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- #208050 - ARTERIAL TORTUOSITY SYNDROME; ATORS
- OMIM
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<span class="h4">#208050</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/208050"><strong>Clinical Synopsis</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<div><a href="https://clinicaltrials.gov/search?cond=ARTERIAL TORTUOSITY 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 class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0050645" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/208050" 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>
</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> 458432002<br />
<strong>ICD10CM:</strong> Q87.82<br />
<strong>ORPHA:</strong> 3342<br />
<strong>DO:</strong> 0050645<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>
208050
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
ARTERIAL TORTUOSITY SYNDROME; ATORS
</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">
ATS<br />
ARTERIAL TORTUOSITY
</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/20/363?start=-3&limit=10&highlight=363">
20q13.12
</a>
</span>
</td>
<td>
<span class="mim-font">
Arterial tortuosity syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/208050"> 208050 </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">
SLC2A10
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606145"> 606145 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/208050" 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">
<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/208050" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/208050" 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> 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">
- Long face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836047&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836047</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000276</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000276</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=729bf273c6a346c2f07ab0965824ffb2" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Face,Long-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=729bf273c6a346c2f07ab0965824ffb2&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 /> -
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 /> -
Micrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Micrognathia-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882&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> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- 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 /> -
Blepharophimosis <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.46" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.46</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005744&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005744</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000581</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000581</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0f0375071b81e81be36302aa011b44dc" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Blepharophimosis-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0f0375071b81e81be36302aa011b44dc&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 /> -
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 /> -
Keratoconus (less common) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65636009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65636009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H18.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H18.60</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H18.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H18.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/371.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">371.6</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/371.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">371.60</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022578&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022578</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000563" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000563</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000563" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000563</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">
- Beaked nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000444" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000444</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000444" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000444</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">
- High-arched palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Ventricular hypertrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/266249003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">266249003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0340279&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0340279</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001714" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001714</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001714" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001714</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Vascular </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Arterial tortuosity (large and medium-sized arteries including aorta) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749781&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749781</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/458432002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">458432002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q87.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q87.82</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005116" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005116</a>]</span><br /> -
Elongated arteries (large and medium-sized arteries including aorta) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749782&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749782</a>]</span><br /> -
Arterial aneurysms <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/233981004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">233981004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0340613&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0340613</a>]</span><br /> -
Aortic stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60573004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60573004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003507&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003507</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001650</a>]</span><br /> -
Pulmonary artery stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95441000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95441000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/449125001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">449125001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q25.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q25.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0238397&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0238397</a>, <a href="https://bioportal.bioontology.org/search?q=C0265911&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265911</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004415" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004415</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004415" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004415</a>]</span><br /> -
Arterial vessels show fragmentation of the internal elastic membrane <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749783&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749783</a>]</span><br /> -
Arterial vessels show disruption of the elastic fibers of the tunica media <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749784</a>]</span><br /> -
Increased risk of thrombosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749785&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749785</a>]</span><br /> -
Hypertension <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38341003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38341003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/401-405.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">401-405.99</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/997.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">997.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CHEST </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Features </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pectus excavatum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/391987005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">391987005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/391982004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">391982004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016842&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016842</a>, <a href="https://bioportal.bioontology.org/search?q=C2051831&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2051831</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000767" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000767</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000767" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000767</a>]</span><br /> -
Pectus carinatum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205101001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205101001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38774000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38774000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.82</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2939416&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2939416</a>, <a href="https://bioportal.bioontology.org/search?q=C0158731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000768" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000768</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000768" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000768</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Diaphragm </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Diaphragmatic hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17190001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17190001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39839004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39839004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q79.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q79.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K44.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K44.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K44" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K44</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/553.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">553.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235833&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235833</a>, <a href="https://bioportal.bioontology.org/search?q=C0494752&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0494752</a>, <a href="https://bioportal.bioontology.org/search?q=C0019284&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019284</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000776" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000776</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000776" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000776</a>]</span><br /> -
Hiatal hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84089009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84089009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3489393&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3489393</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002036" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002036</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002036" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002036</a>]</span><br /> -
Sliding hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/125263002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">125263002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0456274&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0456274</a>]</span><br /> -
Gastric hernia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277914&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277914</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Features </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Inguinal hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396232000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396232000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K40.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40.90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/550" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">550</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019294&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019294</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span><br /> -
Umbilical hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396347007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396347007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K42.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K42.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/553.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">553.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019322&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019322</a>, <a href="https://bioportal.bioontology.org/search?q=C0041636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001537</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001537</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">
- Diverticulitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/307496006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">307496006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18126004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18126004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0012813&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0012813</a>]</span><br /> -
Hiatal hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84089009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84089009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3489393&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3489393</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002036" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002036</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002036" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002036</a>]</span><br /> -
Bowel necrosis due to thrombosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749777&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749777</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K55.06" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K55.06</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Joint laxity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298203008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298203008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/788453008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">788453008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862377</a>, <a href="https://bioportal.bioontology.org/search?q=C0086437&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086437</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span><br /> -
Joint contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7890003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7890003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/718.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.4</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/718.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009918&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009918</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034392" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034392</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Arachnodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62250003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62250003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001166" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001166</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001519</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001166" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001166</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Arachnodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62250003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62250003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001166" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001166</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001519</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001166" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001166</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">
- Hyperextensibility of the skin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241074&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241074</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000974" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000974</a>]</span><br /> -
Soft, doughy skin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849043&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849043</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001027</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001027</a>]</span><br /> -
No increased bruisability <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749780&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749780</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">
- Ischemic stroke <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422504002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422504002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0948008&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0948008</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002140" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002140</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002140" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002140</a>]</span><br /> -
Mental retardation (some) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
Hypotonia (less common) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br />
</span>
</div>
</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 at birth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836142&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836142</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003577</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003577</a>]</span><br /> -
Increased risk of early death<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 solute carrier family 2 (facilitated glucose transporter), member 10 gene (SLC2A10, <a href="/entry/606145#0001">606145.0001</a>)<br />
</span>
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<p>A number sign (#) is used with this entry because of evidence that arterial tortuosity syndrome (ATORS) is caused by homozygous or compound heterozygous mutation in the gene encoding glucose transporter GLUT10 (SLC2A10; <a href="/entry/606145">606145</a>) on chromosome 20q13.</p>
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<p>Arterial tortuosity syndrome (ATORS) is a rare connective tissue disorder characterized by generalized tortuosity, elongation, stenosis, and aneurysms of the major arteries. Skin and joint abnormalities, including hyperextensibility or hyperlaxity of the skin, joint laxity or contractures, and inguinal hernias, may also be observed. Other abnormalities include micrognathia, elongated face, high palate, beaked nose, sliding hernia, and ventricular hypertrophy (summary by <a href="#7" class="mim-tip-reference" title="Coucke, P. J., Willaert, A., Wessels, M. W., Callewaert, B., Zoppi, N., De Backer, J., Fox, J. E., Mancini, G. M. S., Kambouris, M., Gardella, R., Facchetti, F., Willems, P. J., Forsyth, R., Dietz, H. C., Barlati, S., Colombi, M., Loeys, B., De Paepe, A. &lt;strong&gt;Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.&lt;/strong&gt; Nature Genet. 38: 452-457, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16550171/&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;16550171&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1764&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="16550171">Coucke et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16550171" 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>From Ankara, Turkey, <a href="#9" class="mim-tip-reference" title="Ertugrul, A. &lt;strong&gt;Diffuse tortuosity and lengthening of the arteries.&lt;/strong&gt; Circulation 36: 400-407, 1967.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6033167/&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;6033167&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/01.cir.36.3.400&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="6033167">Ertugrul (1967)</a> described a 10-year-old girl with generalized tortuosity and elongation of all major arteries including the aorta. Telangiectases of the cheeks, high palate, aortic regurgitation and histologic fragmentation of the internal elastic membrane of arteries were noted. Three brothers were well. The parents were also healthy. No comment on consanguinity was made. The same condition may have been present in the boy reported by <a href="#2" class="mim-tip-reference" title="Beuren, A. J., Hort, W., Kalbfleisch, H., Muller, H., Stoermer, J. &lt;strong&gt;Dysplasia of the systemic and pulmonary arterial system with tortuosity and lengthening of the arteries: new entity, diagnosed during life, and leading to coronary death in early childhood.&lt;/strong&gt; Circulation 39: 109-115, 1969.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5762119/&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;5762119&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/01.cir.39.1.109&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="5762119">Beuren et al. (1969)</a>. Multiple pulmonary artery stenoses were present. The child reported by <a href="#13" class="mim-tip-reference" title="Lees, M. H., Menashe, V. D., Sunderland, C. O., Morgan, C. L., Dawson, P. J. &lt;strong&gt;Ehlers-Danlos syndrome associated with multiple pulmonary artery stenoses and tortuous systemic arteries.&lt;/strong&gt; J. Pediat. 75: 1031-1036, 1969.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5352829/&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;5352829&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(69)80342-2&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="5352829">Lees et al. (1969)</a> had tortuous systemic arteries and multiple pulmonary artery stenoses, but the skin was considered excessively stretchable, consistent with the Ehlers-Danlos syndrome (EDS; see <a href="/entry/130000">130000</a>). The sibs reported by <a href="#15" class="mim-tip-reference" title="Welch, J. P., Aterman, K., Day, E., Roy, D. L. &lt;strong&gt;Familial aggregation of a &#x27;new&#x27; connective tissue disorder, a nosologic problem.&lt;/strong&gt; Birth Defects Orig. Art. Ser. VII(8): 204-213, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5173261/&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;5173261&lt;/a&gt;]" pmid="5173261">Welch et al. (1971)</a> had features suggesting cutis laxa (<a href="/entry/219100">219100</a>) with arterial tortuosity of severe degree. The parents were consanguineous. The father and many of his relatives had joint laxity interpreted as the benign hypermobile form of EDS (<a href="/entry/130020">130020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5352829+5762119+6033167+5173261" 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="Franceschini, P., Guala, A., Licata, D., Di Cara, G., Franceschini, D. &lt;strong&gt;Arterial tortuosity syndrome.&lt;/strong&gt; Am. J. Med. Genet. 91: 141-143, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10748415/&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;10748415&lt;/a&gt;]" pmid="10748415">Franceschini et al. (2000)</a> described a male patient with arterial tortuosity syndrome, including generalized tortuosity and elongation of all major arteries, soft skin, joint laxity, severe keratoconus, and diffuse tortuosity of the carotids and intracranial arteries. Cytochemical studies excluded EDS types IV (<a href="/entry/130050">130050</a>) and VII (<a href="/entry/225410">225410</a>). The authors suggested that the patient's brother and sister, who died early of unknown causes, probably had the same condition, consistent with an autosomal recessive etiology. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10748415" 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>The clinical picture in the Moroccan patients from 2 families studied by <a href="#6" class="mim-tip-reference" title="Coucke, P. J., Wessels, M. W., Van Acker, P., Gardella, R., Barlati, S., Willems, P. J., Colombi, M., De Paepe, A. &lt;strong&gt;Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13.&lt;/strong&gt; J. Med. Genet. 40: 747-751, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14569121/&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;14569121&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.40.10.747&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="14569121">Coucke et al. (2003)</a> consisted of tortuosity of the aorta and pulmonary, subclavian, and renal arteries, as shown by echocardiography, angiography, and/or CT scan. Additional clinical features present in some of these patients were hyperlax skin and joints and/or dilation, aneurysms, and stenosis of the pulmonary arteries and ascending aorta. A third family, originating from southern Sicily, had 4 affected members who showed tortuosity of the major arteries, and 2 members also showed severe pulmonary artery stenosis. Some patients had gastric and inguinal hernias, intestine elongation, and keratoconus. Soft nasal cartilage and micrognathia were noted in some. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14569121" 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="#12" class="mim-tip-reference" title="Gardella, R., Zoppi, N., Assanelli, D., Muiesan, M. L., Barlati, S., Colombi, M. &lt;strong&gt;Exclusion of candidate genes in a family with arterial tortuosity syndrome.&lt;/strong&gt; Am. J. Med. Genet. 126A: 221-228, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15054833/&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;15054833&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.20589&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="15054833">Gardella et al. (2004)</a> reported an Italian pedigree with 3 interrelated sibships in which 5 patients showed signs of ATS. In particular, 4 adult patients presented arterial tortuosity and elongation of the main arteries. Two of these patients, with the most severe degree of arterial tortuosity, also showed severe peripheral stenosis of the main pulmonary artery. The fifth young patient showed a severe pulmonary valve stenosis in the absence of arterial tortuosity. All patients showed signs of EDS: soft skin with abundant subcutaneous tissue and joint laxity, hernias, and disorganization of the extracellular matrix of fibronectin and of actin microfilaments in cultured skin fibroblasts. Linkage analysis excluded genes known to be involved in various forms of Ehlers-Danlos syndrome and other connective tissue disorders, thus indicating that ATS is a distinct clinical and molecular entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15054833" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Wessels, M. W., Catsman-Berrevoets, C. E., Mancini, G. M. S., Breuning, M. H., Hoogeboom, J. J. M., Stroink, H., Frohn-Mulder, I., Coucke, P. J., De Paepe, A., Niermeijer, M. F., Willems, P. J. &lt;strong&gt;Three new families with arterial tortuosity syndrome.&lt;/strong&gt; Am. J. Med. Genet. 131A: 134-143, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15529317/&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;15529317&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30272&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="15529317">Wessels et al. (2004)</a> described 9 additional ATS patients from 3 consanguineous Moroccan families and reviewed 35 patients with this uncommon disorder. The most specific clinical findings were cardiovascular anomalies, including tortuosity, lengthening, aneurysm, and stenosis of major arteries. Ventricular hypertrophy was frequently present. Other anomalies were skin hyperextensibility and cutis laxa, laxity or contractures of the joints, and inguinal hernias. Histology showed disruption of elastic fibers in the media of large vessels. All these features suggested that ATS is a connective tissue disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15529317" 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="Coucke, P. J., Willaert, A., Wessels, M. W., Callewaert, B., Zoppi, N., De Backer, J., Fox, J. E., Mancini, G. M. S., Kambouris, M., Gardella, R., Facchetti, F., Willems, P. J., Forsyth, R., Dietz, H. C., Barlati, S., Colombi, M., Loeys, B., De Paepe, A. &lt;strong&gt;Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.&lt;/strong&gt; Nature Genet. 38: 452-457, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16550171/&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;16550171&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1764&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="16550171">Coucke et al. (2006)</a> pictured the typical facial phenotype of ATS with micrognathia, elongated face, downslanting palpebral fissures, blepharophimosis, and a beaked nose. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16550171" 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="Cartwright, M. S., Hickling, W. H., Roach, E. S. &lt;strong&gt;Ischemic stroke in an adolescent with arterial tortuosity syndrome.&lt;/strong&gt; Neurology 67: 360-362, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16864843/&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;16864843&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000225056.66762.f9&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="16864843">Cartwright et al. (2006)</a> reported a 14-year-old African American girl who presented with right arm posturing and decreased verbal output consistent with ischemic stroke. She had a history of congenital rectal prolapse and colonic diverticulitis, and physical examination showed arachnodactyly and joint laxity. Brain imaging showed an acute infarct due to ischemic stroke in the left caudate head, internal capsule, and putamen, as well as extreme tortuosity of the carotid, vertebral, and internal arteries consistent with ATS. <a href="#5" class="mim-tip-reference" title="Cartwright, M. S., Hickling, W. H., Roach, E. S. &lt;strong&gt;Ischemic stroke in an adolescent with arterial tortuosity syndrome.&lt;/strong&gt; Neurology 67: 360-362, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16864843/&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;16864843&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000225056.66762.f9&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="16864843">Cartwright et al. (2006)</a> postulated that fragmentation of the internal elastic membrane may have altered the endothelial surface of a vessel, leading to thrombosis and ischemic stroke. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16864843" 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="Callewaert, B. L., Willaert, A., Kerstjens-Frederikse, W. S., De Backer, J., Devriendt, K., Albrecht, B., Ramos-Arroyo, M. A., Doco-Fenzy, M., Hennekam, R. C. M., Pyeritz, R. E., Krogmann, O. N., Gillessen-Kaesbach, G., and 10 others. &lt;strong&gt;Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.&lt;/strong&gt; Hum. Mutat. 29: 150-158, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17935213/&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;17935213&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20623&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="17935213">Callewaert et al. (2008)</a> reported 16 individuals with arterial tortuosity syndrome from 12 families, 3 of which were consanguineous. Six probands presented with cardiac murmur before age 15 months. Two patients presented with ischemic stroke at ages 8 months and 23 years, respectively. All patients had tortuosity of the aorta or large arteries. Five patients had aberrant origins of aortic side branches, 2 adult patients had aortic root dilation, 7 patients had localized arterial stenoses, and 5 had long stenotic stretches of the aorta. Other common clinical features included long slender face with sagging cheeks, beaked nose, thin skin, large ears, high-arched palate, hernias, and joint laxity. About half of the patients had an aged appearance. Miscellaneous features included macrocephaly in 2 patients, tracheal abnormalities in 2 patients, duplication of the right renal collecting system in 1 patient, and ectopic left kidney and bladder diverticula in 1 patient. All patients and carriers had normal oral glucose tolerance testing and no evidence of hyperglycemia, except 1 carrier who had mild hyperinsulinemia following a recent weight gain. <a href="#4" class="mim-tip-reference" title="Callewaert, B. L., Willaert, A., Kerstjens-Frederikse, W. S., De Backer, J., Devriendt, K., Albrecht, B., Ramos-Arroyo, M. A., Doco-Fenzy, M., Hennekam, R. C. M., Pyeritz, R. E., Krogmann, O. N., Gillessen-Kaesbach, G., and 10 others. &lt;strong&gt;Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.&lt;/strong&gt; Hum. Mutat. 29: 150-158, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17935213/&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;17935213&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20623&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="17935213">Callewaert et al. (2008)</a> emphasized that their patients were significantly older than previously reported, including 10 patients who were over the age of 5 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17935213" 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="Faiyaz-Ul-Haque, M., Zaidi, S. H. E., Wahab, A. A., Eltohami, A., Al-Mureikhi, M. S., Al-Thani, G., Peltekova, V. D., Tsui, L.-C., Teebi, A. S. &lt;strong&gt;Identification of a pSer81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. (Letter)&lt;/strong&gt; Clin. Genet. 74: 189-193, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18565096/&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;18565096&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2008.01049.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="18565096">Faiyaz-Ul-Haque et al. (2008)</a> reported 8 families with ATS, all of whom belonged to a large Bedouin tribe in Qatar. All affected individual showed arterial tortuosity, stenosis of proximal or distal pulmonary artery, hyperextensible skin, hypermobility of small joints, and typical facial features that included elongated faces, saggy cheeks, and micrognathia. Hernias were observed in 4 patients. Skin biopsies from 4 patients showed normal collagen and elastin structures. The large Bedouin kindred had previously been reported by <a href="#1" class="mim-tip-reference" title="Abdul Wahab, A., Janahi, I. A., Eltohami, A., Zeid, A., Ul Haque, M. F., Teebi, A. S. &lt;strong&gt;A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.&lt;/strong&gt; Acta Paediat. 92: 456-462, 2003. Note: Erratum: Acta Paediat. 99: 1112 only, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12801113/&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;12801113&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1651-2227.2003.tb00578.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="12801113">Abdul Wahab et al. (2003)</a> as having a unique form of Ehlers-Danlos syndrome (see, e.g., <a href="/entry/130000">130000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12801113+18565096" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Zaidi, S. H. E., Meyer, S., Peltekova, I., Teebi, A. S., Faiyaz-Ul-Haque, M. &lt;strong&gt;Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene. (Letter)&lt;/strong&gt; Clin. Genet. 75: 588-589, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19508422/&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;19508422&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2009.01165.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="19508422">Zaidi et al. (2009)</a> emphasized that congenital diaphragmatic abnormalities, including diaphragmatic hernia, gastric hernia, sliding hernia, and hiatal hernia, have often been reported in patients with ATS (see, e.g., <a href="#11" class="mim-tip-reference" title="Franceschini, P., Guala, A., Licata, D., Di Cara, G., Franceschini, D. &lt;strong&gt;Arterial tortuosity syndrome.&lt;/strong&gt; Am. J. Med. Genet. 91: 141-143, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10748415/&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;10748415&lt;/a&gt;]" pmid="10748415">Franceschini et al., 2000</a>, <a href="#1" class="mim-tip-reference" title="Abdul Wahab, A., Janahi, I. A., Eltohami, A., Zeid, A., Ul Haque, M. F., Teebi, A. S. &lt;strong&gt;A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.&lt;/strong&gt; Acta Paediat. 92: 456-462, 2003. Note: Erratum: Acta Paediat. 99: 1112 only, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12801113/&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;12801113&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1651-2227.2003.tb00578.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="12801113">Abdul Wahab et al., 2003</a>, <a href="#16" class="mim-tip-reference" title="Wessels, M. W., Catsman-Berrevoets, C. E., Mancini, G. M. S., Breuning, M. H., Hoogeboom, J. J. M., Stroink, H., Frohn-Mulder, I., Coucke, P. J., De Paepe, A., Niermeijer, M. F., Willems, P. J. &lt;strong&gt;Three new families with arterial tortuosity syndrome.&lt;/strong&gt; Am. J. Med. Genet. 131A: 134-143, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15529317/&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;15529317&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30272&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="15529317">Wessels et al., 2004</a>, <a href="#4" class="mim-tip-reference" title="Callewaert, B. L., Willaert, A., Kerstjens-Frederikse, W. S., De Backer, J., Devriendt, K., Albrecht, B., Ramos-Arroyo, M. A., Doco-Fenzy, M., Hennekam, R. C. M., Pyeritz, R. E., Krogmann, O. N., Gillessen-Kaesbach, G., and 10 others. &lt;strong&gt;Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.&lt;/strong&gt; Hum. Mutat. 29: 150-158, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17935213/&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;17935213&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20623&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="17935213">Callewaert et al., 2008</a>). These diaphragmatic abnormalities are consistent with other connective tissue defects seen in ATS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12801113+17935213+10748415+15529317+19508422" 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="Beyens, A., Albuisson, J., Boel, A., Al-Essa, M., Al-Manea, W., Bonnet, D., Bostan, O., Boute, O., Busa, T., Canham, N., Cil, E., Coucke, P. J., and 52 others. &lt;strong&gt;Arterial tortuosity syndrome: 40 new families and literature review.&lt;/strong&gt; Genet. Med. 20: 1236-1245, 2018. Note: Erratum: Genet. Med. 21: 1894-1895, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29323665/&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;29323665&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/gim.2017.253&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="29323665">Beyens et al. (2018)</a> retrospectively characterized 40 novel ATS families (50 patients) and reviewed the 52 previously reported patients. Among the 50 novel patients, 20 had a cardiovascular presentation, 7 had a respiratory presentation (dyspnea or infantile respiratory distress syndrome), and 7 had a cutaneous presentation (4 with cutis laxa and 3 with stretchable skin). Two patients had a gastrointestinal presentation, 1 with pyloric stenosis and 1 with failure to thrive. One presented with gross motor delay. Five were diagnosed because of familial analysis, and for 8 patients their presentation was unknown. Among their 50 patients, 50% had parental consanguinity. Two-thirds of patients had a long face, downslanting palpebral fissures, and/or a high-arched palate. About half had micrognathia, sagging cheeks, or a beaked nose. Half had cutis laxa. In a review of all patients (50 novel and 52 previously reported), the only features reaching greater than 50% were long face (73%), micrognathia (58%), sagging cheeks (54%), hyperextensible skin (61%), joint laxity (76%), aortic tortuosity (92%), tortuosity of other arteries (80%), and stenosis of pulmonary arteries (57%). The authors reported that severe but rare vascular complications included early and aggressive aortic root aneurysms, neonatal intracranial bleeding, ischemic stroke, and gastric perforation. At the time of the report, no reports had unequivocally documented vascular dissections or ruptures. The authors noted that diaphragmatic hernia and infant respiratory distress syndrome were frequently observed. Skin and vascular biopsies showed fragmented elastic fibers and increased collagen deposition. Electron microscopy of skin elastic fibers showed a fragmented elastin core and a peripheral mantle of microfibrils of random directionality. Skin and end-stage diseased vascular tissue did not indicate increased TGF-beta signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29323665" 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="#6" class="mim-tip-reference" title="Coucke, P. J., Wessels, M. W., Van Acker, P., Gardella, R., Barlati, S., Willems, P. J., Colombi, M., De Paepe, A. &lt;strong&gt;Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13.&lt;/strong&gt; J. Med. Genet. 40: 747-751, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14569121/&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;14569121&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.40.10.747&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="14569121">Coucke et al. (2003)</a> reported localization of the arterial tortuosity syndrome locus to chromosome 20q13 by homozygosity mapping in 2 families, and possibly a third. The parents of patients in all cases were consanguineous. Two of the families were Moroccan and may have had a common ancestor, as they originated from the same town. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14569121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Zaidi, S. H. E., Peltekova, V., Meyer, S., Lindinger, A., Paterson, A. D., Tsui, L.-C., Faiyaz-Ul-Haque, M., Teebi, A. S. &lt;strong&gt;A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13.&lt;/strong&gt; Clin. Genet. 67: 183-188, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15679832/&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;15679832&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2004.00391.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="15679832">Zaidi et al. (2005)</a> reported a consanguineous Kurdish family in which an affected child manifested elongation and severe tortuosity of the aorta, carotid, and other arteries, as well as loose skin, hypermobile joints, hernias, and facial features resembling those in EDS. Homozygosity analysis revealed that the affected child was homozygous, whereas the unaffected parents and 3 sibs were heterozygous, for microsatellite markers on 20q13. Additional typing refined the tortuosity locus to a 37-cM region between markers D20S885 and D20S893. No mutations were found in the coding regions of 3 candidate genes, but in the promoter region of the prostaglandin I2 synthase gene (PTGIS; <a href="/entry/601699">601699</a>) the affected child was homozygous for 8 variable number tandem repeats whereas her parents and sibs carried 6 repeats. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15679832" 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 aterial tortuosity syndrome in the families reported by <a href="#7" class="mim-tip-reference" title="Coucke, P. J., Willaert, A., Wessels, M. W., Callewaert, B., Zoppi, N., De Backer, J., Fox, J. E., Mancini, G. M. S., Kambouris, M., Gardella, R., Facchetti, F., Willems, P. J., Forsyth, R., Dietz, H. C., Barlati, S., Colombi, M., Loeys, B., De Paepe, A. &lt;strong&gt;Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.&lt;/strong&gt; Nature Genet. 38: 452-457, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16550171/&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;16550171&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1764&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="16550171">Coucke et al. (2006)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16550171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<p><a href="#7" class="mim-tip-reference" title="Coucke, P. J., Willaert, A., Wessels, M. W., Callewaert, B., Zoppi, N., De Backer, J., Fox, J. E., Mancini, G. M. S., Kambouris, M., Gardella, R., Facchetti, F., Willems, P. J., Forsyth, R., Dietz, H. C., Barlati, S., Colombi, M., Loeys, B., De Paepe, A. &lt;strong&gt;Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.&lt;/strong&gt; Nature Genet. 38: 452-457, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16550171/&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;16550171&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1764&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="16550171">Coucke et al. (2006)</a> narrowed the arterial tortuosity syndrome candidate region on chromosome 20q13.1 to a 1.2-Mb region containing 7 genes. Homozygous mutations in 1 of these genes, SLC2A10, were identified in 6 ATS families. The parents in all 6 families were carriers of the mutation. Deficiency of the facilitative glucose transporter GLUT10, which is encoded by SLC2A10, is associated with upregulation of the TGF-beta (see <a href="/entry/190180">190180</a>) pathway in the arterial wall, a finding also observed in Loeys-Dietz syndrome (<a href="/entry/609192">609192</a>), in which aortic aneurysms associate with arterial tortuosity. The identification of a glucose transporter gene responsible for altered arterial morphogenesis is notable in light of the previously suggested link between GLUT10 and type 2 diabetes (<a href="/entry/125853">125853</a>) (<a href="#8" class="mim-tip-reference" title="Dawson, P. A., Mychaleckyj, J. C., Fossey, S. C., Mihic, S. J., Craddock, A. L., Bowden, D. W. &lt;strong&gt;Sequence and functional analysis of GLUT10: a glucose transporter in the type 2 diabetes-linked region of chromosome 20q12-13.1.&lt;/strong&gt; Molec. Genet. Metab. 74: 186-199, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11592815/&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;11592815&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/mgme.2001.3212&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="11592815">Dawson et al., 2001</a>; <a href="#14" class="mim-tip-reference" title="McVie-Wylie, A. J., Lamson, D. R., Chen, Y. T. &lt;strong&gt;Molecular cloning of a novel member of the GLUT family of transporters, SLC2A10 (GLUT10), localized on chromosome 20q13.1: a candidate gene for NIDDM susceptibility.&lt;/strong&gt; Genomics 72: 113-117, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11247674/&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;11247674&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.2000.6457&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="11247674">McVie-Wylie et al., 2001</a>). The findings of <a href="#7" class="mim-tip-reference" title="Coucke, P. J., Willaert, A., Wessels, M. W., Callewaert, B., Zoppi, N., De Backer, J., Fox, J. E., Mancini, G. M. S., Kambouris, M., Gardella, R., Facchetti, F., Willems, P. J., Forsyth, R., Dietz, H. C., Barlati, S., Colombi, M., Loeys, B., De Paepe, A. &lt;strong&gt;Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.&lt;/strong&gt; Nature Genet. 38: 452-457, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16550171/&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;16550171&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1764&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="16550171">Coucke et al. (2006)</a> could provide new insight on the mechanisms causing microangiopathic changes associated with diabetes and suggested that therapeutic compounds intervening with TGF-beta signaling represent a new treatment strategy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16550171+11247674+11592815" 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 16 patients from 12 families with ATS, <a href="#4" class="mim-tip-reference" title="Callewaert, B. L., Willaert, A., Kerstjens-Frederikse, W. S., De Backer, J., Devriendt, K., Albrecht, B., Ramos-Arroyo, M. A., Doco-Fenzy, M., Hennekam, R. C. M., Pyeritz, R. E., Krogmann, O. N., Gillessen-Kaesbach, G., and 10 others. &lt;strong&gt;Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.&lt;/strong&gt; Hum. Mutat. 29: 150-158, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17935213/&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;17935213&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20623&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="17935213">Callewaert et al. (2008)</a> identified 11 different mutations in the SLC2A10 gene (see, e.g., <a href="/entry/606145#0005">606145.0005</a>-<a href="/entry/606145#0006">606145.0006</a>). Several mutations represented founder effects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17935213" 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="Faiyaz-Ul-Haque, M., Zaidi, S. H. E., Wahab, A. A., Eltohami, A., Al-Mureikhi, M. S., Al-Thani, G., Peltekova, V. D., Tsui, L.-C., Teebi, A. S. &lt;strong&gt;Identification of a pSer81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. (Letter)&lt;/strong&gt; Clin. Genet. 74: 189-193, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18565096/&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;18565096&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2008.01049.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="18565096">Faiyaz-Ul-Haque et al. (2008)</a> identified a homozygous mutation (S81R; <a href="/entry/606145#0004">606145.0004</a>) in affected members of 10 Qatari families with arterial tortuosity syndrome. Eight of the families belonged to a large consanguineous kindred that was part of an extended Bedouin tribe originally reported as having an unique form of Ehlers-Danlos syndrome (<a href="#1" class="mim-tip-reference" title="Abdul Wahab, A., Janahi, I. A., Eltohami, A., Zeid, A., Ul Haque, M. F., Teebi, A. S. &lt;strong&gt;A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.&lt;/strong&gt; Acta Paediat. 92: 456-462, 2003. Note: Erratum: Acta Paediat. 99: 1112 only, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12801113/&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;12801113&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1651-2227.2003.tb00578.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="12801113">Abdul Wahab et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12801113+18565096" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By immunohistochemical analysis, <a href="#19" class="mim-tip-reference" title="Zoppi, N., Chiarelli, N., Cinquina, V., Ritelli, M., Colombi, M. &lt;strong&gt;GLUT10 deficiency leads to oxidative stress and non-canonical alpha-V/beta-3 integrin-mediated TGF-beta signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.&lt;/strong&gt; Hum. Molec. Genet. 24: 6769-6787, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26376865/&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;26376865&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=26376865[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/10.1093/hmg/ddv382&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="26376865">Zoppi et al. (2015)</a> observed disarray of several structural components of the extracellular matrix in skin fibroblasts from 3 ATS patients with different GLUT10 mutations. Expression profiling and quantitative RT-PCR of control and patient fibroblasts revealed differential expression of genes involved in TGF-beta signaling and of genes that influence lipid metabolism, intracellular redox homeostasis, and maintenance of extracellular matrix. Immunofluorescence microscopy, Western blot analysis, and flow cytometry confirmed increased synthesis of ALDH1A1 (<a href="/entry/100640">100640</a>) and PPAR-gamma (PPARG; <a href="/entry/601487">601487</a>) and increased production of reactive oxidative species in ATS patient fibroblasts. Patient fibroblasts also showed activation of a noncanonical alpha-V (ITGAV; <a href="/entry/193210">193210</a>)/beta-3 (ITGB3; <a href="/entry/173470">173470</a>) integrin-mediated TGF-beta signaling pathway. Stable expression of GLUT10 partially normalized ATS fibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26376865" 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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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Abdul Wahab2003" class="mim-anchor"></a>
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Abdul Wahab, A., Janahi, I. A., Eltohami, A., Zeid, A., Ul Haque, M. F., Teebi, A. S.
<strong>A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.</strong>
Acta Paediat. 92: 456-462, 2003. Note: Erratum: Acta Paediat. 99: 1112 only, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12801113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12801113</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12801113" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1651-2227.2003.tb00578.x" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="Beuren1969" class="mim-anchor"></a>
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Beuren, A. J., Hort, W., Kalbfleisch, H., Muller, H., Stoermer, J.
<strong>Dysplasia of the systemic and pulmonary arterial system with tortuosity and lengthening of the arteries: new entity, diagnosed during life, and leading to coronary death in early childhood.</strong>
Circulation 39: 109-115, 1969.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5762119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5762119</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5762119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1161/01.cir.39.1.109" target="_blank">Full Text</a>]
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<a id="Beyens2018" class="mim-anchor"></a>
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Beyens, A., Albuisson, J., Boel, A., Al-Essa, M., Al-Manea, W., Bonnet, D., Bostan, O., Boute, O., Busa, T., Canham, N., Cil, E., Coucke, P. J., and 52 others.
<strong>Arterial tortuosity syndrome: 40 new families and literature review.</strong>
Genet. Med. 20: 1236-1245, 2018. Note: Erratum: Genet. Med. 21: 1894-1895, 2019.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29323665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29323665</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29323665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/gim.2017.253" target="_blank">Full Text</a>]
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<a id="Callewaert2008" class="mim-anchor"></a>
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Callewaert, B. L., Willaert, A., Kerstjens-Frederikse, W. S., De Backer, J., Devriendt, K., Albrecht, B., Ramos-Arroyo, M. A., Doco-Fenzy, M., Hennekam, R. C. M., Pyeritz, R. E., Krogmann, O. N., Gillessen-Kaesbach, G., and 10 others.
<strong>Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.</strong>
Hum. Mutat. 29: 150-158, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17935213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17935213</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17935213" 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.20623" target="_blank">Full Text</a>]
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<a id="Cartwright2006" class="mim-anchor"></a>
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Cartwright, M. S., Hickling, W. H., Roach, E. S.
<strong>Ischemic stroke in an adolescent with arterial tortuosity syndrome.</strong>
Neurology 67: 360-362, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16864843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16864843</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16864843" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/01.wnl.0000225056.66762.f9" target="_blank">Full Text</a>]
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<a id="Coucke2003" class="mim-anchor"></a>
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Coucke, P. J., Wessels, M. W., Van Acker, P., Gardella, R., Barlati, S., Willems, P. J., Colombi, M., De Paepe, A.
<strong>Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13.</strong>
J. Med. Genet. 40: 747-751, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14569121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14569121</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14569121" 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/jmg.40.10.747" target="_blank">Full Text</a>]
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<a id="Coucke2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Coucke, P. J., Willaert, A., Wessels, M. W., Callewaert, B., Zoppi, N., De Backer, J., Fox, J. E., Mancini, G. M. S., Kambouris, M., Gardella, R., Facchetti, F., Willems, P. J., Forsyth, R., Dietz, H. C., Barlati, S., Colombi, M., Loeys, B., De Paepe, A.
<strong>Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.</strong>
Nature Genet. 38: 452-457, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16550171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16550171</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16550171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng1764" target="_blank">Full Text</a>]
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<a id="Dawson2001" class="mim-anchor"></a>
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Dawson, P. A., Mychaleckyj, J. C., Fossey, S. C., Mihic, S. J., Craddock, A. L., Bowden, D. W.
<strong>Sequence and functional analysis of GLUT10: a glucose transporter in the type 2 diabetes-linked region of chromosome 20q12-13.1.</strong>
Molec. Genet. Metab. 74: 186-199, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11592815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11592815</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11592815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1006/mgme.2001.3212" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
<a id="Ertugrul1967" class="mim-anchor"></a>
<div class="">
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Ertugrul, A.
<strong>Diffuse tortuosity and lengthening of the arteries.</strong>
Circulation 36: 400-407, 1967.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6033167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6033167</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6033167" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1161/01.cir.36.3.400" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
<a id="Faiyaz-Ul-Haque2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Faiyaz-Ul-Haque, M., Zaidi, S. H. E., Wahab, A. A., Eltohami, A., Al-Mureikhi, M. S., Al-Thani, G., Peltekova, V. D., Tsui, L.-C., Teebi, A. S.
<strong>Identification of a pSer81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. (Letter)</strong>
Clin. Genet. 74: 189-193, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18565096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18565096</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18565096" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.2008.01049.x" target="_blank">Full Text</a>]
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<a id="Franceschini2000" class="mim-anchor"></a>
<div class="">
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Franceschini, P., Guala, A., Licata, D., Di Cara, G., Franceschini, D.
<strong>Arterial tortuosity syndrome.</strong>
Am. J. Med. Genet. 91: 141-143, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10748415/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10748415</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10748415" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="Gardella2004" class="mim-anchor"></a>
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Gardella, R., Zoppi, N., Assanelli, D., Muiesan, M. L., Barlati, S., Colombi, M.
<strong>Exclusion of candidate genes in a family with arterial tortuosity syndrome.</strong>
Am. J. Med. Genet. 126A: 221-228, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054833</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15054833" 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.20589" target="_blank">Full Text</a>]
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<a id="Lees1969" class="mim-anchor"></a>
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Lees, M. H., Menashe, V. D., Sunderland, C. O., Morgan, C. L., Dawson, P. J.
<strong>Ehlers-Danlos syndrome associated with multiple pulmonary artery stenoses and tortuous systemic arteries.</strong>
J. Pediat. 75: 1031-1036, 1969.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5352829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5352829</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5352829" 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(69)80342-2" target="_blank">Full Text</a>]
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<a id="McVie-Wylie2001" class="mim-anchor"></a>
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McVie-Wylie, A. J., Lamson, D. R., Chen, Y. T.
<strong>Molecular cloning of a novel member of the GLUT family of transporters, SLC2A10 (GLUT10), localized on chromosome 20q13.1: a candidate gene for NIDDM susceptibility.</strong>
Genomics 72: 113-117, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11247674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11247674</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11247674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1006/geno.2000.6457" target="_blank">Full Text</a>]
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<a id="Welch1971" class="mim-anchor"></a>
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Welch, J. P., Aterman, K., Day, E., Roy, D. L.
<strong>Familial aggregation of a 'new' connective tissue disorder, a nosologic problem.</strong>
Birth Defects Orig. Art. Ser. VII(8): 204-213, 1971.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5173261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5173261</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5173261" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="16" class="mim-anchor"></a>
<a id="Wessels2004" class="mim-anchor"></a>
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Wessels, M. W., Catsman-Berrevoets, C. E., Mancini, G. M. S., Breuning, M. H., Hoogeboom, J. J. M., Stroink, H., Frohn-Mulder, I., Coucke, P. J., De Paepe, A., Niermeijer, M. F., Willems, P. J.
<strong>Three new families with arterial tortuosity syndrome.</strong>
Am. J. Med. Genet. 131A: 134-143, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15529317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15529317</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15529317" 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.30272" target="_blank">Full Text</a>]
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<a id="Zaidi2009" class="mim-anchor"></a>
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Zaidi, S. H. E., Meyer, S., Peltekova, I., Teebi, A. S., Faiyaz-Ul-Haque, M.
<strong>Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene. (Letter)</strong>
Clin. Genet. 75: 588-589, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19508422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19508422</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19508422" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.2009.01165.x" target="_blank">Full Text</a>]
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<a id="Zaidi2005" class="mim-anchor"></a>
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Zaidi, S. H. E., Peltekova, V., Meyer, S., Lindinger, A., Paterson, A. D., Tsui, L.-C., Faiyaz-Ul-Haque, M., Teebi, A. S.
<strong>A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13.</strong>
Clin. Genet. 67: 183-188, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15679832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15679832</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15679832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.2004.00391.x" target="_blank">Full Text</a>]
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<a id="Zoppi2015" class="mim-anchor"></a>
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Zoppi, N., Chiarelli, N., Cinquina, V., Ritelli, M., Colombi, M.
<strong>GLUT10 deficiency leads to oxidative stress and non-canonical alpha-V/beta-3 integrin-mediated TGF-beta signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.</strong>
Hum. Molec. Genet. 24: 6769-6787, 2015.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26376865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26376865</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26376865[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=26376865" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/ddv382" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 05/29/2020
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Patricia A. Hartz - updated : 5/17/2016<br>Cassandra L. Kniffin - updated : 5/28/2010<br>Cassandra L. Kniffin - updated : 8/19/2008<br>Cassandra L. Kniffin - updated : 3/3/2008<br>Cassandra L. Kniffin - updated : 7/26/2007<br>Victor A. McKusick - updated : 4/27/2006<br>Marla J. F. O'Neill - updated : 3/16/2005<br>Victor A. McKusick - updated : 1/14/2005<br>Victor A. McKusick - updated : 4/14/2004<br>Victor A. McKusick - updated : 2/9/2004<br>Sonja A. Rasmussen - updated : 4/24/2000
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Creation Date:
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Victor A. McKusick : 6/3/1986
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carol : 04/04/2024
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carol : 06/01/2020<br>alopez : 05/29/2020<br>carol : 01/31/2019<br>mgross : 05/17/2016<br>mgross : 5/17/2016<br>terry : 11/29/2012<br>terry : 4/9/2012<br>wwang : 6/4/2010<br>ckniffin : 5/28/2010<br>terry : 12/17/2009<br>wwang : 8/26/2008<br>ckniffin : 8/19/2008<br>wwang : 3/20/2008<br>ckniffin : 3/3/2008<br>wwang : 8/1/2007<br>ckniffin : 7/26/2007<br>terry : 11/3/2006<br>alopez : 5/1/2006<br>alopez : 5/1/2006<br>terry : 4/27/2006<br>wwang : 3/17/2005<br>wwang : 3/16/2005<br>terry : 3/16/2005<br>wwang : 1/25/2005<br>wwang : 1/19/2005<br>terry : 1/14/2005<br>alopez : 4/16/2004<br>terry : 4/14/2004<br>mgross : 3/17/2004<br>tkritzer : 2/12/2004<br>terry : 2/9/2004<br>mcapotos : 5/3/2000<br>mcapotos : 5/1/2000<br>terry : 4/24/2000<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> 208050
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<span class="mim-font">
ARTERIAL TORTUOSITY SYNDROME; ATORS
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<em>Alternative titles; symbols</em>
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ATS<br />
ARTERIAL TORTUOSITY
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<strong>SNOMEDCT:</strong> 458432002; &nbsp;
<strong>ICD10CM:</strong> Q87.82; &nbsp;
<strong>ORPHA:</strong> 3342; &nbsp;
<strong>DO:</strong> 0050645; &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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20q13.12
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Arterial tortuosity syndrome
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208050
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Autosomal recessive
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3
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SLC2A10
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606145
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that arterial tortuosity syndrome (ATORS) is caused by homozygous or compound heterozygous mutation in the gene encoding glucose transporter GLUT10 (SLC2A10; 606145) on chromosome 20q13.</p>
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<strong>Description</strong>
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<p>Arterial tortuosity syndrome (ATORS) is a rare connective tissue disorder characterized by generalized tortuosity, elongation, stenosis, and aneurysms of the major arteries. Skin and joint abnormalities, including hyperextensibility or hyperlaxity of the skin, joint laxity or contractures, and inguinal hernias, may also be observed. Other abnormalities include micrognathia, elongated face, high palate, beaked nose, sliding hernia, and ventricular hypertrophy (summary by Coucke et al., 2006). </p>
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<strong>Clinical Features</strong>
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<p>From Ankara, Turkey, Ertugrul (1967) described a 10-year-old girl with generalized tortuosity and elongation of all major arteries including the aorta. Telangiectases of the cheeks, high palate, aortic regurgitation and histologic fragmentation of the internal elastic membrane of arteries were noted. Three brothers were well. The parents were also healthy. No comment on consanguinity was made. The same condition may have been present in the boy reported by Beuren et al. (1969). Multiple pulmonary artery stenoses were present. The child reported by Lees et al. (1969) had tortuous systemic arteries and multiple pulmonary artery stenoses, but the skin was considered excessively stretchable, consistent with the Ehlers-Danlos syndrome (EDS; see 130000). The sibs reported by Welch et al. (1971) had features suggesting cutis laxa (219100) with arterial tortuosity of severe degree. The parents were consanguineous. The father and many of his relatives had joint laxity interpreted as the benign hypermobile form of EDS (130020). </p><p>Franceschini et al. (2000) described a male patient with arterial tortuosity syndrome, including generalized tortuosity and elongation of all major arteries, soft skin, joint laxity, severe keratoconus, and diffuse tortuosity of the carotids and intracranial arteries. Cytochemical studies excluded EDS types IV (130050) and VII (225410). The authors suggested that the patient's brother and sister, who died early of unknown causes, probably had the same condition, consistent with an autosomal recessive etiology. </p><p>The clinical picture in the Moroccan patients from 2 families studied by Coucke et al. (2003) consisted of tortuosity of the aorta and pulmonary, subclavian, and renal arteries, as shown by echocardiography, angiography, and/or CT scan. Additional clinical features present in some of these patients were hyperlax skin and joints and/or dilation, aneurysms, and stenosis of the pulmonary arteries and ascending aorta. A third family, originating from southern Sicily, had 4 affected members who showed tortuosity of the major arteries, and 2 members also showed severe pulmonary artery stenosis. Some patients had gastric and inguinal hernias, intestine elongation, and keratoconus. Soft nasal cartilage and micrognathia were noted in some. </p><p>Gardella et al. (2004) reported an Italian pedigree with 3 interrelated sibships in which 5 patients showed signs of ATS. In particular, 4 adult patients presented arterial tortuosity and elongation of the main arteries. Two of these patients, with the most severe degree of arterial tortuosity, also showed severe peripheral stenosis of the main pulmonary artery. The fifth young patient showed a severe pulmonary valve stenosis in the absence of arterial tortuosity. All patients showed signs of EDS: soft skin with abundant subcutaneous tissue and joint laxity, hernias, and disorganization of the extracellular matrix of fibronectin and of actin microfilaments in cultured skin fibroblasts. Linkage analysis excluded genes known to be involved in various forms of Ehlers-Danlos syndrome and other connective tissue disorders, thus indicating that ATS is a distinct clinical and molecular entity. </p><p>Wessels et al. (2004) described 9 additional ATS patients from 3 consanguineous Moroccan families and reviewed 35 patients with this uncommon disorder. The most specific clinical findings were cardiovascular anomalies, including tortuosity, lengthening, aneurysm, and stenosis of major arteries. Ventricular hypertrophy was frequently present. Other anomalies were skin hyperextensibility and cutis laxa, laxity or contractures of the joints, and inguinal hernias. Histology showed disruption of elastic fibers in the media of large vessels. All these features suggested that ATS is a connective tissue disorder. </p><p>Coucke et al. (2006) pictured the typical facial phenotype of ATS with micrognathia, elongated face, downslanting palpebral fissures, blepharophimosis, and a beaked nose. </p><p>Cartwright et al. (2006) reported a 14-year-old African American girl who presented with right arm posturing and decreased verbal output consistent with ischemic stroke. She had a history of congenital rectal prolapse and colonic diverticulitis, and physical examination showed arachnodactyly and joint laxity. Brain imaging showed an acute infarct due to ischemic stroke in the left caudate head, internal capsule, and putamen, as well as extreme tortuosity of the carotid, vertebral, and internal arteries consistent with ATS. Cartwright et al. (2006) postulated that fragmentation of the internal elastic membrane may have altered the endothelial surface of a vessel, leading to thrombosis and ischemic stroke. </p><p>Callewaert et al. (2008) reported 16 individuals with arterial tortuosity syndrome from 12 families, 3 of which were consanguineous. Six probands presented with cardiac murmur before age 15 months. Two patients presented with ischemic stroke at ages 8 months and 23 years, respectively. All patients had tortuosity of the aorta or large arteries. Five patients had aberrant origins of aortic side branches, 2 adult patients had aortic root dilation, 7 patients had localized arterial stenoses, and 5 had long stenotic stretches of the aorta. Other common clinical features included long slender face with sagging cheeks, beaked nose, thin skin, large ears, high-arched palate, hernias, and joint laxity. About half of the patients had an aged appearance. Miscellaneous features included macrocephaly in 2 patients, tracheal abnormalities in 2 patients, duplication of the right renal collecting system in 1 patient, and ectopic left kidney and bladder diverticula in 1 patient. All patients and carriers had normal oral glucose tolerance testing and no evidence of hyperglycemia, except 1 carrier who had mild hyperinsulinemia following a recent weight gain. Callewaert et al. (2008) emphasized that their patients were significantly older than previously reported, including 10 patients who were over the age of 5 years. </p><p>Faiyaz-Ul-Haque et al. (2008) reported 8 families with ATS, all of whom belonged to a large Bedouin tribe in Qatar. All affected individual showed arterial tortuosity, stenosis of proximal or distal pulmonary artery, hyperextensible skin, hypermobility of small joints, and typical facial features that included elongated faces, saggy cheeks, and micrognathia. Hernias were observed in 4 patients. Skin biopsies from 4 patients showed normal collagen and elastin structures. The large Bedouin kindred had previously been reported by Abdul Wahab et al. (2003) as having a unique form of Ehlers-Danlos syndrome (see, e.g., 130000). </p><p>Zaidi et al. (2009) emphasized that congenital diaphragmatic abnormalities, including diaphragmatic hernia, gastric hernia, sliding hernia, and hiatal hernia, have often been reported in patients with ATS (see, e.g., Franceschini et al., 2000, Abdul Wahab et al., 2003, Wessels et al., 2004, Callewaert et al., 2008). These diaphragmatic abnormalities are consistent with other connective tissue defects seen in ATS. </p><p>Beyens et al. (2018) retrospectively characterized 40 novel ATS families (50 patients) and reviewed the 52 previously reported patients. Among the 50 novel patients, 20 had a cardiovascular presentation, 7 had a respiratory presentation (dyspnea or infantile respiratory distress syndrome), and 7 had a cutaneous presentation (4 with cutis laxa and 3 with stretchable skin). Two patients had a gastrointestinal presentation, 1 with pyloric stenosis and 1 with failure to thrive. One presented with gross motor delay. Five were diagnosed because of familial analysis, and for 8 patients their presentation was unknown. Among their 50 patients, 50% had parental consanguinity. Two-thirds of patients had a long face, downslanting palpebral fissures, and/or a high-arched palate. About half had micrognathia, sagging cheeks, or a beaked nose. Half had cutis laxa. In a review of all patients (50 novel and 52 previously reported), the only features reaching greater than 50% were long face (73%), micrognathia (58%), sagging cheeks (54%), hyperextensible skin (61%), joint laxity (76%), aortic tortuosity (92%), tortuosity of other arteries (80%), and stenosis of pulmonary arteries (57%). The authors reported that severe but rare vascular complications included early and aggressive aortic root aneurysms, neonatal intracranial bleeding, ischemic stroke, and gastric perforation. At the time of the report, no reports had unequivocally documented vascular dissections or ruptures. The authors noted that diaphragmatic hernia and infant respiratory distress syndrome were frequently observed. Skin and vascular biopsies showed fragmented elastic fibers and increased collagen deposition. Electron microscopy of skin elastic fibers showed a fragmented elastin core and a peripheral mantle of microfibrils of random directionality. Skin and end-stage diseased vascular tissue did not indicate increased TGF-beta signaling. </p>
</span>
<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Coucke et al. (2003) reported localization of the arterial tortuosity syndrome locus to chromosome 20q13 by homozygosity mapping in 2 families, and possibly a third. The parents of patients in all cases were consanguineous. Two of the families were Moroccan and may have had a common ancestor, as they originated from the same town. </p><p>Zaidi et al. (2005) reported a consanguineous Kurdish family in which an affected child manifested elongation and severe tortuosity of the aorta, carotid, and other arteries, as well as loose skin, hypermobile joints, hernias, and facial features resembling those in EDS. Homozygosity analysis revealed that the affected child was homozygous, whereas the unaffected parents and 3 sibs were heterozygous, for microsatellite markers on 20q13. Additional typing refined the tortuosity locus to a 37-cM region between markers D20S885 and D20S893. No mutations were found in the coding regions of 3 candidate genes, but in the promoter region of the prostaglandin I2 synthase gene (PTGIS; 601699) the affected child was homozygous for 8 variable number tandem repeats whereas her parents and sibs carried 6 repeats. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The transmission pattern of aterial tortuosity syndrome in the families reported by Coucke et al. (2006) was consistent with autosomal recessive inheritance. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Coucke et al. (2006) narrowed the arterial tortuosity syndrome candidate region on chromosome 20q13.1 to a 1.2-Mb region containing 7 genes. Homozygous mutations in 1 of these genes, SLC2A10, were identified in 6 ATS families. The parents in all 6 families were carriers of the mutation. Deficiency of the facilitative glucose transporter GLUT10, which is encoded by SLC2A10, is associated with upregulation of the TGF-beta (see 190180) pathway in the arterial wall, a finding also observed in Loeys-Dietz syndrome (609192), in which aortic aneurysms associate with arterial tortuosity. The identification of a glucose transporter gene responsible for altered arterial morphogenesis is notable in light of the previously suggested link between GLUT10 and type 2 diabetes (125853) (Dawson et al., 2001; McVie-Wylie et al., 2001). The findings of Coucke et al. (2006) could provide new insight on the mechanisms causing microangiopathic changes associated with diabetes and suggested that therapeutic compounds intervening with TGF-beta signaling represent a new treatment strategy. </p><p>In 16 patients from 12 families with ATS, Callewaert et al. (2008) identified 11 different mutations in the SLC2A10 gene (see, e.g., 606145.0005-606145.0006). Several mutations represented founder effects. </p><p>Faiyaz-Ul-Haque et al. (2008) identified a homozygous mutation (S81R; 606145.0004) in affected members of 10 Qatari families with arterial tortuosity syndrome. Eight of the families belonged to a large consanguineous kindred that was part of an extended Bedouin tribe originally reported as having an unique form of Ehlers-Danlos syndrome (Abdul Wahab et al., 2003). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Pathogenesis</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>By immunohistochemical analysis, Zoppi et al. (2015) observed disarray of several structural components of the extracellular matrix in skin fibroblasts from 3 ATS patients with different GLUT10 mutations. Expression profiling and quantitative RT-PCR of control and patient fibroblasts revealed differential expression of genes involved in TGF-beta signaling and of genes that influence lipid metabolism, intracellular redox homeostasis, and maintenance of extracellular matrix. Immunofluorescence microscopy, Western blot analysis, and flow cytometry confirmed increased synthesis of ALDH1A1 (100640) and PPAR-gamma (PPARG; 601487) and increased production of reactive oxidative species in ATS patient fibroblasts. Patient fibroblasts also showed activation of a noncanonical alpha-V (ITGAV; 193210)/beta-3 (ITGB3; 173470) integrin-mediated TGF-beta signaling pathway. Stable expression of GLUT10 partially normalized ATS fibroblasts. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Abdul Wahab, A., Janahi, I. A., Eltohami, A., Zeid, A., Ul Haque, M. F., Teebi, A. S.
<strong>A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.</strong>
Acta Paediat. 92: 456-462, 2003. Note: Erratum: Acta Paediat. 99: 1112 only, 2010.
[PubMed: 12801113]
[Full Text: https://doi.org/10.1111/j.1651-2227.2003.tb00578.x]
</p>
</li>
<li>
<p class="mim-text-font">
Beuren, A. J., Hort, W., Kalbfleisch, H., Muller, H., Stoermer, J.
<strong>Dysplasia of the systemic and pulmonary arterial system with tortuosity and lengthening of the arteries: new entity, diagnosed during life, and leading to coronary death in early childhood.</strong>
Circulation 39: 109-115, 1969.
[PubMed: 5762119]
[Full Text: https://doi.org/10.1161/01.cir.39.1.109]
</p>
</li>
<li>
<p class="mim-text-font">
Beyens, A., Albuisson, J., Boel, A., Al-Essa, M., Al-Manea, W., Bonnet, D., Bostan, O., Boute, O., Busa, T., Canham, N., Cil, E., Coucke, P. J., and 52 others.
<strong>Arterial tortuosity syndrome: 40 new families and literature review.</strong>
Genet. Med. 20: 1236-1245, 2018. Note: Erratum: Genet. Med. 21: 1894-1895, 2019.
[PubMed: 29323665]
[Full Text: https://doi.org/10.1038/gim.2017.253]
</p>
</li>
<li>
<p class="mim-text-font">
Callewaert, B. L., Willaert, A., Kerstjens-Frederikse, W. S., De Backer, J., Devriendt, K., Albrecht, B., Ramos-Arroyo, M. A., Doco-Fenzy, M., Hennekam, R. C. M., Pyeritz, R. E., Krogmann, O. N., Gillessen-Kaesbach, G., and 10 others.
<strong>Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.</strong>
Hum. Mutat. 29: 150-158, 2008.
[PubMed: 17935213]
[Full Text: https://doi.org/10.1002/humu.20623]
</p>
</li>
<li>
<p class="mim-text-font">
Cartwright, M. S., Hickling, W. H., Roach, E. S.
<strong>Ischemic stroke in an adolescent with arterial tortuosity syndrome.</strong>
Neurology 67: 360-362, 2006.
[PubMed: 16864843]
[Full Text: https://doi.org/10.1212/01.wnl.0000225056.66762.f9]
</p>
</li>
<li>
<p class="mim-text-font">
Coucke, P. J., Wessels, M. W., Van Acker, P., Gardella, R., Barlati, S., Willems, P. J., Colombi, M., De Paepe, A.
<strong>Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13.</strong>
J. Med. Genet. 40: 747-751, 2003.
[PubMed: 14569121]
[Full Text: https://doi.org/10.1136/jmg.40.10.747]
</p>
</li>
<li>
<p class="mim-text-font">
Coucke, P. J., Willaert, A., Wessels, M. W., Callewaert, B., Zoppi, N., De Backer, J., Fox, J. E., Mancini, G. M. S., Kambouris, M., Gardella, R., Facchetti, F., Willems, P. J., Forsyth, R., Dietz, H. C., Barlati, S., Colombi, M., Loeys, B., De Paepe, A.
<strong>Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.</strong>
Nature Genet. 38: 452-457, 2006.
[PubMed: 16550171]
[Full Text: https://doi.org/10.1038/ng1764]
</p>
</li>
<li>
<p class="mim-text-font">
Dawson, P. A., Mychaleckyj, J. C., Fossey, S. C., Mihic, S. J., Craddock, A. L., Bowden, D. W.
<strong>Sequence and functional analysis of GLUT10: a glucose transporter in the type 2 diabetes-linked region of chromosome 20q12-13.1.</strong>
Molec. Genet. Metab. 74: 186-199, 2001.
[PubMed: 11592815]
[Full Text: https://doi.org/10.1006/mgme.2001.3212]
</p>
</li>
<li>
<p class="mim-text-font">
Ertugrul, A.
<strong>Diffuse tortuosity and lengthening of the arteries.</strong>
Circulation 36: 400-407, 1967.
[PubMed: 6033167]
[Full Text: https://doi.org/10.1161/01.cir.36.3.400]
</p>
</li>
<li>
<p class="mim-text-font">
Faiyaz-Ul-Haque, M., Zaidi, S. H. E., Wahab, A. A., Eltohami, A., Al-Mureikhi, M. S., Al-Thani, G., Peltekova, V. D., Tsui, L.-C., Teebi, A. S.
<strong>Identification of a pSer81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. (Letter)</strong>
Clin. Genet. 74: 189-193, 2008.
[PubMed: 18565096]
[Full Text: https://doi.org/10.1111/j.1399-0004.2008.01049.x]
</p>
</li>
<li>
<p class="mim-text-font">
Franceschini, P., Guala, A., Licata, D., Di Cara, G., Franceschini, D.
<strong>Arterial tortuosity syndrome.</strong>
Am. J. Med. Genet. 91: 141-143, 2000.
[PubMed: 10748415]
</p>
</li>
<li>
<p class="mim-text-font">
Gardella, R., Zoppi, N., Assanelli, D., Muiesan, M. L., Barlati, S., Colombi, M.
<strong>Exclusion of candidate genes in a family with arterial tortuosity syndrome.</strong>
Am. J. Med. Genet. 126A: 221-228, 2004.
[PubMed: 15054833]
[Full Text: https://doi.org/10.1002/ajmg.a.20589]
</p>
</li>
<li>
<p class="mim-text-font">
Lees, M. H., Menashe, V. D., Sunderland, C. O., Morgan, C. L., Dawson, P. J.
<strong>Ehlers-Danlos syndrome associated with multiple pulmonary artery stenoses and tortuous systemic arteries.</strong>
J. Pediat. 75: 1031-1036, 1969.
[PubMed: 5352829]
[Full Text: https://doi.org/10.1016/s0022-3476(69)80342-2]
</p>
</li>
<li>
<p class="mim-text-font">
McVie-Wylie, A. J., Lamson, D. R., Chen, Y. T.
<strong>Molecular cloning of a novel member of the GLUT family of transporters, SLC2A10 (GLUT10), localized on chromosome 20q13.1: a candidate gene for NIDDM susceptibility.</strong>
Genomics 72: 113-117, 2001.
[PubMed: 11247674]
[Full Text: https://doi.org/10.1006/geno.2000.6457]
</p>
</li>
<li>
<p class="mim-text-font">
Welch, J. P., Aterman, K., Day, E., Roy, D. L.
<strong>Familial aggregation of a &#x27;new&#x27; connective tissue disorder, a nosologic problem.</strong>
Birth Defects Orig. Art. Ser. VII(8): 204-213, 1971.
[PubMed: 5173261]
</p>
</li>
<li>
<p class="mim-text-font">
Wessels, M. W., Catsman-Berrevoets, C. E., Mancini, G. M. S., Breuning, M. H., Hoogeboom, J. J. M., Stroink, H., Frohn-Mulder, I., Coucke, P. J., De Paepe, A., Niermeijer, M. F., Willems, P. J.
<strong>Three new families with arterial tortuosity syndrome.</strong>
Am. J. Med. Genet. 131A: 134-143, 2004.
[PubMed: 15529317]
[Full Text: https://doi.org/10.1002/ajmg.a.30272]
</p>
</li>
<li>
<p class="mim-text-font">
Zaidi, S. H. E., Meyer, S., Peltekova, I., Teebi, A. S., Faiyaz-Ul-Haque, M.
<strong>Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene. (Letter)</strong>
Clin. Genet. 75: 588-589, 2009.
[PubMed: 19508422]
[Full Text: https://doi.org/10.1111/j.1399-0004.2009.01165.x]
</p>
</li>
<li>
<p class="mim-text-font">
Zaidi, S. H. E., Peltekova, V., Meyer, S., Lindinger, A., Paterson, A. D., Tsui, L.-C., Faiyaz-Ul-Haque, M., Teebi, A. S.
<strong>A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13.</strong>
Clin. Genet. 67: 183-188, 2005.
[PubMed: 15679832]
[Full Text: https://doi.org/10.1111/j.1399-0004.2004.00391.x]
</p>
</li>
<li>
<p class="mim-text-font">
Zoppi, N., Chiarelli, N., Cinquina, V., Ritelli, M., Colombi, M.
<strong>GLUT10 deficiency leads to oxidative stress and non-canonical alpha-V/beta-3 integrin-mediated TGF-beta signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.</strong>
Hum. Molec. Genet. 24: 6769-6787, 2015.
[PubMed: 26376865]
[Full Text: https://doi.org/10.1093/hmg/ddv382]
</p>
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