2917 lines
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- #300048 - INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED; CIIPX
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- OMIM
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<p>
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<span class="h4">#300048</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/300048"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=516&Typ=Pat" title="Congenital short bowel syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Congenital short bowel syn… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2684&Typ=Pat" title="Chronic intestinal pseudoobstruction" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Chronic intestinal pseudoo… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1213/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/3850" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300048[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2301" title="Congenital short bowel syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Congenital short bowel syn…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2978" title="Chronic intestinal pseudoobstruction" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Chronic intestinal pseudoo…</a></div>
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</span>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080681" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/300048" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0080681" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 2301, 2978<br />
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<strong>DO:</strong> 0080681<br />
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">ICD+</a>
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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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300048
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</span>
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</span>
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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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INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED; CIIPX
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
|
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<span class="mim-font">
|
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IPOX<br />
|
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CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION; CIIP<br />
|
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INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<div>
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<a id="includedTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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CONGENITAL SHORT BOWEL SYNDROME, X-LINKED, INCLUDED
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<div>
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<br />
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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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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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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>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/857?start=-3&limit=10&highlight=857">
|
|
Xq28
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Intestinal pseudoobstruction, neuronal
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300048"> 300048 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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">
|
|
FLNA
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300017"> 300017 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/857?start=-3&limit=10&highlight=857">
|
|
Xq28
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Congenital short bowel syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300048"> 300048 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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">
|
|
FLNA
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300017"> 300017 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/300048" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/300048" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/300048" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Facial dysmorphism, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749206&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749206</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248200007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248200007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398302004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398302004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32003007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32003007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398206004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398206004</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001999" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001999</a>]</span><br /> -
|
|
Smooth philtrum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1142533&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1142533</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000319</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000319</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=64d497514ce8c2250bd637c9cb83892d" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Philtrum,Smooth-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=64d497514ce8c2250bd637c9cb83892d" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Large jaw <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4280644&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4280644</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0040309" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040309</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040309" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040309</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Low-set ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95515009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95515009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239234&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239234</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Ear,Low-Set-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Downslanting palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246800008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246800008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423110&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423110</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Patent ductus arteriosus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/83330001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">83330001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q25.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q25.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/747.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">747.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013274&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013274</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001643</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001643</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Features </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Abdominal distention <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 />
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</span>
|
|
</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>
|
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</div>
|
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<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Poor feeding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299698007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299698007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78164000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R63.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R63.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0576456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0576456</a>, <a href="https://bioportal.bioontology.org/search?q=C0232466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0232466</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011968</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011968</a>]</span><br /> -
|
|
Vomiting <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422400008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422400008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/300359004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">300359004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249497008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249497008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042963&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042963</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002013</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002013</a>]</span><br /> -
|
|
Intestinal pseudoobstruction, chronic <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/235828008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">235828008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0238062&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0238062</a>]</span><br /> -
|
|
Abnormal gastrointestinal motility <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749202&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749202</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030895" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030895</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030895" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030895</a>]</span><br /> -
|
|
Abnormal argyrophilic neurons in the myenteric and submucosal plexuses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749203&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749203</a>]</span><br /> -
|
|
No mechanical intestinal obstructive lesion <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749204&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749204</a>]</span><br /> -
|
|
Short bowel (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4476847&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4476847</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030889" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030889</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030889" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030889</a>]</span><br /> -
|
|
Gut 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 /> -
|
|
Pyloric stenosis (1 patient) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367403001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367403001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48644003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48644003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q40.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q40.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K31.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K31.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/750.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">750.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034194&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034194</a>, <a href="https://bioportal.bioontology.org/search?q=C0700639&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700639</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002021" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002021</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002021" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002021</a>]</span><br />
|
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</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
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|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hydronephrosis (1 patient) <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 />
|
|
|
|
</span>
|
|
</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>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Spastic diplegia (1 patient) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/281411007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">281411007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G80.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G80.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023882&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023882</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001264" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001264</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001264" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001264</a>]</span><br /> -
|
|
Seizures (1 patient) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</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> HEMATOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Thrombocytopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/415116008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">415116008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302215000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302215000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D69.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D69.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/287.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">287.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392386&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392386</a>, <a href="https://bioportal.bioontology.org/search?q=C0040034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span><br /> -
|
|
Large platelets <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1096367&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1096367</a>, <a href="https://bioportal.bioontology.org/search?q=C4317068&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4317068</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011877" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011877</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011877" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011877</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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- Onset in infancy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848924</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003593" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003593</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003593" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003593</a>]</span><br /> -
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Mild facial dysmorphism is associated with duplication of the FLNA gene<br />
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- Caused by mutation in the filamin A gene (FLNA, <a href="/entry/300017#0025">300017.0025</a>)<br />
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<p>A number sign (#) is used with this entry because of evidence that X-linked chronic idiopathic intestinal pseudoobstruction (CIIPX) is caused by mutation in the FLNA gene (<a href="/entry/300017">300017</a>), which encodes filamin A, on chromosome Xq28.</p>
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<p>Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion (<a href="#1" class="mim-tip-reference" title="Auricchio, A., Brancolini, V., Casari, G., Milla, P. J., Smith, V. V., Devoto, M., Ballabio, A. <strong>The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28.</strong> Am. J. Hum. Genet. 58: 743-748, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644737</a>]" pmid="8644737">Auricchio et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8644737" 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>Some primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; <a href="/entry/142623">142623</a>) and autosomal recessive visceral neuropathy (<a href="/entry/243180">243180</a>) (<a href="#11" class="mim-tip-reference" title="Tanner, M. S., Smith, B., Lloyd, J. K. <strong>Functional intestinal obstruction due to deficiency of argyrophil neurones in the myenteric plexus: familial syndrome presenting with short small bowel, malrotation, and pyloric hypertrophy.</strong> Arch. Dis. Child. 51: 837-841, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1008589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1008589</a>] [<a href="https://doi.org/10.1136/adc.51.11.837" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1008589">Tanner et al., 1976</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1008589" 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="#4" class="mim-tip-reference" title="FitzPatrick, D. R., Strain, L., Thomas, A. E., Barr, D. G. D., Todd, A., Smith, N. M., Scobie, W. G. <strong>Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder.</strong> J. Med. Genet. 34: 666-669, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9279759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9279759</a>] [<a href="https://doi.org/10.1136/jmg.34.8.666" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9279759">FitzPatrick et al. (1997)</a> reported 2 brothers and a maternal uncle with CIIP. All 3 had a patent ductus arteriosus (see <a href="/entry/607411">607411</a>), an association which <a href="#4" class="mim-tip-reference" title="FitzPatrick, D. R., Strain, L., Thomas, A. E., Barr, D. G. D., Todd, A., Smith, N. M., Scobie, W. G. <strong>Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder.</strong> J. Med. Genet. 34: 666-669, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9279759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9279759</a>] [<a href="https://doi.org/10.1136/jmg.34.8.666" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9279759">FitzPatrick et al. (1997)</a> pointed out had been reported by <a href="#6" class="mim-tip-reference" title="Harris, D. J., Ashcraft, K. W., Beatty, E. C., Holder, T. M., Leonidas, J. C. <strong>Natal teeth, patent ductus arteriosus and intestinal pseudo-obstruction: a lethal syndrome in the newborn.</strong> Clin. Genet. 9: 479-482, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1269170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1269170</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1976.tb01600.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1269170">Harris et al. (1976)</a>. The 2 brothers had chronic thrombocytopenia with large platelets which, again, <a href="#4" class="mim-tip-reference" title="FitzPatrick, D. R., Strain, L., Thomas, A. E., Barr, D. G. D., Todd, A., Smith, N. M., Scobie, W. G. <strong>Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder.</strong> J. Med. Genet. 34: 666-669, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9279759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9279759</a>] [<a href="https://doi.org/10.1136/jmg.34.8.666" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9279759">FitzPatrick et al. (1997)</a> reported was described by <a href="#9" class="mim-tip-reference" title="Pollock, I., Holmes, S. J. K., Patton, M. A., Hamilton, P. A., Stacey, T. E. <strong>Congenital intestinal pseudo-obstruction associated with a giant platelet disorder.</strong> J. Med. Genet. 28: 495-496, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1910094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1910094</a>] [<a href="https://doi.org/10.1136/jmg.28.7.495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1910094">Pollock et al. (1991)</a> in association with CIIP. The 2 brothers had mild facial dysmorphism. One of the brothers and maternal uncle had gut malrotation, which <a href="#4" class="mim-tip-reference" title="FitzPatrick, D. R., Strain, L., Thomas, A. E., Barr, D. G. D., Todd, A., Smith, N. M., Scobie, W. G. <strong>Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder.</strong> J. Med. Genet. 34: 666-669, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9279759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9279759</a>] [<a href="https://doi.org/10.1136/jmg.34.8.666" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9279759">FitzPatrick et al. (1997)</a> noted was present in the cases described by <a href="#6" class="mim-tip-reference" title="Harris, D. J., Ashcraft, K. W., Beatty, E. C., Holder, T. M., Leonidas, J. C. <strong>Natal teeth, patent ductus arteriosus and intestinal pseudo-obstruction: a lethal syndrome in the newborn.</strong> Clin. Genet. 9: 479-482, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1269170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1269170</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1976.tb01600.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1269170">Harris et al. (1976)</a>, <a href="#9" class="mim-tip-reference" title="Pollock, I., Holmes, S. J. K., Patton, M. A., Hamilton, P. A., Stacey, T. E. <strong>Congenital intestinal pseudo-obstruction associated with a giant platelet disorder.</strong> J. Med. Genet. 28: 495-496, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1910094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1910094</a>] [<a href="https://doi.org/10.1136/jmg.28.7.495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1910094">Pollock et al. (1991)</a>, and in some members of the Italian family described by <a href="#1" class="mim-tip-reference" title="Auricchio, A., Brancolini, V., Casari, G., Milla, P. J., Smith, V. V., Devoto, M., Ballabio, A. <strong>The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28.</strong> Am. J. Hum. Genet. 58: 743-748, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644737</a>]" pmid="8644737">Auricchio et al. (1996)</a>. <a href="#4" class="mim-tip-reference" title="FitzPatrick, D. R., Strain, L., Thomas, A. E., Barr, D. G. D., Todd, A., Smith, N. M., Scobie, W. G. <strong>Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder.</strong> J. Med. Genet. 34: 666-669, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9279759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9279759</a>] [<a href="https://doi.org/10.1136/jmg.34.8.666" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9279759">FitzPatrick et al. (1997)</a> suggested that gut malrotation may be a useful phenotypic marker for an X-linked form of CIIP. <a href="#4" class="mim-tip-reference" title="FitzPatrick, D. R., Strain, L., Thomas, A. E., Barr, D. G. D., Todd, A., Smith, N. M., Scobie, W. G. <strong>Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder.</strong> J. Med. Genet. 34: 666-669, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9279759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9279759</a>] [<a href="https://doi.org/10.1136/jmg.34.8.666" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9279759">FitzPatrick et al. (1997)</a> concluded that the additional clinical features in this family may be the result of an Xq28 microdeletion, or that the CIIPX gene may have a role in developmental regulation of multiple systems, with different mutations causing a different spectrum of abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1910094+8644737+1269170+9279759" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Gargiulo, A., Auricchio, R., Barone, M. V., Cotugno, G., Reardon, W., Milla, P. J., Ballabio, A., Ciccodicola, A., Auricchio, A. <strong>Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.</strong> Am. J. Hum. Genet. 80: 751-758, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17357080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17357080</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17357080[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/513321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17357080">Gargiulo et al. (2007)</a> described an affected male in the Italian family with X-linked chronic idiopathic intestinal pseudoobstruction reported by <a href="#1" class="mim-tip-reference" title="Auricchio, A., Brancolini, V., Casari, G., Milla, P. J., Smith, V. V., Devoto, M., Ballabio, A. <strong>The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28.</strong> Am. J. Hum. Genet. 58: 743-748, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644737</a>]" pmid="8644737">Auricchio et al. (1996)</a>. The patient presented at 3 days of life with bilious vomiting, and laparotomy showed a short small bowel with intestinal malrotation, pyloric hypertrophy, and an ileal volvulus. Fifteen days later, he required additional surgery for intestinal obstruction, and an ileostomy was created. Other surgical procedures were required including an ileorectal anastomosis to restore bowel continuity at age 3 years. In addition to the severe CIIP, by age 7 years, an asymmetric spastic diplegia with impairment of fine finger movements became apparent. MRI of the brain showed an abnormal intermediate signal in the peritrigonal white matter. The patient required lengthening operations for both Achilles tendons. He also had seizures, the first time after surgery during his first month of life, then again at ages 8 and 18 years. He required supplemental parenteral nutrition to maintain good health. Of the 10 affected males in 4 generations in this family, all except this patient died in the first months of life. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17357080+8644737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Congenital Short Bowel Syndrome</em></strong></p><p>
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<a href="#8" class="mim-tip-reference" title="Kern, I. B., Leece, A., Bohane, T. <strong>Congenital short gut, malrotation, and dysmotility of the small bowel.</strong> J. Pediat. Gastroent. Nutr. 11: 411-415, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2123245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2123245</a>] [<a href="https://doi.org/10.1097/00005176-199010000-00023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2123245">Kern et al. (1990)</a> reported a nonconsanguineous Italian family in which 3 male sibs were born with a short small bowel, malrotation, and functional bowel obstruction. One child was a long-term survivor. Two of the sibs presented with bilious vomiting at 1 month and 6 days of age, respectively; the latter sib passed frank blood rectally. Both had midgut volvulus. Length of the small intestine in the first sib was 112 cm from the ligament of Trietz to the ileocecal valve. The second sib required resection of a 15-cm necrotic segment of jejunum, after which the remaining small bowel measured only 55 cm from the ligament of Trietz to the ileocecal valve. Both of these sibs died in infancy. The third sib was the second male child of the couple. He presented at 3 months of age with failure to thrive, but had a formula change and did well. Following the birth of his younger brother he was reinvestigated and found to have a malrotation, for which the parents refused surgical treatment. At age 14 he had developed partial duodenal and jejunal obstruction. At laparotomy, the small intestine was found to be short (235 cm from ligament of Trietz to the ileocecal valve), dilated, and thick-walled. After Ladd's procedure and a second laparotomy, the patient was well for the subsequent 3 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2123245" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Siva, C., Brasington, R., Totty, W., Sotelo, A., Atkinson, J. <strong>Synovial lipomatosis (lipoma arborescens) affecting multiple joints in a patient with congenital short bowel syndrome.</strong> J. Rheum. 29: 1088-1092, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12022328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12022328</a>]" pmid="12022328">Siva et al. (2002)</a> reported a 35-year-old male with synovial lipomatosis and congenital short bowel syndrome. At 15 years of age the length of his small intestine was found to be 90 inches, about one-third of normal. At more than 40 years of age, the patient was doing well and the arthropathy had resolved spontaneously (<a href="#12" class="mim-tip-reference" title="van der Werf, C. S., Sribudiani, Y., Verheij, J. B. G. M., Carroll, M., O'Loughlin, E., Chen, C.-H., Brooks, A. S., Liszewski, M. K., Atkinson, J. P., Hofstra, R. M. W. <strong>Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.</strong> Genet. Med. 15: 310-313, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23037936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23037936</a>] [<a href="https://doi.org/10.1038/gim.2012.123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23037936">van der Werf et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12022328+23037936" 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="#3" class="mim-tip-reference" title="Clayton-Smith, J., Walters, S., Hobson, E., Burkitt-Wright, E., Smith, R., Toutain, A., Amiel, J., Lyonnet, S., Mansour, S., Fitzpatrick, D., Ciccone, R., Ricca, I., Zuffardi, O., Donnai, D. <strong>Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.</strong> Europ. J. Hum. Genet. 17: 434-443, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18854860/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18854860</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18854860[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2008.192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18854860">Clayton-Smith et al. (2009)</a> reported 20 males from 10 families with intestinal pseudoobstruction associated with duplications of chromosome Xq28 including the FLNA gene. The duplication was restricted to the FLNA gene alone in 2 families, including the family reported by <a href="#4" class="mim-tip-reference" title="FitzPatrick, D. R., Strain, L., Thomas, A. E., Barr, D. G. D., Todd, A., Smith, N. M., Scobie, W. G. <strong>Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder.</strong> J. Med. Genet. 34: 666-669, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9279759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9279759</a>] [<a href="https://doi.org/10.1136/jmg.34.8.666" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9279759">FitzPatrick et al. (1997)</a>. The phenotype in these patients was restricted to intestinal pseudoobstruction, patent ductus arteriosus, and thrombocytopenia with giant platelets. None of these patients had mental retardation, spasticity, or chest infections, although some had mild facial dysmorphism. The Xq28 duplication was larger in the remaining 8 families reported by <a href="#3" class="mim-tip-reference" title="Clayton-Smith, J., Walters, S., Hobson, E., Burkitt-Wright, E., Smith, R., Toutain, A., Amiel, J., Lyonnet, S., Mansour, S., Fitzpatrick, D., Ciccone, R., Ricca, I., Zuffardi, O., Donnai, D. <strong>Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.</strong> Europ. J. Hum. Genet. 17: 434-443, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18854860/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18854860</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18854860[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2008.192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18854860">Clayton-Smith et al. (2009)</a>, and may have included the MECP2 (<a href="/entry/300005">300005</a>), SLC6A8 (<a href="/entry/300036">300036</a>), L1CAM (<a href="/entry/308840">308840</a>) genes in addition to FLNA, although detailed mapping was not reported. The phenotype in all patients with larger Xq28 duplications included pseudoobstruction with severe constipation from infancy and clearly dysmorphic facies. Other common but variable features included recurrent chest infections, mental retardation, some evidence of periventricular nodular heterotopia or abnormalities of the corpus callosum, hypotonia, and spasticity. Many of these features overlapped with that of the MECP2 duplication syndrome (<a href="/entry/300260">300260</a>). <a href="#3" class="mim-tip-reference" title="Clayton-Smith, J., Walters, S., Hobson, E., Burkitt-Wright, E., Smith, R., Toutain, A., Amiel, J., Lyonnet, S., Mansour, S., Fitzpatrick, D., Ciccone, R., Ricca, I., Zuffardi, O., Donnai, D. <strong>Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.</strong> Europ. J. Hum. Genet. 17: 434-443, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18854860/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18854860</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18854860[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2008.192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18854860">Clayton-Smith et al. (2009)</a> also commented on a facial phenotype associated with Xq28 duplications: a narrow pinched appearance of the nose, deep-set eyes, prominent chin, small everted lower lip, and flat nasal bridge. The authors concluded that involvement of the FLNA gene was responsible for intestinal pseudoobstruction in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18854860+9279759" 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="Auricchio, A., Brancolini, V., Casari, G., Milla, P. J., Smith, V. V., Devoto, M., Ballabio, A. <strong>The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28.</strong> Am. J. Hum. Genet. 58: 743-748, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644737</a>]" pmid="8644737">Auricchio et al. (1996)</a> described a family in which CIIP appeared to be segregating as an X-linked recessive trait and in which they were able to map the disease locus (symbolized CIIPX by them) to Xq28. The microsatellite marker DXYS154, located in the distal part of Xq28, showed no recombination with a maximum lod score of 2.32. Multipoint analysis excluded linkage with markers spanning other regions of the X chromosome. On the basis of analysis of recombinants, <a href="#1" class="mim-tip-reference" title="Auricchio, A., Brancolini, V., Casari, G., Milla, P. J., Smith, V. V., Devoto, M., Ballabio, A. <strong>The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28.</strong> Am. J. Hum. Genet. 58: 743-748, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644737</a>]" pmid="8644737">Auricchio et al. (1996)</a> concluded that the critical region for the disease gene is limited by DXS15 toward the centromere and by the pseudoautosomal boundary toward the telomere. <a href="#1" class="mim-tip-reference" title="Auricchio, A., Brancolini, V., Casari, G., Milla, P. J., Smith, V. V., Devoto, M., Ballabio, A. <strong>The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28.</strong> Am. J. Hum. Genet. 58: 743-748, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644737</a>]" pmid="8644737">Auricchio et al. (1996)</a> raised the intriguing hypothesis that CIIPX may represent an additional susceptibility locus in Hirschsprung disease (<a href="/entry/142623">142623</a>). (Hirschsprung disease is the most common form of neuronal intestinal pseudoobstruction.) A higher penetrance of Hirschsprung disease has been observed in males compared to females in the case of both RET (<a href="/entry/164761">164761</a>) and EDNRB (<a href="/entry/131244">131244</a>) mutations (<a href="#2" class="mim-tip-reference" title="Badner, J. A., Sieber, W. K., Garver, K. L., Chakravarti, A. <strong>A genetic study of Hirschsprung disease.</strong> Am. J. Hum. Genet. 46: 568-580, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2309705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2309705</a>]" pmid="2309705">Badner et al., 1990</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2309705+8644737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the family reported by them with CIIP, <a href="#4" class="mim-tip-reference" title="FitzPatrick, D. R., Strain, L., Thomas, A. E., Barr, D. G. D., Todd, A., Smith, N. M., Scobie, W. G. <strong>Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder.</strong> J. Med. Genet. 34: 666-669, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9279759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9279759</a>] [<a href="https://doi.org/10.1136/jmg.34.8.666" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9279759">FitzPatrick et al. (1997)</a> demonstrated cosegregation of a maternal grandmaternal Xq28 haplotype with the disease by DNA analysis of the brothers, their unaffected mother, and maternal grandmother using markers DXS1108, DXS15, F8C, and DXYS154. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9279759" 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>To select candidate genes for the CIIP in the Italian family of <a href="#1" class="mim-tip-reference" title="Auricchio, A., Brancolini, V., Casari, G., Milla, P. J., Smith, V. V., Devoto, M., Ballabio, A. <strong>The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28.</strong> Am. J. Hum. Genet. 58: 743-748, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644737</a>]" pmid="8644737">Auricchio et al. (1996)</a>, <a href="#5" class="mim-tip-reference" title="Gargiulo, A., Auricchio, R., Barone, M. V., Cotugno, G., Reardon, W., Milla, P. J., Ballabio, A., Ciccodicola, A., Auricchio, A. <strong>Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.</strong> Am. J. Hum. Genet. 80: 751-758, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17357080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17357080</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17357080[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/513321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17357080">Gargiulo et al. (2007)</a> analyzed the expression in murine fetal brain and intestine of 56 genes from the critical region. They selected and sequenced 7 genes and found that 1 affected male from the Italian kindred bore a 2-bp deletion in exon 2 of the FLNA gene that was present in heterozygous state in the carrier females of the family (<a href="/entry/300017#0025">300017.0025</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17357080+8644737" 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>Because X-linked dominant nodular ventricular heterotopia (PVNH; <a href="/entry/300049">300049</a>), a central nervous system migration defect that presents with seizures in females and lethality in males, has been associated with loss-of-function FLNA mutations, <a href="#5" class="mim-tip-reference" title="Gargiulo, A., Auricchio, R., Barone, M. V., Cotugno, G., Reardon, W., Milla, P. J., Ballabio, A., Ciccodicola, A., Auricchio, A. <strong>Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.</strong> Am. J. Hum. Genet. 80: 751-758, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17357080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17357080</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17357080[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/513321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17357080">Gargiulo et al. (2007)</a> considered it notable that the male bearing the FLNA mutation had signs of central nervous system (CNS) involvement and possibly PVNH. They noted that, different from the male with PVNH and constipation described by <a href="#7" class="mim-tip-reference" title="Hehr, U., Hehr, A., Uyanik, G., Phelan, E., Winkler, J., Reardon, W. <strong>A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. (Letter)</strong> J. Med. Genet. 43: 541-544, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16299064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16299064</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16299064[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2005.038505" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16299064">Hehr et al. (2006)</a> (see <a href="/entry/300017#0024">300017.0024</a>), the phenotype in the family originally described by <a href="#1" class="mim-tip-reference" title="Auricchio, A., Brancolini, V., Casari, G., Milla, P. J., Smith, V. V., Devoto, M., Ballabio, A. <strong>The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28.</strong> Am. J. Hum. Genet. 58: 743-748, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644737</a>]" pmid="8644737">Auricchio et al. (1996)</a> was most distinguished by severe CIIP, present at birth, that was lethal unless promptly corrected by surgery. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17357080+8644737+16299064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Congenital Short Bowel Syndrome</em></strong></p><p>
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<a href="#12" class="mim-tip-reference" title="van der Werf, C. S., Sribudiani, Y., Verheij, J. B. G. M., Carroll, M., O'Loughlin, E., Chen, C.-H., Brooks, A. S., Liszewski, M. K., Atkinson, J. P., Hofstra, R. M. W. <strong>Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.</strong> Genet. Med. 15: 310-313, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23037936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23037936</a>] [<a href="https://doi.org/10.1038/gim.2012.123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23037936">Van der Werf et al. (2013)</a> reported that the sibs reported by <a href="#8" class="mim-tip-reference" title="Kern, I. B., Leece, A., Bohane, T. <strong>Congenital short gut, malrotation, and dysmotility of the small bowel.</strong> J. Pediat. Gastroent. Nutr. 11: 411-415, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2123245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2123245</a>] [<a href="https://doi.org/10.1097/00005176-199010000-00023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2123245">Kern et al. (1990)</a> and the unrelated singleton reported by <a href="#10" class="mim-tip-reference" title="Siva, C., Brasington, R., Totty, W., Sotelo, A., Atkinson, J. <strong>Synovial lipomatosis (lipoma arborescens) affecting multiple joints in a patient with congenital short bowel syndrome.</strong> J. Rheum. 29: 1088-1092, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12022328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12022328</a>]" pmid="12022328">Siva et al. (2002)</a> with X-linked congenital short bowel syndrome all had the same 2-basepair deletion in FLNA (<a href="/entry/300017#0035">300017.0035</a>). In the family, all obligate carriers were heterozygous for the mutation; in the isolated male, the mutation had occurred as a de novo event. <a href="#12" class="mim-tip-reference" title="van der Werf, C. S., Sribudiani, Y., Verheij, J. B. G. M., Carroll, M., O'Loughlin, E., Chen, C.-H., Brooks, A. S., Liszewski, M. K., Atkinson, J. P., Hofstra, R. M. W. <strong>Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.</strong> Genet. Med. 15: 310-313, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23037936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23037936</a>] [<a href="https://doi.org/10.1038/gim.2012.123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23037936">Van der Werf et al. (2013)</a> stated that they could not exclude involvement of the central nervous system in these patients because no magnetic resonance imaging brain scans were available. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12022328+2123245+23037936" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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[<a href="https://doi.org/10.1038/ejhg.2008.192" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.34.8.666" target="_blank">Full Text</a>]
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Gargiulo, A., Auricchio, R., Barone, M. V., Cotugno, G., Reardon, W., Milla, P. J., Ballabio, A., Ciccodicola, A., Auricchio, A.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17357080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17357080</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17357080[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17357080" 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/10.1086/513321" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1269170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1269170</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1269170" 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/10.1111/j.1399-0004.1976.tb01600.x" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16299064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16299064</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16299064[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16299064" 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/10.1136/jmg.2005.038505" target="_blank">Full Text</a>]
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<a id="Kern1990" class="mim-anchor"></a>
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Kern, I. B., Leece, A., Bohane, T.
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<strong>Congenital short gut, malrotation, and dysmotility of the small bowel.</strong>
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J. Pediat. Gastroent. Nutr. 11: 411-415, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2123245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2123245</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2123245" 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/10.1097/00005176-199010000-00023" target="_blank">Full Text</a>]
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Pollock, I., Holmes, S. J. K., Patton, M. A., Hamilton, P. A., Stacey, T. E.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1910094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1910094</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1910094" 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/10.1136/jmg.28.7.495" target="_blank">Full Text</a>]
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Siva, C., Brasington, R., Totty, W., Sotelo, A., Atkinson, J.
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<strong>Synovial lipomatosis (lipoma arborescens) affecting multiple joints in a patient with congenital short bowel syndrome.</strong>
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J. Rheum. 29: 1088-1092, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12022328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12022328</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12022328" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Tanner, M. S., Smith, B., Lloyd, J. K.
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<strong>Functional intestinal obstruction due to deficiency of argyrophil neurones in the myenteric plexus: familial syndrome presenting with short small bowel, malrotation, and pyloric hypertrophy.</strong>
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Arch. Dis. Child. 51: 837-841, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1008589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1008589</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1008589" 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/10.1136/adc.51.11.837" target="_blank">Full Text</a>]
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van der Werf, C. S., Sribudiani, Y., Verheij, J. B. G. M., Carroll, M., O'Loughlin, E., Chen, C.-H., Brooks, A. S., Liszewski, M. K., Atkinson, J. P., Hofstra, R. M. W.
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<strong>Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.</strong>
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Genet. Med. 15: 310-313, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23037936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23037936</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23037936" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/gim.2012.123" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 5/2/2013
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Cassandra L. Kniffin - updated : 4/17/2009<br>Victor A. McKusick - updated : 3/27/2007<br>Victor A. McKusick - updated : 12/1/2004<br>Michael J. Wright - updated : 2/11/1998
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VIctor A. McKusick : 4/25/1996
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carol : 09/13/2024
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alopez : 09/19/2016<br>carol : 07/09/2013<br>alopez : 5/2/2013<br>wwang : 4/30/2009<br>ckniffin : 4/17/2009<br>alopez : 3/28/2007<br>terry : 3/27/2007<br>tkritzer : 12/8/2004<br>tkritzer : 12/8/2004<br>terry : 12/1/2004<br>joanna : 3/18/2004<br>mgross : 12/10/2002<br>dholmes : 3/9/1998<br>alopez : 2/18/1998<br>terry : 2/11/1998<br>terry : 5/2/1996<br>mark : 4/29/1996<br>mark : 4/25/1996
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<span class="mim-font">
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<strong>#</strong> 300048
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INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED; CIIPX
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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IPOX<br />
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CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION; CIIP<br />
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INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT
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Other entities represented in this entry:
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<span class="h3 mim-font">
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CONGENITAL SHORT BOWEL SYNDROME, X-LINKED, INCLUDED
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<strong>ORPHA:</strong> 2301, 2978;
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<strong>DO:</strong> 0080681;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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Xq28
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<span class="mim-font">
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Intestinal pseudoobstruction, neuronal
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<span class="mim-font">
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300048
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X-linked recessive
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<span class="mim-font">
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3
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FLNA
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300017
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Xq28
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Congenital short bowel syndrome
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<span class="mim-font">
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300048
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X-linked recessive
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<span class="mim-font">
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3
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FLNA
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300017
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that X-linked chronic idiopathic intestinal pseudoobstruction (CIIPX) is caused by mutation in the FLNA gene (300017), which encodes filamin A, on chromosome Xq28.</p>
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<strong>Description</strong>
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<p>Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion (Auricchio et al., 1996). </p><p>Some primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; 142623) and autosomal recessive visceral neuropathy (243180) (Tanner et al., 1976). </p>
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<strong>Clinical Features</strong>
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<p>FitzPatrick et al. (1997) reported 2 brothers and a maternal uncle with CIIP. All 3 had a patent ductus arteriosus (see 607411), an association which FitzPatrick et al. (1997) pointed out had been reported by Harris et al. (1976). The 2 brothers had chronic thrombocytopenia with large platelets which, again, FitzPatrick et al. (1997) reported was described by Pollock et al. (1991) in association with CIIP. The 2 brothers had mild facial dysmorphism. One of the brothers and maternal uncle had gut malrotation, which FitzPatrick et al. (1997) noted was present in the cases described by Harris et al. (1976), Pollock et al. (1991), and in some members of the Italian family described by Auricchio et al. (1996). FitzPatrick et al. (1997) suggested that gut malrotation may be a useful phenotypic marker for an X-linked form of CIIP. FitzPatrick et al. (1997) concluded that the additional clinical features in this family may be the result of an Xq28 microdeletion, or that the CIIPX gene may have a role in developmental regulation of multiple systems, with different mutations causing a different spectrum of abnormalities. </p><p>Gargiulo et al. (2007) described an affected male in the Italian family with X-linked chronic idiopathic intestinal pseudoobstruction reported by Auricchio et al. (1996). The patient presented at 3 days of life with bilious vomiting, and laparotomy showed a short small bowel with intestinal malrotation, pyloric hypertrophy, and an ileal volvulus. Fifteen days later, he required additional surgery for intestinal obstruction, and an ileostomy was created. Other surgical procedures were required including an ileorectal anastomosis to restore bowel continuity at age 3 years. In addition to the severe CIIP, by age 7 years, an asymmetric spastic diplegia with impairment of fine finger movements became apparent. MRI of the brain showed an abnormal intermediate signal in the peritrigonal white matter. The patient required lengthening operations for both Achilles tendons. He also had seizures, the first time after surgery during his first month of life, then again at ages 8 and 18 years. He required supplemental parenteral nutrition to maintain good health. Of the 10 affected males in 4 generations in this family, all except this patient died in the first months of life. </p><p><strong><em>Congenital Short Bowel Syndrome</em></strong></p><p>
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Kern et al. (1990) reported a nonconsanguineous Italian family in which 3 male sibs were born with a short small bowel, malrotation, and functional bowel obstruction. One child was a long-term survivor. Two of the sibs presented with bilious vomiting at 1 month and 6 days of age, respectively; the latter sib passed frank blood rectally. Both had midgut volvulus. Length of the small intestine in the first sib was 112 cm from the ligament of Trietz to the ileocecal valve. The second sib required resection of a 15-cm necrotic segment of jejunum, after which the remaining small bowel measured only 55 cm from the ligament of Trietz to the ileocecal valve. Both of these sibs died in infancy. The third sib was the second male child of the couple. He presented at 3 months of age with failure to thrive, but had a formula change and did well. Following the birth of his younger brother he was reinvestigated and found to have a malrotation, for which the parents refused surgical treatment. At age 14 he had developed partial duodenal and jejunal obstruction. At laparotomy, the small intestine was found to be short (235 cm from ligament of Trietz to the ileocecal valve), dilated, and thick-walled. After Ladd's procedure and a second laparotomy, the patient was well for the subsequent 3 years. </p><p>Siva et al. (2002) reported a 35-year-old male with synovial lipomatosis and congenital short bowel syndrome. At 15 years of age the length of his small intestine was found to be 90 inches, about one-third of normal. At more than 40 years of age, the patient was doing well and the arthropathy had resolved spontaneously (van der Werf et al., 2013). </p>
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<strong>Cytogenetics</strong>
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<p>Clayton-Smith et al. (2009) reported 20 males from 10 families with intestinal pseudoobstruction associated with duplications of chromosome Xq28 including the FLNA gene. The duplication was restricted to the FLNA gene alone in 2 families, including the family reported by FitzPatrick et al. (1997). The phenotype in these patients was restricted to intestinal pseudoobstruction, patent ductus arteriosus, and thrombocytopenia with giant platelets. None of these patients had mental retardation, spasticity, or chest infections, although some had mild facial dysmorphism. The Xq28 duplication was larger in the remaining 8 families reported by Clayton-Smith et al. (2009), and may have included the MECP2 (300005), SLC6A8 (300036), L1CAM (308840) genes in addition to FLNA, although detailed mapping was not reported. The phenotype in all patients with larger Xq28 duplications included pseudoobstruction with severe constipation from infancy and clearly dysmorphic facies. Other common but variable features included recurrent chest infections, mental retardation, some evidence of periventricular nodular heterotopia or abnormalities of the corpus callosum, hypotonia, and spasticity. Many of these features overlapped with that of the MECP2 duplication syndrome (300260). Clayton-Smith et al. (2009) also commented on a facial phenotype associated with Xq28 duplications: a narrow pinched appearance of the nose, deep-set eyes, prominent chin, small everted lower lip, and flat nasal bridge. The authors concluded that involvement of the FLNA gene was responsible for intestinal pseudoobstruction in these patients. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>Auricchio et al. (1996) described a family in which CIIP appeared to be segregating as an X-linked recessive trait and in which they were able to map the disease locus (symbolized CIIPX by them) to Xq28. The microsatellite marker DXYS154, located in the distal part of Xq28, showed no recombination with a maximum lod score of 2.32. Multipoint analysis excluded linkage with markers spanning other regions of the X chromosome. On the basis of analysis of recombinants, Auricchio et al. (1996) concluded that the critical region for the disease gene is limited by DXS15 toward the centromere and by the pseudoautosomal boundary toward the telomere. Auricchio et al. (1996) raised the intriguing hypothesis that CIIPX may represent an additional susceptibility locus in Hirschsprung disease (142623). (Hirschsprung disease is the most common form of neuronal intestinal pseudoobstruction.) A higher penetrance of Hirschsprung disease has been observed in males compared to females in the case of both RET (164761) and EDNRB (131244) mutations (Badner et al., 1990). </p><p>In the family reported by them with CIIP, FitzPatrick et al. (1997) demonstrated cosegregation of a maternal grandmaternal Xq28 haplotype with the disease by DNA analysis of the brothers, their unaffected mother, and maternal grandmother using markers DXS1108, DXS15, F8C, and DXYS154. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>To select candidate genes for the CIIP in the Italian family of Auricchio et al. (1996), Gargiulo et al. (2007) analyzed the expression in murine fetal brain and intestine of 56 genes from the critical region. They selected and sequenced 7 genes and found that 1 affected male from the Italian kindred bore a 2-bp deletion in exon 2 of the FLNA gene that was present in heterozygous state in the carrier females of the family (300017.0025). </p><p>Because X-linked dominant nodular ventricular heterotopia (PVNH; 300049), a central nervous system migration defect that presents with seizures in females and lethality in males, has been associated with loss-of-function FLNA mutations, Gargiulo et al. (2007) considered it notable that the male bearing the FLNA mutation had signs of central nervous system (CNS) involvement and possibly PVNH. They noted that, different from the male with PVNH and constipation described by Hehr et al. (2006) (see 300017.0024), the phenotype in the family originally described by Auricchio et al. (1996) was most distinguished by severe CIIP, present at birth, that was lethal unless promptly corrected by surgery. </p><p><strong><em>Congenital Short Bowel Syndrome</em></strong></p><p>
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Van der Werf et al. (2013) reported that the sibs reported by Kern et al. (1990) and the unrelated singleton reported by Siva et al. (2002) with X-linked congenital short bowel syndrome all had the same 2-basepair deletion in FLNA (300017.0035). In the family, all obligate carriers were heterozygous for the mutation; in the isolated male, the mutation had occurred as a de novo event. Van der Werf et al. (2013) stated that they could not exclude involvement of the central nervous system in these patients because no magnetic resonance imaging brain scans were available. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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<p />
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<p class="mim-text-font">
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Auricchio, A., Brancolini, V., Casari, G., Milla, P. J., Smith, V. V., Devoto, M., Ballabio, A.
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<strong>The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28.</strong>
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Am. J. Hum. Genet. 58: 743-748, 1996.
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[PubMed: 8644737]
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</p>
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<li>
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<p class="mim-text-font">
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Badner, J. A., Sieber, W. K., Garver, K. L., Chakravarti, A.
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<strong>A genetic study of Hirschsprung disease.</strong>
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Am. J. Hum. Genet. 46: 568-580, 1990.
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[PubMed: 2309705]
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</p>
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<li>
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<p class="mim-text-font">
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Clayton-Smith, J., Walters, S., Hobson, E., Burkitt-Wright, E., Smith, R., Toutain, A., Amiel, J., Lyonnet, S., Mansour, S., Fitzpatrick, D., Ciccone, R., Ricca, I., Zuffardi, O., Donnai, D.
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<strong>Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.</strong>
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Europ. J. Hum. Genet. 17: 434-443, 2009.
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[PubMed: 18854860]
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[Full Text: https://doi.org/10.1038/ejhg.2008.192]
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</p>
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<li>
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<p class="mim-text-font">
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FitzPatrick, D. R., Strain, L., Thomas, A. E., Barr, D. G. D., Todd, A., Smith, N. M., Scobie, W. G.
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<strong>Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder.</strong>
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J. Med. Genet. 34: 666-669, 1997.
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[PubMed: 9279759]
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<strong>A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. (Letter)</strong>
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Kern, I. B., Leece, A., Bohane, T.
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Tanner, M. S., Smith, B., Lloyd, J. K.
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van der Werf, C. S., Sribudiani, Y., Verheij, J. B. G. M., Carroll, M., O'Loughlin, E., Chen, C.-H., Brooks, A. S., Liszewski, M. K., Atkinson, J. P., Hofstra, R. M. W.
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