 3) and a female infant (patient 4) died despite supportive therapy, at 7 months and 11 months of age, respectively. Patient 5 was alive at 5 months of age, maintained on total parenteral nutrition. Histology of the stomach and small and large intestine in patient 4 was reported as normal, whereas histology in patient 5 showed enterocolitis. <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="#3" class="mim-tip-reference" title="Milunsky, A., Baldwin, C., Zhang, X., Primack, D., Curnow, A., Milunsky, J. <strong>Diagnosis of chronic intestinal pseudo-obstruction and megacystis by sequencing the ACTG2 gene.</strong> J. Pediat. Gastroent. Nutr. 65: 384-387, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28422808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28422808</a>] [<a href="https://doi.org/10.1097/MPG.0000000000001608" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28422808">Milunsky et al. (2017)</a> reported 7 patients from 4 families with severe chronic intestinal pseudoobstruction (CIPO) and megacystis who had mutations in ACTG2. Megacystis was present prenatally and evident at birth in all 7 patients. Three patients died, at 6 months, 2 years, and 11.5 years of age. Four patients required long-term TPN, 1 of whom underwent multiorgan transplantation at age 38, after 35 years on TPN. Three each had gastrostomy, ileostomy, and colectomy, and 6 required lifelong bladder catheterization due to megacystis. None had microcolon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28422808" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of MMIHS5 in families reported by <a href="#6" 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://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> and <a href="#2" class="mim-tip-reference" title="Halim, D., Hofstra, R. M. W., Signorile, L., Verdijk, R. M., van der Werf, C. S., Sribudiani, Y., Brouwer, R. W. W., van Ijcken, W. F. J., Dahl, N., Verheij, J. B. G. M., Baumann, C., Kerner, J., van Bever, Y., Galjart, N., Wijnen, R. M. H., Tibboel, D., Burns, A. J., Muller, F., Brooks, A. S., Alves, M. M. <strong>ACTG2 variants impair actin polymerization in sporadic megacystis microcolon intestinal hypoperistalsis syndrome.</strong> Hum. Molec. Genet. 25: 571-583, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26647307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26647307</a>] [<a href="https://doi.org/10.1093/hmg/ddv497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26647307">Halim et al. (2016)</a> was consistent with autosomal dominant inheritance. The heterozygous mutations in many families occurred de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=26647307+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>
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<p>In a 12-year-old girl and an unrelated male infant with megacystis and intestinal pseudoobstruction, <a href="#5" class="mim-tip-reference" title="Thorson, W., Diaz-Horta, O., Foster, J., II., Spiliopoulos, M., Quintero, R., Farooq, A., Blanton, S., Tekin, M. <strong>De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.</strong> Hum. Genet. 133: 737-742, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24337657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24337657</a>] [<a href="https://doi.org/10.1007/s00439-013-1406-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24337657">Thorson et al. (2014)</a> identified heterozygosity for de novo missense mutations in the ACTG2 gene, R178L (<a href="/entry/102545#0002">102545.0002</a>) and R178C (<a href="/entry/102545#0003">102545.0003</a>), respectively. Noting that the less severe phenotype of visceral myopathy (VSCM1; <a href="/entry/155310">155310</a>) is also caused by mutation in the ACTG2 gene, <a href="#5" class="mim-tip-reference" title="Thorson, W., Diaz-Horta, O., Foster, J., II., Spiliopoulos, M., Quintero, R., Farooq, A., Blanton, S., Tekin, M. <strong>De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.</strong> Hum. Genet. 133: 737-742, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24337657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24337657</a>] [<a href="https://doi.org/10.1007/s00439-013-1406-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24337657">Thorson et al. (2014)</a> suggested that MMIH and visceral myopathy represent the spectrum of a single disease, with intestinal hypoperistalsis as the common denominator. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24337657" 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="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://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 (see, e.g., <a href="/entry/102545#0003">102545.0003</a>, <a href="/entry/102545#0004">102545.0004</a>, <a href="/entry/102545#0006">102545.0006</a>, <a href="/entry/102545#0007">102545.0007</a>, and <a href="/entry/102545#0009">102545.0009</a>), of which 10 carried apparent de novo mutations. 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><a href="#2" class="mim-tip-reference" title="Halim, D., Hofstra, R. M. W., Signorile, L., Verdijk, R. M., van der Werf, C. S., Sribudiani, Y., Brouwer, R. W. W., van Ijcken, W. F. J., Dahl, N., Verheij, J. B. G. M., Baumann, C., Kerner, J., van Bever, Y., Galjart, N., Wijnen, R. M. H., Tibboel, D., Burns, A. J., Muller, F., Brooks, A. S., Alves, M. M. <strong>ACTG2 variants impair actin polymerization in sporadic megacystis microcolon intestinal hypoperistalsis syndrome.</strong> Hum. Molec. Genet. 25: 571-583, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26647307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26647307</a>] [<a href="https://doi.org/10.1093/hmg/ddv497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26647307">Halim et al. (2016)</a> screened the ACTG2 gene in a cohort of 11 patients with typical features of MMIHS and identified heterozygous missense mutations in 8 patients with sporadic disease (<a href="/entry/102545#0002">102545.0002</a>-<a href="/entry/102545#0004">102545.0004</a>, <a href="/entry/102545#0006">102545.0006</a>, and <a href="/entry/102545#0010">102545.0010</a>). The mutations were shown to have arisen de novo in the 3 probands for whom familial DNA was available. No mutations were identified in the 3 remaining patients from 2 consanguineous families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26647307" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By Sanger sequencing of the ACTG2 gene in a cohort of 7 Brazilian children with 'visceral myopathy phenotypes,' <a href="#4" 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> identified 3 unrelated patients (patients 3, 4, and 5) with MMIHS who were heterozygous for missense mutations in ACTG2 (<a href="/entry/102545#0002">102545.0002</a>, <a href="/entry/102545#0003">102545.0003</a>, and <a href="/entry/102545#0013">102545.0013</a>). The mutations arose de novo in each proband, as they were not found in the respective parents. The authors also identified a 5-year-old Brazilian girl with chronic intestinal pseudoobstruction and a heterozygous missense mutation in the ACTG2 gene (T195I; <a href="/entry/102545#0011">102545.0011</a>) <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>By whole-exome and Sanger sequencing in a cohort of 28 probands who had CIPO with or without megacystis, <a href="#3" class="mim-tip-reference" title="Milunsky, A., Baldwin, C., Zhang, X., Primack, D., Curnow, A., Milunsky, J. <strong>Diagnosis of chronic intestinal pseudo-obstruction and megacystis by sequencing the ACTG2 gene.</strong> J. Pediat. Gastroent. Nutr. 65: 384-387, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28422808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28422808</a>] [<a href="https://doi.org/10.1097/MPG.0000000000001608" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28422808">Milunsky et al. (2017)</a> identified 4 probands with MMIHS and heterozygous mutations in the ACTG2 gene: 3 probands, including 1 with an affected family member (family A), had the R257C mutation (<a href="/entry/102545#0007">102545.0007</a>), and 1 proband and 2 affected family members (family B) carried the R40H mutation (<a href="/entry/102545#0005">102545.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28422808" 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="#1" class="mim-tip-reference" title="Assia Batzir, N. A., Kishor Bhagwat, P. K., Larson, A., Akdemir, Z. C., Bagtaj, M., Bofferding, L., Bosanko, K. B., Bouassida, S., Callewaert, B., Cannon, A., Colon, Y. E., Garnica, A. D., and 25 others. <strong>Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.</strong> Hum. Mutat. 41: 641-654, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31769566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31769566</a>] [<a href="https://doi.org/10.1002/humu.23960" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31769566">Assia Batzir et al. (2020)</a> studied a cohort of 53 families with MMIHS, including the 15 ACTG2 mutation-positive families previously reported by <a href="#6" 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://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>. Mutations in the ACTG2 gene were present in 33 (62%) of the families (see, e.g., <a href="/entry/102545#0002">102545.0002</a>, <a href="/entry/102545#0003">102545.0003</a>, <a href="/entry/102545#0005">102545.0005</a>-<a href="/entry/102545#0008">102545.0008</a>, and <a href="/entry/102545#0010">102545.0010</a>). The majority of individuals who tested positive for ACTG2 variants exhibited the classic MMIHS phenotype, including a combination of symptoms suggesting bladder and intestinal dysmotility. The authors noted that ACTG2-positive patients were more likely to have more severe disease than ACTG2-negative patients. Within the ACTG2-positive group, poor outcomes, including TPN dependence, multiorgan transplantation, or death, were invariably associated with arginine missense alleles. Analysis of specific residues suggested a spectrum of severity, in which R178 involvement causes the most severe disease, with R257 next in severity, followed by R40. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=31769566+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>
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Assia Batzir, N. A., Kishor Bhagwat, P. K., Larson, A., Akdemir, Z. C., Bagtaj, M., Bofferding, L., Bosanko, K. B., Bouassida, S., Callewaert, B., Cannon, A., Colon, Y. E., Garnica, A. D., and 25 others.
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<strong>Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.</strong>
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Hum. Mutat. 41: 641-654, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31769566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31769566</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31769566" 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/10.1002/humu.23960" target="_blank">Full Text</a>]
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<a id="Halim2016" class="mim-anchor"></a>
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Halim, D., Hofstra, R. M. W., Signorile, L., Verdijk, R. M., van der Werf, C. S., Sribudiani, Y., Brouwer, R. W. W., van Ijcken, W. F. J., Dahl, N., Verheij, J. B. G. M., Baumann, C., Kerner, J., van Bever, Y., Galjart, N., Wijnen, R. M. H., Tibboel, D., Burns, A. J., Muller, F., Brooks, A. S., Alves, M. M.
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<strong>ACTG2 variants impair actin polymerization in sporadic megacystis microcolon intestinal hypoperistalsis syndrome.</strong>
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Hum. Molec. Genet. 25: 571-583, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26647307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26647307</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26647307" 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/10.1093/hmg/ddv497" target="_blank">Full Text</a>]
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Milunsky, A., Baldwin, C., Zhang, X., Primack, D., Curnow, A., Milunsky, J.
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<strong>Diagnosis of chronic intestinal pseudo-obstruction and megacystis by sequencing the ACTG2 gene.</strong>
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J. Pediat. Gastroent. Nutr. 65: 384-387, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28422808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28422808</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28422808" 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/10.1097/MPG.0000000000001608" target="_blank">Full Text</a>]
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Moreno, C. A., Metze, K., Lomazi, E. A., Bertola, D. R., Barbosa, R. H. A., Cosentino, V., Sobreira, N., Cavalcanti, D. P.
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<strong>Visceral myopathy: clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.</strong>
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Am. J. Med. Genet. 170A: 2965-2974, 2016.
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[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://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'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.37857" target="_blank">Full Text</a>]
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Thorson, W., Diaz-Horta, O., Foster, J., II., Spiliopoulos, M., Quintero, R., Farooq, A., Blanton, S., Tekin, M.
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<strong>De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.</strong>
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Hum. Genet. 133: 737-742, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24337657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24337657</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24337657" 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/10.1007/s00439-013-1406-0" target="_blank">Full Text</a>]
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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.
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<strong>Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.</strong>
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PLoS Genet. 10: e1004258, 2014. Note: Electronic Article.
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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://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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Marla J. F. O'Neill : 07/13/2021
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MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5
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Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
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Autosomal dominant
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ACTG2
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<p>A number sign (#) is used with this entry because of evidence that megacystis-microcolon-intestinal hypoperistalsis syndrome-5 (MMIHS5) is caused by heterozygous mutation in the ACTG2 gene (102545) on chromosome 2p13.</p><p>Visceral myopathy-1 (VSCM1; 155310), which overlaps phenotypically with MMIHS5, is also caused by heterozygous mutation in the ACTG2 gene.</p>
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<p>Megacystis-microcolon-intestinal hypoperistalsis syndrome-5 (MMIHS5) is a form of visceral myopathy characterized by significant inter- and intrafamilial variability, with the most severely affected patients exhibiting prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (Wangler et al., 2014). </p><p>For a general phenotypic description and discussion of genetic heterogeneity of MMIHS, see MMIHS1 (249210).</p>
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<p>Thorson et al. (2014) studied 2 children with megacystis and intestinal pseudoobstruction. The first was a girl born with megacystis and hydronephrosis as well as malrotation and pseudoobstruction of the intestine. She was dependent on TPN and developed end-stage liver disease with portal hypertension. Full-thickness biopsy of the large intestine confirmed the presence of ganglion cells; biopsy of the jejunum showed a thin outer muscular layer. At 8 months of age, she underwent en bloc transplant of stomach, liver, pancreas, and small intestine; at age 12 years, she was doing well but required intermittent urinary catheterization. The second patient was a male infant who was diagnosed at 19 weeks' gestation with megacystis, bilateral hydroureters, and anhydramnios. Postnatal evaluation revealed intestinal malrotation, microcolon, and dilated proximal small intestine. </p><p>Halim et al. (2016) reported 8 sporadic patients with 'typical' MMIHS and mutations in the ACTG2 gene. Of the 5 patients for whom information was available, prenatal findings included megacystis, hydroureter, hydronephrosis, and polyhydramnios. All patients had enlarged bladder and microcolon; 6 who were evaluated had documented hypoperistalsis; and 5 had malrotation of the intestines. Only 1 patient (S6) was alive at age 24 years, on parenteral and enteral nutrition; another (S1) died at age 23 years from multiple organ failure, as did patient S5 at age 8 months. Two others (S3 and S4) died at age 5 days and 5 months, respectively, upon discontinuation of treatment. </p><p>Moreno et al. (2016) reported 3 unrelated Brazilian children with MMIHS and mutations in ACTG2. A male infant (patient 3) and a female infant (patient 4) died despite supportive therapy, at 7 months and 11 months of age, respectively. Patient 5 was alive at 5 months of age, maintained on total parenteral nutrition. Histology of the stomach and small and large intestine in patient 4 was reported as normal, whereas histology in patient 5 showed enterocolitis. </p><p>Milunsky et al. (2017) reported 7 patients from 4 families with severe chronic intestinal pseudoobstruction (CIPO) and megacystis who had mutations in ACTG2. Megacystis was present prenatally and evident at birth in all 7 patients. Three patients died, at 6 months, 2 years, and 11.5 years of age. Four patients required long-term TPN, 1 of whom underwent multiorgan transplantation at age 38, after 35 years on TPN. Three each had gastrostomy, ileostomy, and colectomy, and 6 required lifelong bladder catheterization due to megacystis. None had microcolon. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of MMIHS5 in families reported by Wangler et al. (2014) and Halim et al. (2016) was consistent with autosomal dominant inheritance. The heterozygous mutations in many families occurred de novo. </p>
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<strong>Molecular Genetics</strong>
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<p>In a 12-year-old girl and an unrelated male infant with megacystis and intestinal pseudoobstruction, Thorson et al. (2014) identified heterozygosity for de novo missense mutations in the ACTG2 gene, R178L (102545.0002) and R178C (102545.0003), respectively. Noting that the less severe phenotype of visceral myopathy (VSCM1; 155310) is also caused by mutation in the ACTG2 gene, Thorson et al. (2014) suggested that MMIH and visceral myopathy represent the spectrum of a single disease, with intestinal hypoperistalsis as the common denominator. </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 (see, e.g., 102545.0003, 102545.0004, 102545.0006, 102545.0007, and 102545.0009), of which 10 carried apparent de novo mutations. Noting the phenotypic variability of mutation-positive patients, the authors suggested that ACTG2 is responsible for a spectrum of smooth muscle disease. </p><p>Halim et al. (2016) screened the ACTG2 gene in a cohort of 11 patients with typical features of MMIHS and identified heterozygous missense mutations in 8 patients with sporadic disease (102545.0002-102545.0004, 102545.0006, and 102545.0010). The mutations were shown to have arisen de novo in the 3 probands for whom familial DNA was available. No mutations were identified in the 3 remaining patients from 2 consanguineous families. </p><p>By Sanger sequencing of the ACTG2 gene in a cohort of 7 Brazilian children with 'visceral myopathy phenotypes,' Moreno et al. (2016) identified 3 unrelated patients (patients 3, 4, and 5) with MMIHS who were heterozygous for missense mutations in ACTG2 (102545.0002, 102545.0003, and 102545.0013). The mutations arose de novo in each proband, as they were not found in the respective parents. The authors also identified a 5-year-old Brazilian girl with chronic intestinal pseudoobstruction and a heterozygous missense mutation in the ACTG2 gene (T195I; 102545.0011) </p><p>By whole-exome and Sanger sequencing in a cohort of 28 probands who had CIPO with or without megacystis, Milunsky et al. (2017) identified 4 probands with MMIHS and heterozygous mutations in the ACTG2 gene: 3 probands, including 1 with an affected family member (family A), had the R257C mutation (102545.0007), and 1 proband and 2 affected family members (family B) carried the R40H mutation (102545.0005). </p>
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<strong>Genotype/Phenotype Correlations</strong>
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<p>Assia Batzir et al. (2020) studied a cohort of 53 families with MMIHS, including the 15 ACTG2 mutation-positive families previously reported by Wangler et al. (2014). Mutations in the ACTG2 gene were present in 33 (62%) of the families (see, e.g., 102545.0002, 102545.0003, 102545.0005-102545.0008, and 102545.0010). The majority of individuals who tested positive for ACTG2 variants exhibited the classic MMIHS phenotype, including a combination of symptoms suggesting bladder and intestinal dysmotility. The authors noted that ACTG2-positive patients were more likely to have more severe disease than ACTG2-negative patients. Within the ACTG2-positive group, poor outcomes, including TPN dependence, multiorgan transplantation, or death, were invariably associated with arginine missense alleles. Analysis of specific residues suggested a spectrum of severity, in which R178 involvement causes the most severe disease, with R257 next in severity, followed by R40. </p>
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<strong>REFERENCES</strong>
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Assia Batzir, N. A., Kishor Bhagwat, P. K., Larson, A., Akdemir, Z. C., Bagtaj, M., Bofferding, L., Bosanko, K. B., Bouassida, S., Callewaert, B., Cannon, A., Colon, Y. E., Garnica, A. D., and 25 others.
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<strong>Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.</strong>
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Hum. Mutat. 41: 641-654, 2020.
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[PubMed: 31769566]
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[Full Text: https://doi.org/10.1002/humu.23960]
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Halim, D., Hofstra, R. M. W., Signorile, L., Verdijk, R. M., van der Werf, C. S., Sribudiani, Y., Brouwer, R. W. W., van Ijcken, W. F. J., Dahl, N., Verheij, J. B. G. M., Baumann, C., Kerner, J., van Bever, Y., Galjart, N., Wijnen, R. M. H., Tibboel, D., Burns, A. J., Muller, F., Brooks, A. S., Alves, M. M.
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<strong>ACTG2 variants impair actin polymerization in sporadic megacystis microcolon intestinal hypoperistalsis syndrome.</strong>
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Hum. Molec. Genet. 25: 571-583, 2016.
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[PubMed: 26647307]
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[Full Text: https://doi.org/10.1093/hmg/ddv497]
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Milunsky, A., Baldwin, C., Zhang, X., Primack, D., Curnow, A., Milunsky, J.
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<strong>Diagnosis of chronic intestinal pseudo-obstruction and megacystis by sequencing the ACTG2 gene.</strong>
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J. Pediat. Gastroent. Nutr. 65: 384-387, 2017.
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[PubMed: 28422808]
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[Full Text: https://doi.org/10.1097/MPG.0000000000001608]
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Moreno, C. A., Metze, K., Lomazi, E. A., Bertola, D. R., Barbosa, R. H. A., Cosentino, V., Sobreira, N., Cavalcanti, D. P.
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<strong>Visceral myopathy: clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.</strong>
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Am. J. Med. Genet. 170A: 2965-2974, 2016.
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[PubMed: 27481187]
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[Full Text: https://doi.org/10.1002/ajmg.a.37857]
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Thorson, W., Diaz-Horta, O., Foster, J., II., Spiliopoulos, M., Quintero, R., Farooq, A., Blanton, S., Tekin, M.
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<strong>De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.</strong>
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Hum. Genet. 133: 737-742, 2014.
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[PubMed: 24337657]
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[Full Text: https://doi.org/10.1007/s00439-013-1406-0]
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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.
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<strong>Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.</strong>
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PLoS Genet. 10: e1004258, 2014. Note: Electronic Article.
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[PubMed: 24676022]
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[Full Text: https://doi.org/10.1371/journal.pgen.1004258]
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Marla J. F. O'Neill : 07/13/2021
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