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- #222470 - TRICHOHEPATOENTERIC SYNDROME 1; THES1
- OMIM
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<span class="h4">#222470</span>
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/222470"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS222470"> <strong>Phenotypic Series</strong> </a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<div><a href="https://clinicaltrials.gov/search?cond=TRICHOHEPATOENTERIC SYNDROME" 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="http://www.informatics.jax.org/disease/222470" 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>
<div><a href="https://wormbase.org/resources/disease/DOID:0111415" 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>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<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.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 703406006<br />
<strong>ORPHA:</strong> 84064<br />
<strong>DO:</strong> 0111415<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
222470
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
TRICHOHEPATOENTERIC SYNDROME 1; THES1
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
THE SYNDROME<br />
DIARRHEA, SYNDROMIC<br />
DIARRHEA, FATAL INFANTILE, WITH TRICHORRHEXIS NODOSA
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/329?start=-3&limit=10&highlight=329">
5q15
</a>
</span>
</td>
<td>
<span class="mim-font">
Trichohepatoenteric syndrome 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/222470"> 222470 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
SKIC3
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614589"> 614589 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/222470" 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>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS222470" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<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/222470" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/222470" 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">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Decreased height <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/444000005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">444000005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2732728&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2732728</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Weight </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Low birth weight <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276610007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276610007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267258002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267258002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024032&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024032</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001518</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br /> -
Intrauterine growth retardation (IUGR) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22033007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22033007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/764.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.90</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/764.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015934&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015934</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Prominent forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837260</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011220" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011220</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011220" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011220</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=a2091161c29564b62e12b608022a4044" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Forehead,Prominent-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=a2091161c29564b62e12b608022a4044&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Square forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673741&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673741</a>]</span><br /> -
Prominent cheeks <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865298&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865298</a>]</span><br /> -
Flat supraorbital ridges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861869&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861869</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009891" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009891</a>]</span><br /> -
Long philtrum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865014&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865014</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000343" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000343</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000343" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000343</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6e8169f9668cf95ffe7aad93a28f672b" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Philtrum,Long-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=6e8169f9668cf95ffe7aad93a28f672b&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><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="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ear,Low-Set-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Simple ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253255002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253255002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0020206" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0020206</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0020206" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0020206</a>]</span><br /> -
Small ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35045004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35045004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/744.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">744.23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152423&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152423</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008551" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008551</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008551" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008551</a>]</span><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="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Prominent eyes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837760&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837760</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000520" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000520</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000520" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000520</a>]</span><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>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Flat, broad nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835453</a>]</span><br /> -
Upturned nose <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/708670007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">708670007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840077&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840077</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small mouth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14582003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14582003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q18.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q18.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/744.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">744.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000160" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000160</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000160" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000160</a>]</span><br /> -
Large mouth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40159009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40159009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q18.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q18.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/744.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">744.83</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024433&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024433</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000154" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000154</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000154" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000154</a>]</span><br /> -
Cleft uvula <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18910001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18910001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266122&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266122</a>, <a href="https://bioportal.bioontology.org/search?q=C4551488&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551488</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000193" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000193</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000193" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000193</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3c22579bdef4e88303964de87353ca6f" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Uvula,Cleft-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=3c22579bdef4e88303964de87353ca6f&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Aortic insufficiency (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60234000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60234000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003504&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003504</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001659" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001659</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001659" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001659</a>]</span><br /> -
Tetralogy of Fallot (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86299006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86299006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0039685&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039685</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001636" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001636</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001636" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001636</a>]</span><br /> -
Ventricular septal defect (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30288003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30288003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253549006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253549006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/768552007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">768552007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018818</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span><br /> -
Pulmonary stenosis (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56786000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56786000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1956257&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1956257</a>, <a href="https://bioportal.bioontology.org/search?q=C0034089&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034089</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001642" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001642</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001642" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001642</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Liver </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cholestatic jaundice <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59848001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59848001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44018007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44018007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022354</a>]</span><br /> -
Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br /> -
Cirrhosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/19943007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">19943007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.60</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023890&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023890</a>, <a href="https://bioportal.bioontology.org/search?q=C1623038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1623038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001394</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001394</a>]</span><br /> -
Progressive liver failure <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675626&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675626</a>]</span><br /> -
Increased iron in hepatocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673738</a>]</span><br /> -
Liver fibrosis with nodular regeneration, cholestasis, ductular proliferation, and iron deposition <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749679&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749679</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Pancreas </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Islet cell hyperplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42681006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42681006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E16.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E16.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027773&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027773</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034346" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034346</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Diarrhea, secretory, severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673740&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673740</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15699003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15699003</a>]</span><br /> -
Villous atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275403002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275403002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0554101&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0554101</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011473" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011473</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011473" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011473</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cortical microcysts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865877&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865877</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004734</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004734</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Patchy hyperpigmentation of trunk and legs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775158&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775158</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Thin, sparse hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860844&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860844</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008070" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008070</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008070" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008070</a>]</span><br /> -
Curly hair <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/225570000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">225570000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0558165&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0558165</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002212" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002212</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002212" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002212</a>]</span><br /> -
Brittle hair <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25159003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25159003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L67.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L67.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263490&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263490</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002299" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002299</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002299" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002299</a>]</span><br /> -
Woolly hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0343073&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0343073</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002224" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002224</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002224" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002224</a>]</span><br /> -
Trichorrhexis nodosa <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/238736006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">238736006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L67.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L67.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263485</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009886" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009886</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009886" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009886</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Mental impairment <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228150001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228150001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/419284004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">419284004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F79" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F79</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.97" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.97</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0278061&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0278061</a>, <a href="https://bioportal.bioontology.org/search?q=C1306341&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1306341</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033667" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033667</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033667" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033667</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> METABOLIC FEATURES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Neonatal hemochromatosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6160004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6160004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/P78.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">P78.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0268059&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268059</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEMATOLOGY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Thrombocytosis (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6631009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6631009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D75.839" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D75.839</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D75.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D75.83</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0836924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0836924</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001894" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001894</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001894" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001894</a>]</span><br /> -
Large platelets (in some patients) <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 />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> IMMUNOLOGY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Low immunoglobulins <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5241391&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5241391</a>]</span><br /> -
Low natural killer cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775815&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775815</a>]</span><br /> -
Defective antibody response <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673743&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673743</a>]</span><br /> -
Defective antigen-specific skin response <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673744&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673744</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> PRENATAL MANIFESTATIONS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Intrauterine growth retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22033007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22033007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/764.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.90</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/764.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015934&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015934</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Amniotic Fluid </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Polyhydramnios <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86203003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86203003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/O40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O40</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/657.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">657.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/657" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">657</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020224</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001561" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001561</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001561" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001561</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Placenta & Umbilical Cord </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Large placenta <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0566693&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0566693</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006267" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006267</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006267" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006267</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Hypoalbuminemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/119247004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">119247004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1153477009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1153477009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3665623&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665623</a>, <a href="https://bioportal.bioontology.org/search?q=C0239981&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239981</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003073" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003073</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003073" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003073</a>]</span><br /> -
Galactosuria without galactosemia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673745</a>]</span><br /> -
Hypermethioninemia, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673746&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673746</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57835009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57835009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/124283007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">124283007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43123004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43123004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E72.19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E72.19</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003235" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003235</a>]</span><br /> -
Increased serum methionine (reported in 2 cases) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968648&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968648</a>]</span><br /> -
Abnormal serum liver enzyme levels <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673748</a>]</span><br /> -
Elevated ferritin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0743912&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0743912</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003281" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003281</a>]</span><br /> -
Decreased transferrin Increased serum iron <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673749&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673749</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Onset usually in first month of life<br /> -
Patients need lifelong total parenteral nutrition<br /> -
Often fatal due in infancy due to intractable diarrhea<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the SKI3 subunit of superkiller complex gene (SKIC3, <a href="/entry/614589#0001">614589.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Trichohepatoenteric syndrome
- <a href="/phenotypicSeries/PS222470">PS222470</a>
- 2 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/329?start=-3&limit=10&highlight=329"> 5q15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/222470"> Trichohepatoenteric syndrome 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/222470"> 222470 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614589"> SKIC3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614589"> 614589 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/345?start=-3&limit=10&highlight=345"> 6p21.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614602"> Trichohepatoenteric syndrome 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614602"> 614602 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600478"> SKIC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600478"> 600478 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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</div>
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<div>
<br />
</div>
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<p>A number sign (#) is used with this entry because of evidence that trichohepatoenteric syndrome-1 (THES1) is caused by homozygous or compound heterozygous mutation in the TTC37 gene (SKIC3; <a href="/entry/614589">614589</a>) on chromosome 5q15.</p>
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<p>Although the spectrum of phenotypic expression in trichohepatoenteric syndrome (THES) is broad, the characteristic features include intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhea in infancy requiring total parenteral nutrition, and immunodepression. Hepatic involvement contributes to the poor prognosis of affected patients (summary by <a href="#4" class="mim-tip-reference" title="Fabre, A., Andre, N., Breton, A., Broue, P., Badens, C., Roquelaure, B. &lt;strong&gt;Intractable diarrhea with &#x27;phenotypic anomalies&#x27; and tricho-hepato-enteric syndrome: two names for the same disorder.&lt;/strong&gt; Am. J. Med. Genet. 143A: 584-588, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17318842/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17318842&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31634&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17318842">Fabre et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17318842" 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>Genetic Heterogeneity of Trichohepatoenteric Syndrome</em></strong></p><p>
Trichohepatoenteric syndrome-2 (THES2; <a href="/entry/614602">614602</a>) is caused by mutation in the SKIV2L gene (SKIC2; <a href="/entry/600478">600478</a>) on chromosome 6p21.</p><p><strong><em>Reviews</em></strong></p><p>
<a href="#2" class="mim-tip-reference" title="Bourgeois, P., Esteve, C., Chaix, C., Beroud, C., Levy, N., THES Clinical Consortium, Fabre, A., Badens, C. &lt;strong&gt;Tricho-hepato-enteric syndrome mutation update: mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.&lt;/strong&gt; Hum. Mutat. 39: 774-789, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29527791/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;29527791&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.23418&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="29527791">Bourgeois et al. (2018)</a> analyzed a cohort of 96 patients with THES from 85 different families, drawing from published reports (37 patients) and their own recruitment (59 patients). Approximately two-thirds of the patients carried biallelic TTC37 mutations, and one-third had SKIVL2 mutations; in 8 (8.3%) of the patients, only 1 mutation could be identified. Intractable diarrhea was present in 100% of patients regardless of genotype, with hair abnormalities (woolly, brittle, easily removable) present in 90%. Facial dysmorphisms were observed in 84% of clinically described patients, comprising primarily large forehead, broad nasal root, and hypertelorism. Intrauterine growth retardation was frequent, seen in 70% of TTC37-mutated patients and 86% of SKIV2L-mutated patients; however, there was no significant difference in postnatal growth between the 2 groups. Liver disease was common, and more frequent in patients with mutation in SKIV2L (88%) than in TTC37 (51%); findings ranged from elevated liver enzymes and hepatomegaly to fibrosis and cirrhosis. Immunodeficiency was reported in about half of clinically explored patients, presenting as low immunoglobulin count or lack of antibody response to immunization. In addition, approximately 40% to 50% of patients exhibited dermatologic abnormalities, mostly cafe-au-lait spots located on the lower limbs. Overall, the authors noted that THES patients with mutation in either gene exhibit remarkably similar clinical signs, involving primarily the gastrointestinal tract, hair, and face, and are indistinguishable in clinical practice. However, a few differences emerged from analysis of the cohort, with SKIV2L-associated THES showing an earlier onset and/or greater severity, with more severe liver disease and significantly smaller height and weight at birth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29527791" 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="#12" class="mim-tip-reference" title="Stankler, L., Lloyd, D., Pollitt, R. J., Gray, E. S., Thom, H., Russell, G. &lt;strong&gt;Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome.&lt;/strong&gt; Arch. Dis. Child. 57: 212-216, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7073301/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7073301&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/adc.57.3.212&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7073301">Stankler et al. (1982)</a> reported a seemingly 'new,' presumably autosomal recessive disorder in a sister and brother who died at 33 and 87 days of age, respectively, with severe unexplained diarrhea. Both were of low birth weight for dates and had large, low-set, simple ears, flat nasal bridge, and large mouth. Both had woolly, easily removed black hair showing an abnormality the authors dubbed 'trichorrhexis blastysis.' By scanning microscopy, the hairs showed projections at multiple sites arising from the convex surface of a kinked hair and suggesting buds (Gr. blastosis = bud). The hair had a low content of cystine and an abnormal content of several other amino acids. Both parents had normal hair microscopically and chemically. In both sibs, the diarrhea began in the third week of life and was preceded by excoriated buttocks. Both had galactosuria without galactosemia. At autopsy both had hepatic fibrosis and hemosiderosis and islet cell hyperplasia. Menkes disease (<a href="/entry/309400">309400</a>) and argininosuccinic aciduria (<a href="/entry/207900">207900</a>), which have somewhat similar findings in the hair, were excluded by chemical tests. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7073301" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Girault, D., Goulet, O., Le Deist, F., Brousse, N., Colomb, V., Cesarini, J.-P., de Potter, S., Canioni, D., Griscelli, C., Fischer, A., Ricour, C. &lt;strong&gt;Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency.&lt;/strong&gt; J. Pediat. 125: 36-42, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8021782/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8021782&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(94)70118-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8021782">Girault et al. (1994)</a> reported 8 children with severe secretory diarrhea beginning in the first 6 months of life (less than 1 month in 6 cases). All were small for gestational age and had facial dysmorphism and woolly, easily removable hair with trichorrhexis nodosa. Two children were from consanguineous marriages. Diarrhea was refractive to therapy, including bowel rest. All patients had jejunal biopsies that showed total or subtotal villous atrophy, defective antigen-specific skin tests, and defective antibody responses despite normal serum immunoglobulin levels. Two patients had hepatic cirrhosis, and 3 children had mental retardation. At the time of the report, 5 patients had died between the ages of 2 and 5 years, 2 were fed enterally, and 1 continued to receive total parenteral nutrition. <a href="#1" class="mim-tip-reference" title="Barabino, A. V., Torrente, F., Castellano, E., Erba, D., Calvi, A., Gandullia, P. &lt;strong&gt;&#x27;Syndromic diarrhea&#x27; may have better outcome than previously reported.&lt;/strong&gt; J. Pediat. 144: 553-554, 2004. Note: Erratum: J. Pediat. 144: 838 only, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15069414/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15069414&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.jpeds.2004.01.026&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15069414">Barabino et al. (2004)</a> reported follow-up of the patient dependent on parenteral nutrition reported by <a href="#6" class="mim-tip-reference" title="Girault, D., Goulet, O., Le Deist, F., Brousse, N., Colomb, V., Cesarini, J.-P., de Potter, S., Canioni, D., Griscelli, C., Fischer, A., Ricour, C. &lt;strong&gt;Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency.&lt;/strong&gt; J. Pediat. 125: 36-42, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8021782/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8021782&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(94)70118-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8021782">Girault et al. (1994)</a>. At age 6 years, she achieved intestinal autonomy with discontinuation of the parenteral nutrition. At age 14 years, she had mild psychomotor and pubertal delay. She had chronic malabsorptive diarrhea, hypoalbuminemia, iron-deficiency anemia, osteoporosis, and impaired intestinal permeability. Immunologic defect was still present, but no other infections were recorded. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8021782+15069414" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Verloes, A., Lombet, J., Lambert, Y., Hubert, A.-F., Deprez, M., Fridman, V., Gosseye, S., Rigo, J., Sokal, E. &lt;strong&gt;Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies.&lt;/strong&gt; Am. J. Med. Genet. 68: 391-395, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9021008/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9021008&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19970211)68:4&lt;391::aid-ajmg3&gt;3.0.co;2-p&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9021008">Verloes et al. (1997)</a> used the term 'tricho-hepato-enteric syndrome' to describe the disorder in a brother and sister who were noted prenatally to have intrauterine growth retardation, hydramnios, and placental hyperplasia. Both had intractable diarrhea with normal histologic and enzymologic studies. Facial anomalies included hypertelorism, upturned noses, small mouths, and low-set ears. Hair texture and pattern were abnormal. Neurologically, they appeared grossly normal. The sister was noted to have cholestatic jaundice and hepatomegaly at 2 months of age, whereas the brother was noted to have hepatic dysfunction at birth with a high alpha-fetoprotein level. He also had mild and delayed hypermethioninemia. Both died at about 6 months of age. Pathologic examination of both children showed a similar pattern of multivisceral iron deposition compatible with a diagnosis of neonatal hemochromatosis, although the clinical picture of an asymptomatic neonatal period was unusual. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9021008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Goulet, O. J., Brousse, N., Canioni, D., Walker-Smith, J. A., Schmitz, J., Phillips, A. D. &lt;strong&gt;Syndrome of intractable diarrhoea with persistent villous atrophy in early childhood: a clinicopathological survey of 47 cases.&lt;/strong&gt; J. Pediat. Gastroent. Nutr. 26: 151-161, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9481629/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9481629&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00005176-199802000-00006&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9481629">Goulet et al. (1998)</a> studied the clinical and histopathologic features of 47 infants with intractable diarrhea and villous atrophy of varying degrees, dividing them into 2 groups, with or without lamina propria mononuclear cell infiltration. Of the 18 patients in the latter group, 8 had phenotypic abnormalities including facial dysmorphism and abnormal hair; 6 of the 8 patients had previously been reported by <a href="#6" class="mim-tip-reference" title="Girault, D., Goulet, O., Le Deist, F., Brousse, N., Colomb, V., Cesarini, J.-P., de Potter, S., Canioni, D., Griscelli, C., Fischer, A., Ricour, C. &lt;strong&gt;Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency.&lt;/strong&gt; J. Pediat. 125: 36-42, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8021782/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8021782&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(94)70118-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8021782">Girault et al. (1994)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9481629+8021782" 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="Landers, M. C., Schroeder, T. L. &lt;strong&gt;Intractable diarrhea of infancy with facial dysmorphism, trichorrhexis nodosa, and cirrhosis.&lt;/strong&gt; Pediat. Derm. 20: 432-435, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14521564/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14521564&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1525-1470.2003.20514.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14521564">Landers and Schroeder (2003)</a> reported a 3-year-old girl with severe intractable diarrhea of infancy requiring lifelong total parenteral nutrition. Duodenal biopsy at age 2 months showed villous atrophy, but subsequent biopsies were normal. She had several episodes of line sepsis and pancytopenia on 1 hospitalization. Physical exam at age 3 years found facial dysmorphism with prominent forehead and cheeks, broad nasal root, hypertelorism, and mental retardation. Her hair was brittle with trichorrhexis nodosa in nearly all hair shafts. Hepatomegaly was noted, and liver biopsy showed cirrhosis. Laboratory studies showed mild anemia, leukopenia, and thrombocytopenia. At the time of the report, she was awaiting liver transplant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14521564" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Barabino, A. V., Torrente, F., Castellano, E., Erba, D., Calvi, A., Gandullia, P. &lt;strong&gt;&#x27;Syndromic diarrhea&#x27; may have better outcome than previously reported.&lt;/strong&gt; J. Pediat. 144: 553-554, 2004. Note: Erratum: J. Pediat. 144: 838 only, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15069414/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15069414&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.jpeds.2004.01.026&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15069414">Barabino et al. (2004)</a> reported a girl who developed chronic diarrhea at 15 days of age. Total parenteral nutrition was started and then discontinued at 1 year. She had the typical facial features, hair abnormalities, and intestinal findings consistent with what the authors termed 'syndromic diarrhea.' At age 17 years, she showed severe growth delay but normal pubertal development. She had mild mental impairment, intermittent diarrhea, and frequent upper respiratory infections. Intestinal histology had improved. An older sister died during infancy from unexplained diarrhea. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15069414" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Dweikat, I., Sultan, M., Maraqa, N., Hindi, T., Abu-Rmeileh, S., Abu-Libdeh, B. &lt;strong&gt;Tricho-hepato-enteric syndrome: a case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality&lt;/strong&gt; Am. J. Med. Genet. 143A: 581-583, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17236206/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17236206&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31583&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17236206">Dweikat et al. (2007)</a> reported a female infant, born of first-cousin parents, with hemochromatosis, intractable diarrhea, dysmorphic features, and hair abnormality. She was born at term and had a normal neonatal course. Failure to thrive was noted at age 1 month. Watery diarrhea began at age 50 days and continued despite dietary changes and 3 weeks of bowel rest. Physical exam at age 3 months showed decreased physical growth, sparse, thin, curly hair, hypertelorism, broad nose, prominent eyes, and umbilical and bilateral inguinal hernias. Laboratory studies showed abnormally increased liver enzymes and increased serum iron content. Liver biopsy showed edema, fibrosis, and iron deposition. Hypermethioninemia was not present. Psychomotor development was normal until her death at age 10 months from intractable diarrhea. <a href="#3" class="mim-tip-reference" title="Dweikat, I., Sultan, M., Maraqa, N., Hindi, T., Abu-Rmeileh, S., Abu-Libdeh, B. &lt;strong&gt;Tricho-hepato-enteric syndrome: a case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality&lt;/strong&gt; Am. J. Med. Genet. 143A: 581-583, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17236206/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17236206&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31583&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17236206">Dweikat et al. (2007)</a> noted the phenotypic similarities to the patients reported by <a href="#12" class="mim-tip-reference" title="Stankler, L., Lloyd, D., Pollitt, R. J., Gray, E. S., Thom, H., Russell, G. &lt;strong&gt;Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome.&lt;/strong&gt; Arch. Dis. Child. 57: 212-216, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7073301/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7073301&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/adc.57.3.212&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7073301">Stankler et al. (1982)</a> and <a href="#13" class="mim-tip-reference" title="Verloes, A., Lombet, J., Lambert, Y., Hubert, A.-F., Deprez, M., Fridman, V., Gosseye, S., Rigo, J., Sokal, E. &lt;strong&gt;Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies.&lt;/strong&gt; Am. J. Med. Genet. 68: 391-395, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9021008/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9021008&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19970211)68:4&lt;391::aid-ajmg3&gt;3.0.co;2-p&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9021008">Verloes et al. (1997)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17236206+7073301+9021008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Fabre, A., Andre, N., Breton, A., Broue, P., Badens, C., Roquelaure, B. &lt;strong&gt;Intractable diarrhea with &#x27;phenotypic anomalies&#x27; and tricho-hepato-enteric syndrome: two names for the same disorder.&lt;/strong&gt; Am. J. Med. Genet. 143A: 584-588, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17318842/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17318842&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31634&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17318842">Fabre et al. (2007)</a> reported 2 unrelated male infants with THE syndrome. Both developed intractable watery diarrhea requiring total parenteral nutrition at ages 1 and 3 months, respectively. Both also had facial dysmorphism with large forehead, hypertelorism, and broad nasal root, and trichorrhexis nodosa. Other common features included hepatic cirrhosis and mild humoral immunodeficiency. In 1 child, duodenal biopsy showed total villous atrophy at 1 month, and subsequent testing at 20 months showed moderate villous atrophy. <a href="#4" class="mim-tip-reference" title="Fabre, A., Andre, N., Breton, A., Broue, P., Badens, C., Roquelaure, B. &lt;strong&gt;Intractable diarrhea with &#x27;phenotypic anomalies&#x27; and tricho-hepato-enteric syndrome: two names for the same disorder.&lt;/strong&gt; Am. J. Med. Genet. 143A: 584-588, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17318842/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17318842&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31634&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17318842">Fabre et al. (2007)</a> suggested that THE syndrome and the 'syndromic diarrhea' described by <a href="#1" class="mim-tip-reference" title="Barabino, A. V., Torrente, F., Castellano, E., Erba, D., Calvi, A., Gandullia, P. &lt;strong&gt;&#x27;Syndromic diarrhea&#x27; may have better outcome than previously reported.&lt;/strong&gt; J. Pediat. 144: 553-554, 2004. Note: Erratum: J. Pediat. 144: 838 only, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15069414/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15069414&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.jpeds.2004.01.026&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15069414">Barabino et al. (2004)</a> are the same disease entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17318842+15069414" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Hartley, J. L., Zachos, N. C., Dawood, B., Donowitz, M., Forman, J., Pollitt, R. J., Morgan, N. V., Tee, L., Gissen, P., Kahr, W. H. A., Knisely, A. S., Watson, S., Chitayat, D., Booth, I. W., Protheroe, S., Murphy, S., De Vries, E., Kelly, D. A., Maher, E. R. &lt;strong&gt;Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).&lt;/strong&gt; Gastroenterology 138: 2388-2398, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20176027/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20176027&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20176027[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1053/j.gastro.2010.02.010&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20176027">Hartley et al. (2010)</a> studied 12 affected children from 11 families with THES, 8 of which were consanguineous. All children exhibited the characteristic facial features and trichorrhexis nodosa of the hair on microscopy. There was a high incidence of preterm delivery and intrauterine growth retardation. Diarrhea developed between 2 weeks of age and 7 months, and all children required parenteral nutrition in infancy; in 2 patients, parenteral nutrition could be discontinued due to improvement in diarrhea. Histologic examination of serially obtained jejunal biopsy specimens suggested that the villous atrophy can improve with age and the inflammatory infiltrate is not consistent. Serum immunoglobulin levels were low in 11 of the 12 children, requiring supplementation during the neonatal period. Cardiac anomalies were present in 5 children, including aortic insufficiency in 2, peripheral pulmonary stenosis in 1, ventricular septal defect in 1, and tetralogy of Fallot in 1. Developmental delay was present in all 7 children who were old enough to be assessed. Previously unrecognized platelet abnormalities were identified in 6 of the children, with large platelets observed in 5 and thrombocytosis in 4; transmission electron microscopy revealed reduced platelet alpha-granules, unusual stimulated alpha-granule content release, abnormal lipid inclusions, abnormal platelet canalicular system, and reduced number of microtubules. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20176027" 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="#11" class="mim-tip-reference" title="Monies, D. M., Rahbeeni, Z., Abouelhoda, M., Naim, E. A., Al-Younes, B., Meyer, B. F., Al-Mehaidib, A. &lt;strong&gt;Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.&lt;/strong&gt; J. Pediat. Gastroent. Nutr. 60: 352-356, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25714577/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25714577&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/MPG.0000000000000627&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25714577">Monies et al. (2015)</a> reported a 12-year-old Saudi girl (family 2, II-9) with THES and mutation in the TTC37 gene. She had onset of intractable diarrhea at 14 days of life, failure to thrive, and remained dependent on total parenteral nutrition. She had facial dysmorphisms and woolly uncombable hair; microscopic analysis of her hair revealed trichorrhexis nodosa. Small bowel biopsy showed partial villous atrophy, and colonoscopy showed chronic active ileitis and colitis. She developed hyponatremic dehydration with 2 major perineal fistulas, and underwent fistula clipping followed by sigmoid loop colostomy to allow healing of the fistulas. She also exhibited numerous congenital cafe-au-lait spots limited to skin below the waist, distributed over the pelvis and lower extremities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25714577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Kinnear, C., Glanzmann, B., Banda, E., Schlechter, N., Durrheim, G., Neethling, A., Nel, E., Schoeman, M., Johnson, G., van Helden, P. D., Hoal, E. G., Esser, M., Urban, M., Moller, M. &lt;strong&gt;Exome sequencing identifies a novel TTC37 mutation in the first reported case of trichohepatoenteric syndrome (THE-S) in South Africa.&lt;/strong&gt; BMC Med. Genet. 18: 26, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28292286/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;28292286&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=28292286[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1186/s12881-017-0388-5&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="28292286">Kinnear et al. (2017)</a> reported 2 brothers from a consanguineous Somali family who died at 3 months and 5 months of age with THES and mutation in the TTC37 (SKIC3) gene. Both boys had intrauterine growth retardation, neonatal jaundice, and postnatal failure to thrive, and showed wide prominent forehead and patchy hyperpigmentation of the trunk and legs, with the younger brother also showing erythroderma of the palms and soles. The older brother, who had onset of chronic secretory diarrhea in early infancy and had unusual-appearing scalp hair, died at 5 months of age with septicemia. Duodenal biopsy showed findings consistent with THES, including flattening and thickening of villi with preserved crypt architecture. Other features included hypospadias and camptodactyly. The younger sib had an atypical presentation, in which diarrhea was less prominent than the fulminant cytomegalovirus pneumonitis that resulted in his death at age 3 months; hair could not be assessed due to traditional head shaving at birth. He also showed evidence of ongoing liver dysfunction, with elevated liver enzymes and conjugated bilirubin and low albumin. Both sibs had an abnormal immunologic profile, including low natural killer (NK) cell counts and percentages, and low IgG and IgA levels. The authors stated that these were the first reported Somali patients with THES, and noted that THES had not been previously diagnosed in South Africa, where consanguinity was uncommon. The boys' parents were first cousins once removed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28292286" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of THES in the families reported by <a href="#8" class="mim-tip-reference" title="Hartley, J. L., Zachos, N. C., Dawood, B., Donowitz, M., Forman, J., Pollitt, R. J., Morgan, N. V., Tee, L., Gissen, P., Kahr, W. H. A., Knisely, A. S., Watson, S., Chitayat, D., Booth, I. W., Protheroe, S., Murphy, S., De Vries, E., Kelly, D. A., Maher, E. R. &lt;strong&gt;Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).&lt;/strong&gt; Gastroenterology 138: 2388-2398, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20176027/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20176027&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20176027[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1053/j.gastro.2010.02.010&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20176027">Hartley et al. (2010)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20176027" 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="#8" class="mim-tip-reference" title="Hartley, J. L., Zachos, N. C., Dawood, B., Donowitz, M., Forman, J., Pollitt, R. J., Morgan, N. V., Tee, L., Gissen, P., Kahr, W. H. A., Knisely, A. S., Watson, S., Chitayat, D., Booth, I. W., Protheroe, S., Murphy, S., De Vries, E., Kelly, D. A., Maher, E. R. &lt;strong&gt;Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).&lt;/strong&gt; Gastroenterology 138: 2388-2398, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20176027/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20176027&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20176027[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1053/j.gastro.2010.02.010&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20176027">Hartley et al. (2010)</a> performed genomewide linkage analysis in 8 children with trichohepatoenteric syndrome from consanguineous families and identified 3 extended regions of homozygosity shared by all 8 children. Further genotyping in all available family members using microsatellite markers excluded 2 of the regions and confirmed linkage to chromosome 5q14.3-q21.2, defining a 12.9-Mb interval between markers D5S815 and D5S409. Multipoint linkage analysis yielded a maximum lod score of 5.8 (theta = 0) at D5S1462. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20176027" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 12 children from 11 unrelated families with trichohepatoenteric syndrome mapping to chromosome 5q14.3-q21.2, <a href="#8" class="mim-tip-reference" title="Hartley, J. L., Zachos, N. C., Dawood, B., Donowitz, M., Forman, J., Pollitt, R. J., Morgan, N. V., Tee, L., Gissen, P., Kahr, W. H. A., Knisely, A. S., Watson, S., Chitayat, D., Booth, I. W., Protheroe, S., Murphy, S., De Vries, E., Kelly, D. A., Maher, E. R. &lt;strong&gt;Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).&lt;/strong&gt; Gastroenterology 138: 2388-2398, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20176027/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20176027&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20176027[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1053/j.gastro.2010.02.010&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20176027">Hartley et al. (2010)</a> identified homozygosity or compound heterozygosity for 9 different mutations in the candidate gene TTC37 (see, e.g., <a href="/entry/614589#0001">614589.0001</a>-<a href="/entry/614589#0005">614589.0005</a>). All mutations segregated with disease status in the family, and none were detected in at least 350 ethnically matched South Asian and Caucasian control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20176027" 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="Fabre, A., Martinez-Vinson, C., Roquelaure, B., Missirian, C., Andre, N., Breton, A., Lachaux, A., Odul, E., Colomb, V., Lemale, J., Cezard, J.-P., Goulet, O., Sarles, J., Levy, N., Badens, C. &lt;strong&gt;Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.&lt;/strong&gt; Hum. Mutat. 32: 277-281, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21120949/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21120949&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.21420&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21120949">Fabre et al. (2011)</a> analyzed the TTC37 gene in 12 THES patients from 11 families, including the 2 boys originally reported by <a href="#4" class="mim-tip-reference" title="Fabre, A., Andre, N., Breton, A., Broue, P., Badens, C., Roquelaure, B. &lt;strong&gt;Intractable diarrhea with &#x27;phenotypic anomalies&#x27; and tricho-hepato-enteric syndrome: two names for the same disorder.&lt;/strong&gt; Am. J. Med. Genet. 143A: 584-588, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17318842/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17318842&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31634&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17318842">Fabre et al. (2007)</a>, and identified homozygosity or compound heterozygosity for 11 different mutations in 9 of the patients (see, e.g., <a href="/entry/614589#0006">614589.0006</a>-<a href="/entry/614589#0008">614589.0008</a>). The phenotypes of the 3 female patients in whom no mutation in TTC37 was detected were reevaluated and confirmed as being typical THES, suggesting that at least 1 other gene may be implicated in the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21120949+17318842" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 12-year-old Saudi girl (family 2, II-9) with THES and numerous cafe-au-lait spots below the waist, <a href="#11" class="mim-tip-reference" title="Monies, D. M., Rahbeeni, Z., Abouelhoda, M., Naim, E. A., Al-Younes, B., Meyer, B. F., Al-Mehaidib, A. &lt;strong&gt;Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.&lt;/strong&gt; J. Pediat. Gastroent. Nutr. 60: 352-356, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25714577/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25714577&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/MPG.0000000000000627&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25714577">Monies et al. (2015)</a> screened a gastrointestinal disease-associated gene panel and identified homozygosity for a nonsense mutation in the TTC37 gene (Q1368X; <a href="/entry/614589#0009">614589.0009</a>) that segregated with disease in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25714577" 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 2 brothers from a consanguineous Somalian family who died in infancy with THES, <a href="#9" class="mim-tip-reference" title="Kinnear, C., Glanzmann, B., Banda, E., Schlechter, N., Durrheim, G., Neethling, A., Nel, E., Schoeman, M., Johnson, G., van Helden, P. D., Hoal, E. G., Esser, M., Urban, M., Moller, M. &lt;strong&gt;Exome sequencing identifies a novel TTC37 mutation in the first reported case of trichohepatoenteric syndrome (THE-S) in South Africa.&lt;/strong&gt; BMC Med. Genet. 18: 26, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28292286/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;28292286&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=28292286[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1186/s12881-017-0388-5&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="28292286">Kinnear et al. (2017)</a> identified homozygosity for a missense mutation in the TTC37 gene (R1503C; <a href="/entry/614589#0010">614589.0010</a>). The mutation was confirmed by Sanger sequencing, which also showed that their parents and sister were heterozygous for the variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28292286" 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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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Barabino2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Barabino, A. V., Torrente, F., Castellano, E., Erba, D., Calvi, A., Gandullia, P.
<strong>'Syndromic diarrhea' may have better outcome than previously reported.</strong>
J. Pediat. 144: 553-554, 2004. Note: Erratum: J. Pediat. 144: 838 only, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15069414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15069414</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15069414" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.jpeds.2004.01.026" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="Bourgeois2018" class="mim-anchor"></a>
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Bourgeois, P., Esteve, C., Chaix, C., Beroud, C., Levy, N., THES Clinical Consortium, Fabre, A., Badens, C.
<strong>Tricho-hepato-enteric syndrome mutation update: mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.</strong>
Hum. Mutat. 39: 774-789, 2018.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29527791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29527791</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29527791" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.23418" target="_blank">Full Text</a>]
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<a id="Dweikat2007" class="mim-anchor"></a>
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Dweikat, I., Sultan, M., Maraqa, N., Hindi, T., Abu-Rmeileh, S., Abu-Libdeh, B.
<strong>Tricho-hepato-enteric syndrome: a case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality</strong>
Am. J. Med. Genet. 143A: 581-583, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236206</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17236206" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.31583" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
<a id="Fabre2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fabre, A., Andre, N., Breton, A., Broue, P., Badens, C., Roquelaure, B.
<strong>Intractable diarrhea with 'phenotypic anomalies' and tricho-hepato-enteric syndrome: two names for the same disorder.</strong>
Am. J. Med. Genet. 143A: 584-588, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17318842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17318842</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17318842" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.31634" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
<a id="Fabre2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fabre, A., Martinez-Vinson, C., Roquelaure, B., Missirian, C., Andre, N., Breton, A., Lachaux, A., Odul, E., Colomb, V., Lemale, J., Cezard, J.-P., Goulet, O., Sarles, J., Levy, N., Badens, C.
<strong>Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.</strong>
Hum. Mutat. 32: 277-281, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21120949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21120949</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21120949" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.21420" target="_blank">Full Text</a>]
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<a id="Girault1994" class="mim-anchor"></a>
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Girault, D., Goulet, O., Le Deist, F., Brousse, N., Colomb, V., Cesarini, J.-P., de Potter, S., Canioni, D., Griscelli, C., Fischer, A., Ricour, C.
<strong>Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency.</strong>
J. Pediat. 125: 36-42, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8021782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8021782</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8021782" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(94)70118-0" target="_blank">Full Text</a>]
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<a id="Goulet1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Goulet, O. J., Brousse, N., Canioni, D., Walker-Smith, J. A., Schmitz, J., Phillips, A. D.
<strong>Syndrome of intractable diarrhoea with persistent villous atrophy in early childhood: a clinicopathological survey of 47 cases.</strong>
J. Pediat. Gastroent. Nutr. 26: 151-161, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9481629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9481629</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9481629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1097/00005176-199802000-00006" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
<a id="Hartley2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hartley, J. L., Zachos, N. C., Dawood, B., Donowitz, M., Forman, J., Pollitt, R. J., Morgan, N. V., Tee, L., Gissen, P., Kahr, W. H. A., Knisely, A. S., Watson, S., Chitayat, D., Booth, I. W., Protheroe, S., Murphy, S., De Vries, E., Kelly, D. A., Maher, E. R.
<strong>Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).</strong>
Gastroenterology 138: 2388-2398, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20176027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20176027</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20176027[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=20176027" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1053/j.gastro.2010.02.010" target="_blank">Full Text</a>]
</p>
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<li>
<a id="9" class="mim-anchor"></a>
<a id="Kinnear2017" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kinnear, C., Glanzmann, B., Banda, E., Schlechter, N., Durrheim, G., Neethling, A., Nel, E., Schoeman, M., Johnson, G., van Helden, P. D., Hoal, E. G., Esser, M., Urban, M., Moller, M.
<strong>Exome sequencing identifies a novel TTC37 mutation in the first reported case of trichohepatoenteric syndrome (THE-S) in South Africa.</strong>
BMC Med. Genet. 18: 26, 2017.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28292286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28292286</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28292286[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=28292286" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1186/s12881-017-0388-5" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
<a id="Landers2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Landers, M. C., Schroeder, T. L.
<strong>Intractable diarrhea of infancy with facial dysmorphism, trichorrhexis nodosa, and cirrhosis.</strong>
Pediat. Derm. 20: 432-435, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14521564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14521564</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14521564" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1046/j.1525-1470.2003.20514.x" target="_blank">Full Text</a>]
</p>
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<a id="11" class="mim-anchor"></a>
<a id="Monies2015" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Monies, D. M., Rahbeeni, Z., Abouelhoda, M., Naim, E. A., Al-Younes, B., Meyer, B. F., Al-Mehaidib, A.
<strong>Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.</strong>
J. Pediat. Gastroent. Nutr. 60: 352-356, 2015.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25714577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25714577</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25714577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1097/MPG.0000000000000627" target="_blank">Full Text</a>]
</p>
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<a id="12" class="mim-anchor"></a>
<a id="Stankler1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Stankler, L., Lloyd, D., Pollitt, R. J., Gray, E. S., Thom, H., Russell, G.
<strong>Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome.</strong>
Arch. Dis. Child. 57: 212-216, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7073301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7073301</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7073301" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/adc.57.3.212" target="_blank">Full Text</a>]
</p>
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<a id="13" class="mim-anchor"></a>
<a id="Verloes1997" class="mim-anchor"></a>
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<p class="mim-text-font">
Verloes, A., Lombet, J., Lambert, Y., Hubert, A.-F., Deprez, M., Fridman, V., Gosseye, S., Rigo, J., Sokal, E.
<strong>Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies.</strong>
Am. J. Med. Genet. 68: 391-395, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9021008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9021008</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9021008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1096-8628(19970211)68:4&lt;391::aid-ajmg3&gt;3.0.co;2-p" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 10/10/2022
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Marla J. F. O'Neill - updated : 04/27/2012<br>Marla J. F. O'Neill - updated : 1/25/2010<br>Marla J. F. O'Neill - updated : 1/12/2010<br>Deborah L. Stone - updated : 8/26/2002
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Victor A. McKusick : 6/3/1986
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carol : 11/17/2022
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alopez : 10/10/2022<br>carol : 11/21/2017<br>alopez : 09/12/2016<br>carol : 04/27/2012<br>wwang : 2/19/2010<br>carol : 1/25/2010<br>carol : 1/12/2010<br>wwang : 4/16/2007<br>ckniffin : 4/10/2007<br>terry : 4/19/2005<br>carol : 8/26/2002<br>mimadm : 2/19/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988<br>reenie : 6/3/1986
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<strong>#</strong> 222470
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TRICHOHEPATOENTERIC SYNDROME 1; THES1
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<em>Alternative titles; symbols</em>
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THE SYNDROME<br />
DIARRHEA, SYNDROMIC<br />
DIARRHEA, FATAL INFANTILE, WITH TRICHORRHEXIS NODOSA
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<strong>SNOMEDCT:</strong> 703406006; &nbsp;
<strong>ORPHA:</strong> 84064; &nbsp;
<strong>DO:</strong> 0111415; &nbsp;
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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
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Gene/Locus <br /> MIM number
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5q15
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Trichohepatoenteric syndrome 1
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222470
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Autosomal recessive
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3
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SKIC3
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614589
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that trichohepatoenteric syndrome-1 (THES1) is caused by homozygous or compound heterozygous mutation in the TTC37 gene (SKIC3; 614589) on chromosome 5q15.</p>
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<strong>Description</strong>
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<p>Although the spectrum of phenotypic expression in trichohepatoenteric syndrome (THES) is broad, the characteristic features include intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhea in infancy requiring total parenteral nutrition, and immunodepression. Hepatic involvement contributes to the poor prognosis of affected patients (summary by Fabre et al., 2007). </p><p><strong><em>Genetic Heterogeneity of Trichohepatoenteric Syndrome</em></strong></p><p>
Trichohepatoenteric syndrome-2 (THES2; 614602) is caused by mutation in the SKIV2L gene (SKIC2; 600478) on chromosome 6p21.</p><p><strong><em>Reviews</em></strong></p><p>
Bourgeois et al. (2018) analyzed a cohort of 96 patients with THES from 85 different families, drawing from published reports (37 patients) and their own recruitment (59 patients). Approximately two-thirds of the patients carried biallelic TTC37 mutations, and one-third had SKIVL2 mutations; in 8 (8.3%) of the patients, only 1 mutation could be identified. Intractable diarrhea was present in 100% of patients regardless of genotype, with hair abnormalities (woolly, brittle, easily removable) present in 90%. Facial dysmorphisms were observed in 84% of clinically described patients, comprising primarily large forehead, broad nasal root, and hypertelorism. Intrauterine growth retardation was frequent, seen in 70% of TTC37-mutated patients and 86% of SKIV2L-mutated patients; however, there was no significant difference in postnatal growth between the 2 groups. Liver disease was common, and more frequent in patients with mutation in SKIV2L (88%) than in TTC37 (51%); findings ranged from elevated liver enzymes and hepatomegaly to fibrosis and cirrhosis. Immunodeficiency was reported in about half of clinically explored patients, presenting as low immunoglobulin count or lack of antibody response to immunization. In addition, approximately 40% to 50% of patients exhibited dermatologic abnormalities, mostly cafe-au-lait spots located on the lower limbs. Overall, the authors noted that THES patients with mutation in either gene exhibit remarkably similar clinical signs, involving primarily the gastrointestinal tract, hair, and face, and are indistinguishable in clinical practice. However, a few differences emerged from analysis of the cohort, with SKIV2L-associated THES showing an earlier onset and/or greater severity, with more severe liver disease and significantly smaller height and weight at birth. </p>
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<strong>Clinical Features</strong>
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<p>Stankler et al. (1982) reported a seemingly 'new,' presumably autosomal recessive disorder in a sister and brother who died at 33 and 87 days of age, respectively, with severe unexplained diarrhea. Both were of low birth weight for dates and had large, low-set, simple ears, flat nasal bridge, and large mouth. Both had woolly, easily removed black hair showing an abnormality the authors dubbed 'trichorrhexis blastysis.' By scanning microscopy, the hairs showed projections at multiple sites arising from the convex surface of a kinked hair and suggesting buds (Gr. blastosis = bud). The hair had a low content of cystine and an abnormal content of several other amino acids. Both parents had normal hair microscopically and chemically. In both sibs, the diarrhea began in the third week of life and was preceded by excoriated buttocks. Both had galactosuria without galactosemia. At autopsy both had hepatic fibrosis and hemosiderosis and islet cell hyperplasia. Menkes disease (309400) and argininosuccinic aciduria (207900), which have somewhat similar findings in the hair, were excluded by chemical tests. </p><p>Girault et al. (1994) reported 8 children with severe secretory diarrhea beginning in the first 6 months of life (less than 1 month in 6 cases). All were small for gestational age and had facial dysmorphism and woolly, easily removable hair with trichorrhexis nodosa. Two children were from consanguineous marriages. Diarrhea was refractive to therapy, including bowel rest. All patients had jejunal biopsies that showed total or subtotal villous atrophy, defective antigen-specific skin tests, and defective antibody responses despite normal serum immunoglobulin levels. Two patients had hepatic cirrhosis, and 3 children had mental retardation. At the time of the report, 5 patients had died between the ages of 2 and 5 years, 2 were fed enterally, and 1 continued to receive total parenteral nutrition. Barabino et al. (2004) reported follow-up of the patient dependent on parenteral nutrition reported by Girault et al. (1994). At age 6 years, she achieved intestinal autonomy with discontinuation of the parenteral nutrition. At age 14 years, she had mild psychomotor and pubertal delay. She had chronic malabsorptive diarrhea, hypoalbuminemia, iron-deficiency anemia, osteoporosis, and impaired intestinal permeability. Immunologic defect was still present, but no other infections were recorded. </p><p>Verloes et al. (1997) used the term 'tricho-hepato-enteric syndrome' to describe the disorder in a brother and sister who were noted prenatally to have intrauterine growth retardation, hydramnios, and placental hyperplasia. Both had intractable diarrhea with normal histologic and enzymologic studies. Facial anomalies included hypertelorism, upturned noses, small mouths, and low-set ears. Hair texture and pattern were abnormal. Neurologically, they appeared grossly normal. The sister was noted to have cholestatic jaundice and hepatomegaly at 2 months of age, whereas the brother was noted to have hepatic dysfunction at birth with a high alpha-fetoprotein level. He also had mild and delayed hypermethioninemia. Both died at about 6 months of age. Pathologic examination of both children showed a similar pattern of multivisceral iron deposition compatible with a diagnosis of neonatal hemochromatosis, although the clinical picture of an asymptomatic neonatal period was unusual. </p><p>Goulet et al. (1998) studied the clinical and histopathologic features of 47 infants with intractable diarrhea and villous atrophy of varying degrees, dividing them into 2 groups, with or without lamina propria mononuclear cell infiltration. Of the 18 patients in the latter group, 8 had phenotypic abnormalities including facial dysmorphism and abnormal hair; 6 of the 8 patients had previously been reported by Girault et al. (1994). </p><p>Landers and Schroeder (2003) reported a 3-year-old girl with severe intractable diarrhea of infancy requiring lifelong total parenteral nutrition. Duodenal biopsy at age 2 months showed villous atrophy, but subsequent biopsies were normal. She had several episodes of line sepsis and pancytopenia on 1 hospitalization. Physical exam at age 3 years found facial dysmorphism with prominent forehead and cheeks, broad nasal root, hypertelorism, and mental retardation. Her hair was brittle with trichorrhexis nodosa in nearly all hair shafts. Hepatomegaly was noted, and liver biopsy showed cirrhosis. Laboratory studies showed mild anemia, leukopenia, and thrombocytopenia. At the time of the report, she was awaiting liver transplant. </p><p>Barabino et al. (2004) reported a girl who developed chronic diarrhea at 15 days of age. Total parenteral nutrition was started and then discontinued at 1 year. She had the typical facial features, hair abnormalities, and intestinal findings consistent with what the authors termed 'syndromic diarrhea.' At age 17 years, she showed severe growth delay but normal pubertal development. She had mild mental impairment, intermittent diarrhea, and frequent upper respiratory infections. Intestinal histology had improved. An older sister died during infancy from unexplained diarrhea. </p><p>Dweikat et al. (2007) reported a female infant, born of first-cousin parents, with hemochromatosis, intractable diarrhea, dysmorphic features, and hair abnormality. She was born at term and had a normal neonatal course. Failure to thrive was noted at age 1 month. Watery diarrhea began at age 50 days and continued despite dietary changes and 3 weeks of bowel rest. Physical exam at age 3 months showed decreased physical growth, sparse, thin, curly hair, hypertelorism, broad nose, prominent eyes, and umbilical and bilateral inguinal hernias. Laboratory studies showed abnormally increased liver enzymes and increased serum iron content. Liver biopsy showed edema, fibrosis, and iron deposition. Hypermethioninemia was not present. Psychomotor development was normal until her death at age 10 months from intractable diarrhea. Dweikat et al. (2007) noted the phenotypic similarities to the patients reported by Stankler et al. (1982) and Verloes et al. (1997). </p><p>Fabre et al. (2007) reported 2 unrelated male infants with THE syndrome. Both developed intractable watery diarrhea requiring total parenteral nutrition at ages 1 and 3 months, respectively. Both also had facial dysmorphism with large forehead, hypertelorism, and broad nasal root, and trichorrhexis nodosa. Other common features included hepatic cirrhosis and mild humoral immunodeficiency. In 1 child, duodenal biopsy showed total villous atrophy at 1 month, and subsequent testing at 20 months showed moderate villous atrophy. Fabre et al. (2007) suggested that THE syndrome and the 'syndromic diarrhea' described by Barabino et al. (2004) are the same disease entity. </p><p>Hartley et al. (2010) studied 12 affected children from 11 families with THES, 8 of which were consanguineous. All children exhibited the characteristic facial features and trichorrhexis nodosa of the hair on microscopy. There was a high incidence of preterm delivery and intrauterine growth retardation. Diarrhea developed between 2 weeks of age and 7 months, and all children required parenteral nutrition in infancy; in 2 patients, parenteral nutrition could be discontinued due to improvement in diarrhea. Histologic examination of serially obtained jejunal biopsy specimens suggested that the villous atrophy can improve with age and the inflammatory infiltrate is not consistent. Serum immunoglobulin levels were low in 11 of the 12 children, requiring supplementation during the neonatal period. Cardiac anomalies were present in 5 children, including aortic insufficiency in 2, peripheral pulmonary stenosis in 1, ventricular septal defect in 1, and tetralogy of Fallot in 1. Developmental delay was present in all 7 children who were old enough to be assessed. Previously unrecognized platelet abnormalities were identified in 6 of the children, with large platelets observed in 5 and thrombocytosis in 4; transmission electron microscopy revealed reduced platelet alpha-granules, unusual stimulated alpha-granule content release, abnormal lipid inclusions, abnormal platelet canalicular system, and reduced number of microtubules. </p><p>Monies et al. (2015) reported a 12-year-old Saudi girl (family 2, II-9) with THES and mutation in the TTC37 gene. She had onset of intractable diarrhea at 14 days of life, failure to thrive, and remained dependent on total parenteral nutrition. She had facial dysmorphisms and woolly uncombable hair; microscopic analysis of her hair revealed trichorrhexis nodosa. Small bowel biopsy showed partial villous atrophy, and colonoscopy showed chronic active ileitis and colitis. She developed hyponatremic dehydration with 2 major perineal fistulas, and underwent fistula clipping followed by sigmoid loop colostomy to allow healing of the fistulas. She also exhibited numerous congenital cafe-au-lait spots limited to skin below the waist, distributed over the pelvis and lower extremities. </p><p>Kinnear et al. (2017) reported 2 brothers from a consanguineous Somali family who died at 3 months and 5 months of age with THES and mutation in the TTC37 (SKIC3) gene. Both boys had intrauterine growth retardation, neonatal jaundice, and postnatal failure to thrive, and showed wide prominent forehead and patchy hyperpigmentation of the trunk and legs, with the younger brother also showing erythroderma of the palms and soles. The older brother, who had onset of chronic secretory diarrhea in early infancy and had unusual-appearing scalp hair, died at 5 months of age with septicemia. Duodenal biopsy showed findings consistent with THES, including flattening and thickening of villi with preserved crypt architecture. Other features included hypospadias and camptodactyly. The younger sib had an atypical presentation, in which diarrhea was less prominent than the fulminant cytomegalovirus pneumonitis that resulted in his death at age 3 months; hair could not be assessed due to traditional head shaving at birth. He also showed evidence of ongoing liver dysfunction, with elevated liver enzymes and conjugated bilirubin and low albumin. Both sibs had an abnormal immunologic profile, including low natural killer (NK) cell counts and percentages, and low IgG and IgA levels. The authors stated that these were the first reported Somali patients with THES, and noted that THES had not been previously diagnosed in South Africa, where consanguinity was uncommon. The boys' parents were first cousins once removed. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of THES in the families reported by Hartley et al. (2010) was consistent with autosomal recessive inheritance. </p>
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<strong>Mapping</strong>
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<p>Hartley et al. (2010) performed genomewide linkage analysis in 8 children with trichohepatoenteric syndrome from consanguineous families and identified 3 extended regions of homozygosity shared by all 8 children. Further genotyping in all available family members using microsatellite markers excluded 2 of the regions and confirmed linkage to chromosome 5q14.3-q21.2, defining a 12.9-Mb interval between markers D5S815 and D5S409. Multipoint linkage analysis yielded a maximum lod score of 5.8 (theta = 0) at D5S1462. </p>
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<strong>Molecular Genetics</strong>
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<p>In 12 children from 11 unrelated families with trichohepatoenteric syndrome mapping to chromosome 5q14.3-q21.2, Hartley et al. (2010) identified homozygosity or compound heterozygosity for 9 different mutations in the candidate gene TTC37 (see, e.g., 614589.0001-614589.0005). All mutations segregated with disease status in the family, and none were detected in at least 350 ethnically matched South Asian and Caucasian control chromosomes. </p><p>Fabre et al. (2011) analyzed the TTC37 gene in 12 THES patients from 11 families, including the 2 boys originally reported by Fabre et al. (2007), and identified homozygosity or compound heterozygosity for 11 different mutations in 9 of the patients (see, e.g., 614589.0006-614589.0008). The phenotypes of the 3 female patients in whom no mutation in TTC37 was detected were reevaluated and confirmed as being typical THES, suggesting that at least 1 other gene may be implicated in the disease. </p><p>In a 12-year-old Saudi girl (family 2, II-9) with THES and numerous cafe-au-lait spots below the waist, Monies et al. (2015) screened a gastrointestinal disease-associated gene panel and identified homozygosity for a nonsense mutation in the TTC37 gene (Q1368X; 614589.0009) that segregated with disease in the family. </p><p>In 2 brothers from a consanguineous Somalian family who died in infancy with THES, Kinnear et al. (2017) identified homozygosity for a missense mutation in the TTC37 gene (R1503C; 614589.0010). The mutation was confirmed by Sanger sequencing, which also showed that their parents and sister were heterozygous for the variant. </p>
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<strong>REFERENCES</strong>
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<ol>
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<p class="mim-text-font">
Barabino, A. V., Torrente, F., Castellano, E., Erba, D., Calvi, A., Gandullia, P.
<strong>&#x27;Syndromic diarrhea&#x27; may have better outcome than previously reported.</strong>
J. Pediat. 144: 553-554, 2004. Note: Erratum: J. Pediat. 144: 838 only, 2004.
[PubMed: 15069414]
[Full Text: https://doi.org/10.1016/j.jpeds.2004.01.026]
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<li>
<p class="mim-text-font">
Bourgeois, P., Esteve, C., Chaix, C., Beroud, C., Levy, N., THES Clinical Consortium, Fabre, A., Badens, C.
<strong>Tricho-hepato-enteric syndrome mutation update: mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.</strong>
Hum. Mutat. 39: 774-789, 2018.
[PubMed: 29527791]
[Full Text: https://doi.org/10.1002/humu.23418]
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Dweikat, I., Sultan, M., Maraqa, N., Hindi, T., Abu-Rmeileh, S., Abu-Libdeh, B.
<strong>Tricho-hepato-enteric syndrome: a case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality</strong>
Am. J. Med. Genet. 143A: 581-583, 2007.
[PubMed: 17236206]
[Full Text: https://doi.org/10.1002/ajmg.a.31583]
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<p class="mim-text-font">
Fabre, A., Andre, N., Breton, A., Broue, P., Badens, C., Roquelaure, B.
<strong>Intractable diarrhea with &#x27;phenotypic anomalies&#x27; and tricho-hepato-enteric syndrome: two names for the same disorder.</strong>
Am. J. Med. Genet. 143A: 584-588, 2007.
[PubMed: 17318842]
[Full Text: https://doi.org/10.1002/ajmg.a.31634]
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<li>
<p class="mim-text-font">
Fabre, A., Martinez-Vinson, C., Roquelaure, B., Missirian, C., Andre, N., Breton, A., Lachaux, A., Odul, E., Colomb, V., Lemale, J., Cezard, J.-P., Goulet, O., Sarles, J., Levy, N., Badens, C.
<strong>Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.</strong>
Hum. Mutat. 32: 277-281, 2011.
[PubMed: 21120949]
[Full Text: https://doi.org/10.1002/humu.21420]
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Girault, D., Goulet, O., Le Deist, F., Brousse, N., Colomb, V., Cesarini, J.-P., de Potter, S., Canioni, D., Griscelli, C., Fischer, A., Ricour, C.
<strong>Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency.</strong>
J. Pediat. 125: 36-42, 1994.
[PubMed: 8021782]
[Full Text: https://doi.org/10.1016/s0022-3476(94)70118-0]
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Goulet, O. J., Brousse, N., Canioni, D., Walker-Smith, J. A., Schmitz, J., Phillips, A. D.
<strong>Syndrome of intractable diarrhoea with persistent villous atrophy in early childhood: a clinicopathological survey of 47 cases.</strong>
J. Pediat. Gastroent. Nutr. 26: 151-161, 1998.
[PubMed: 9481629]
[Full Text: https://doi.org/10.1097/00005176-199802000-00006]
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<li>
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Hartley, J. L., Zachos, N. C., Dawood, B., Donowitz, M., Forman, J., Pollitt, R. J., Morgan, N. V., Tee, L., Gissen, P., Kahr, W. H. A., Knisely, A. S., Watson, S., Chitayat, D., Booth, I. W., Protheroe, S., Murphy, S., De Vries, E., Kelly, D. A., Maher, E. R.
<strong>Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).</strong>
Gastroenterology 138: 2388-2398, 2010.
[PubMed: 20176027]
[Full Text: https://doi.org/10.1053/j.gastro.2010.02.010]
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Kinnear, C., Glanzmann, B., Banda, E., Schlechter, N., Durrheim, G., Neethling, A., Nel, E., Schoeman, M., Johnson, G., van Helden, P. D., Hoal, E. G., Esser, M., Urban, M., Moller, M.
<strong>Exome sequencing identifies a novel TTC37 mutation in the first reported case of trichohepatoenteric syndrome (THE-S) in South Africa.</strong>
BMC Med. Genet. 18: 26, 2017.
[PubMed: 28292286]
[Full Text: https://doi.org/10.1186/s12881-017-0388-5]
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<p class="mim-text-font">
Landers, M. C., Schroeder, T. L.
<strong>Intractable diarrhea of infancy with facial dysmorphism, trichorrhexis nodosa, and cirrhosis.</strong>
Pediat. Derm. 20: 432-435, 2003.
[PubMed: 14521564]
[Full Text: https://doi.org/10.1046/j.1525-1470.2003.20514.x]
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<li>
<p class="mim-text-font">
Monies, D. M., Rahbeeni, Z., Abouelhoda, M., Naim, E. A., Al-Younes, B., Meyer, B. F., Al-Mehaidib, A.
<strong>Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.</strong>
J. Pediat. Gastroent. Nutr. 60: 352-356, 2015.
[PubMed: 25714577]
[Full Text: https://doi.org/10.1097/MPG.0000000000000627]
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<li>
<p class="mim-text-font">
Stankler, L., Lloyd, D., Pollitt, R. J., Gray, E. S., Thom, H., Russell, G.
<strong>Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome.</strong>
Arch. Dis. Child. 57: 212-216, 1982.
[PubMed: 7073301]
[Full Text: https://doi.org/10.1136/adc.57.3.212]
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<p class="mim-text-font">
Verloes, A., Lombet, J., Lambert, Y., Hubert, A.-F., Deprez, M., Fridman, V., Gosseye, S., Rigo, J., Sokal, E.
<strong>Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies.</strong>
Am. J. Med. Genet. 68: 391-395, 1997.
[PubMed: 9021008]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19970211)68:4&lt;391::aid-ajmg3&gt;3.0.co;2-p]
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