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<title>
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Entry
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- #176450 - CURRARINO SYNDROME
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- OMIM
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<span class="h4">#176450</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/176450"><strong>Clinical Synopsis</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#mapping">Mapping</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(CURRARINO SYNDROME) OR (MNX1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1082&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/2034" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=176450[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1552" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/0c30490d-9e35-4db6-a384-846217b34f38/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111546" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/176450" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA002420/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111546" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 413936007<br />
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<strong>ORPHA:</strong> 1552<br />
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<strong>DO:</strong> 0111546<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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176450
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</span>
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</span>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
CURRARINO SYNDROME
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
|
|
<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">
|
|
CURRARINO TRIAD
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="includedTitles" class="mim-anchor"></a>
|
|
<div>
|
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<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
SACRAL AGENESIS SYNDROME, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
<div>
|
|
<span class="h4 mim-font">
|
|
|
|
SACRAL AGENESIS, HEREDITARY, WITH PRESACRAL MASS, ANTERIOR MENINGOCELE, AND/OR TERATOMA, AND ANORECTAL MALFORMATION, INCLUDED<br />
|
|
SCRA1, INCLUDED
|
|
</span>
|
|
</div>
|
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|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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|
|
<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/7/860?start=-3&limit=10&highlight=860">
|
|
7q36.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Currarino syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176450"> 176450 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
MNX1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142994"> 142994 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/176450" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/176450" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/176450" 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 dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</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> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Chronic constipation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236069009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236069009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K59.09" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K59.09</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0401149&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0401149</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012450" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012450</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012450" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012450</a>]</span><br /> -
|
|
Gastrointestinal obstruction <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/126765001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">126765001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0236124&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0236124</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004796" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004796</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004796" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004796</a>]</span><br /> -
|
|
Abdominal distention <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60728008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60728008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0000731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0000731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003270</a>]</span><br /> -
|
|
Enteric cyst <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/24018003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">24018003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204766008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204766008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0333000&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0333000</a>]</span><br /> -
|
|
Anal atresia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204712000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204712000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q42.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q42.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003466</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002023</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002023</a>]</span><br /> -
|
|
Imperforate anus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204712000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204712000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q42.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q42.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003466</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002023</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002023</a>]</span><br /> -
|
|
Anorectal sinus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867780&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867780</a>]</span><br /> -
|
|
Anal fistula <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/786878009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">786878009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72779005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72779005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K60.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K60.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K60.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K60.3</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K60.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K60.50</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K60.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K60.30</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/565.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">565.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0205929&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0205929</a>, <a href="https://bioportal.bioontology.org/search?q=C0149889&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149889</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010447" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010447</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010447" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010447</a>]</span><br /> -
|
|
Anal stricture <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/69914001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">69914001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0262374&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0262374</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002025" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002025</a>]</span><br /> -
|
|
Perianal sepsis/abscess <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867781&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867781</a>]</span><br /> -
|
|
Rectal dilatation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674610&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674610</a>]</span><br /> -
|
|
Anorectal stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197216007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197216007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K62.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K62.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/569.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">569.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5574707&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5574707</a>]</span><br /> -
|
|
Rectovaginal fistula <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65619001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65619001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N82.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N82.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034895&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034895</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000143" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000143</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000143" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000143</a>]</span><br />
|
|
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|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
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</div>
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Internal Genitalia (Female) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Bicornuate uterus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/31401003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">31401003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/289637001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">289637001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q51.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q51.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.34" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.34</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266387&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266387</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000813" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000813</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000813" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000813</a>]</span><br /> -
|
|
Rectovaginal fistula <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65619001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65619001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N82.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N82.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034895&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034895</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000143" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000143</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000143" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000143</a>]</span><br /> -
|
|
Septate vagina <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/47054003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">47054003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q52.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q52.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266411&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266411</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001153" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001153</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001153" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001153</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Horseshoe kidney <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41729002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41729002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221353&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221353</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000085" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000085</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000085" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000085</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ureters </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Vesicoureteral reflux <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197811007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197811007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.70</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/593.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">593.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042580&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042580</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000076</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000076</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Bladder </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Neurogenic bladder <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397732007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397732007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12454008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12454008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398064005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398064005</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/344.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">344.61</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/596.54" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">596.54</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005697</a>, <a href="https://bioportal.bioontology.org/search?q=C5848144&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848144</a>, <a href="https://bioportal.bioontology.org/search?q=C0007459&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007459</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000011" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000011</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000011" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000011</a>]</span><br /> -
|
|
Recurrent urinary tract infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197927001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197927001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/473116008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">473116008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0262655&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0262655</a>, <a href="https://bioportal.bioontology.org/search?q=C3532611&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3532611</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000010</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000010</a>]</span><br /> -
|
|
Urinary incontinence <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165232002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165232002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R32</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/788.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">788.30</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/788.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">788.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042024&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042024</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000020</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000020</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>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Preserved S1 vertebrae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867783&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867783</a>]</span><br /> -
|
|
Hemisacrum (S2-S5) (75%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2677632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2677632</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009790" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009790</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009790" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009790</a>]</span><br /> -
|
|
Bifid sacrum (22%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4024204&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4024204</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009791" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009791</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009791" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009791</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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<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">
|
|
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- Anterior sacral meningocele <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867776&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867776</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007293" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007293</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007293" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007293</a>]</span><br /> -
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Tethered cord <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70534000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70534000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0080218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0080218</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002144" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002144</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002144" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002144</a>]</span><br /> -
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Developmental delay (microdeletion patients only) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248290002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248290002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a>, <a href="https://bioportal.bioontology.org/search?q=C0424605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424605</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br />
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<strong> NEOPLASIA </strong>
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- Presacral teratoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/281561000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">281561000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559459&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559459</a>, <a href="https://bioportal.bioontology.org/search?q=C4551654&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551654</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009793" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009793</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0030736" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030736</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009793" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009793</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Reduced penetrance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span><br /> -
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Heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% X-ray changes only, 4% non-penetrant<br /> -
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Currarino triad includes - hemisacrum, presacral mass (anterior meningocele, enteric cyst, and/or presacral teratoma) and anorectal anomalies<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the motor neuron and pancreas homeobox 1 gene (MNX1, <a href="/entry/142994#0001">142994.0001</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that at least some cases of the Currarino syndrome are caused by heterozygous mutation in the HLXB9 homeobox gene (MNX1; <a href="/entry/142994">142994</a>) on chromosome 7q36.</p>
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<p>The Currarino syndrome is an autosomal dominant form of hereditary sacral dysgenesis that classically consists of the triad of sacral malformation, presacral mass, and anorectal malformations. However, other features include neonatal-onset bowel obstruction, chronic constipation, recurrent perianal sepsis, renal/urinary tract anomalies, female internal genital anomalies, tethered spinal cord, and anterior meningocele. There is marked inter- and intrafamilial variability, and up to 33% of patients are asymptomatic (summary by <a href="#18" class="mim-tip-reference" title="Wang, R. Y., Jones, J. R., Chen, S., Rogers, R. C., Friez, M. J., Schwartz, C. E., Graham, J. M., Jr. <strong>A previously unreported mutation in a Currarino syndrome kindred.</strong> Am. J. Med. Genet. 140A: 1923-1930, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16906559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16906559</a>] [<a href="https://doi.org/10.1002/ajmg.a.31420" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16906559">Wang et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16906559" 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>Clinical Features</strong>
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<p>The Currarino triad involves the association of partial sacral agenesis with intact first sacral vertebra ('sickle-shaped sacrum'), a presacral mass, and anorectal malformation (<a href="#5" class="mim-tip-reference" title="Currarino, G., Coln, D., Votteler, T. <strong>Triad of anorectal, sacral, and presacral anomalies.</strong> Am. J. Roentgen. 137: 395-398, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6789651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6789651</a>] [<a href="https://doi.org/10.2214/ajr.137.2.395" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6789651">Currarino et al., 1981</a>). The specific sacral anomaly is distinct to this syndrome. Of 10 affected members in the family reported by <a href="#14" class="mim-tip-reference" title="O'Riordain, D. S., O'Connell, P. R., Kirwan, W. O. <strong>Hereditary sacral agenesis with presacral mass and anorectal stenosis: the Currarino triad.</strong> Brit. J. Surg. 78: 536-538, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2059799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2059799</a>] [<a href="https://doi.org/10.1002/bjs.1800780507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2059799">O'Riordain et al. (1991)</a>, only 4 were symptomatic, 3 of these had the full Currarino syndrome (sacral agenesis, presacral mass, and anorectal malformation), and the fourth had an anterior meningocele with no anorectal problems. All 10 had evidence of partial sacral agenesis on x-ray. Constipation and perianal sepsis are common complaints. Ascending infection resulting in E. coli bacterial meningitis has been reported. Associated malformations include rectovaginal fistula, tethering of the cord, duplex ureter, hydronephrosis, vesicoureteral reflux, bicornuate uterus, and neurogenic bladder. Malignant degeneration of the presacral teratoma has also been reported (<a href="#1" class="mim-tip-reference" title="Ashcraft, K. W., Holder, T. M. <strong>Hereditary presacral teratoma.</strong> J. Pediat. Surg. 9: 691-697, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4418917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4418917</a>] [<a href="https://doi.org/10.1016/0022-3468(74)90107-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4418917">Ashcraft and Holder, 1974</a> and <a href="#19" class="mim-tip-reference" title="Yates, V. D., Wilroy, R. S., Whitington, L., Simmons, J. C. H. <strong>Anterior sacral defects: an autosomal dominantly inherited condition.</strong> J. Pediat. 102: 239-242, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6822928/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6822928</a>] [<a href="https://doi.org/10.1016/s0022-3476(83)80528-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6822928">Yates et al., 1983</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2059799+6789651+6822928+4418917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Belloni, E., Martucciello, G., Verderio, D., Ponti, E., Seri, M., Jasonni, V., Torre, M., Ferrari, M., Tsui, L.-C., Scherer, S. W. <strong>Involvement of the HLXB9 homeobox gene in Currarino syndrome. (Letter)</strong> Am. J. Hum. Genet. 66: 312-319, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10631160/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10631160</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10631160[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/302723" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10631160">Belloni et al. (2000)</a> presented evidence that of the 5 specific categories of sacrococcygeal anomalies (<a href="#7" class="mim-tip-reference" title="Kalitzki, M. <strong>Congenital malformations and diabetes. (Letter)</strong> Lancet 286: 641-642, 1965. Note: Originally Volume II. Note: Reply to Stern et al., Lancet I: 1393, 1965."None>Kalitzki, 1965</a>; <a href="#3" class="mim-tip-reference" title="Cama, A., Palmieri, A., Capra, V., Piatelli, G. L., Ravegnani, M., Fondelli, P. <strong>Multidisciplinary management of caudal regression syndrome (26 cases).</strong> Europ. J. Pediat. Surg. 6 Suppl. 1: 44-46, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9008829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9008829</a>]" pmid="9008829">Cama et al., 1996</a>), only hemisacrum is caused by mutations in the HLXB9 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10631160+9008829" 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="Lynch, S. A., Wang, Y., Strachan, T., Burn, J., Lindsay, S. <strong>Autosomal dominant sacral agenesis: Currarino syndrome.</strong> J. Med. Genet. 37: 561-566, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10922380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10922380</a>] [<a href="https://doi.org/10.1136/jmg.37.8.561" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10922380">Lynch et al. (2000)</a> provided a review of the clinical features and molecular basis of Currarino syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10922380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Kim, I.-S., Oh, S., Choi, S.-J., Kim, J.-H., Park, K. H., Park, H.-K., Kim, J.-W., Ki, C.-S. <strong>Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome.</strong> J. Hum. Genet. 52: 698-701, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17612791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17612791</a>] [<a href="https://doi.org/10.1007/s10038-007-0173-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17612791">Kim et al. (2007)</a> reported 2 Korean families with Currarino syndrome. The proband in the first family was a 25-year-old woman with chronic constipation, presacral meningocele, large bony defect of S2 to S5, and rectal dilatation. Two of her sisters and a nephew were also affected. In the second family, a 6-month-old infant girl developed fatal polymicrobial cerebritis and arachnoiditis. She was found to have a presacral mature cystic teratoma with an extension of the spinal canal associated with possible cord tethering to the mass, anterior bony defect of distal sacrum, and left hydroureteronephrosis. Her father had chronic constipation and an anal fistula, and her paternal grandmother had a megacolon. Genetic analysis identified 2 different HLXB9 mutations that segregated with the phenotype in each family; there were a total of 4 asymptomatic mutation carriers in the 2 families, indicating reduced penetrance. Two additional sporadic Korean patients with Currarino syndrome did not have mutations in the HLXB9 gene, suggesting genetic heterogeneity or undetected somatic mosaicism in sporadic cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17612791" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Ashcraft, K. W., Holder, T. M. <strong>Hereditary presacral teratoma.</strong> J. Pediat. Surg. 9: 691-697, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4418917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4418917</a>] [<a href="https://doi.org/10.1016/0022-3468(74)90107-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4418917">Ashcraft and Holder (1974)</a> obtained clear evidence of autosomal dominant inheritance in this condition which has variable expressivity. They described 2 families with 23 affected members. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4418917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#4" class="mim-tip-reference" title="Cretolle, C., Sarnacki, S., Amiel, J., Genevieve, D., Encha-Razavi, F., Zrelli, S., Zerah, M., Nihoul Fekete, C., Lyonnet, S. <strong>Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphism.</strong> Am. J. Med. Genet. 143A: 871-874, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17352395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17352395</a>] [<a href="https://doi.org/10.1002/ajmg.a.31655" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17352395">Cretolle et al. (2007)</a> reported prenatal diagnosis of Currarino syndrome by ultrasound in a second pregnancy at 22 weeks' gestation. The mother had a previous pregnancy in which the newborn had complex malformations consistent with Currarino syndrome, including sickle-shaped sacrum, anorectal malformation, and presacral teratoma. The mother had a history of sickle-shaped sacrum, anal atresia with cutaneous fistula, and neonatal intestinal obstruction surgically repaired at age 2 months. Genetic analysis identified a pathogenic mutation in the HLXB9 gene in both the mother and first newborn. The second pregnancy was terminated after ultrasound detected severe ventriculomegaly in association with spinal dysraphism, suggestive of Currarino syndrome, which was confirmed by genetic analysis and postmortem examination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17352395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#10" class="mim-tip-reference" title="Lynch, S. A., Bond, P. M., Copp, A. J., Kirwan, W. O., Nour, S., Balling, R., Mariman, E., Burn, J., Strachan, T. <strong>A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36.</strong> Nature Genet. 11: 93-95, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7550324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7550324</a>] [<a href="https://doi.org/10.1038/ng0995-93" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7550324">Lynch et al. (1995)</a> demonstrated linkage at 7q36 in the families reported by <a href="#14" class="mim-tip-reference" title="O'Riordain, D. S., O'Connell, P. R., Kirwan, W. O. <strong>Hereditary sacral agenesis with presacral mass and anorectal stenosis: the Currarino triad.</strong> Brit. J. Surg. 78: 536-538, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2059799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2059799</a>] [<a href="https://doi.org/10.1002/bjs.1800780507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2059799">O'Riordain et al. (1991)</a> and <a href="#13" class="mim-tip-reference" title="Nour, S., Kumar, D., Dickson, J. <strong>Anorectal malformations with sacral bony abnormalities..</strong> Arch. Dis. Child. 64: 1618-1620, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2604421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2604421</a>] [<a href="https://doi.org/10.1136/adc.64.11.1618" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2604421">Nour et al. (1989)</a>. The region 7q36 was considered a good candidate region because of several case reports describing sacral agenesis in association with 7q deletion. The gene maps to the same region as HPE3 (<a href="/entry/142945">142945</a>), a gene for autosomal dominant holoprosencephaly. Deletions involving 7q are also associated with holoprosencephaly suggesting that haploinsufficiency at this locus predisposes to both disorders. Both disorders are midline embryonic defects. The authors also pointed to the fact that the incidence of both disorders are increased in infants born to diabetic mothers. <a href="#10" class="mim-tip-reference" title="Lynch, S. A., Bond, P. M., Copp, A. J., Kirwan, W. O., Nour, S., Balling, R., Mariman, E., Burn, J., Strachan, T. <strong>A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36.</strong> Nature Genet. 11: 93-95, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7550324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7550324</a>] [<a href="https://doi.org/10.1038/ng0995-93" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7550324">Lynch et al. (1995)</a> suggested that these 2 conditions are possibly contiguous gene syndromes or even allelic variants. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2059799+2604421+7550324" 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="Lynch, S. A., Bond, P. M., Copp, A. J., Kirwan, W. O., Nour, S., Balling, R., Mariman, E., Burn, J., Strachan, T. <strong>A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36.</strong> Nature Genet. 11: 93-95, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7550324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7550324</a>] [<a href="https://doi.org/10.1038/ng0995-93" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7550324">Lynch et al. (1995)</a> obtained a maximum lod score of 4.38 at theta = 0.0 with marker D7S559. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7550324" 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="Nagai, T., Katoh, R., Hasegawa, T., Ohashi, H., Fukushima, Y. <strong>Currarino triad (anorectal malformation, sacral bony abnormality and presacral mass) with partial trisomy of chromosomes 13q and 20p. (Letter)</strong> Clin. Genet. 45: 272-273, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8076416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8076416</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1994.tb04156.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8076416">Nagai et al. (1994)</a> described a Japanese male with typical Currarino triad who showed partial trisomy of 13q and 20p inherited from his mother, suggesting that the disorder may be heterogeneous and that a second locus may be present on 13q or 20p. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8076416" 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="#17" class="mim-tip-reference" title="Wang, J., Spitz, L., Hayward, R., Kiely, E., Hall, C. M., O'Donoghue, D. P., Palmer, R., Goodman, F. R., Scambler, P. J., Winter, R. M., Reardon, W. <strong>Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families.</strong> Europ. J. Pediat. 158: 902-905, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10541945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10541945</a>] [<a href="https://doi.org/10.1007/s004310051238" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10541945">Wang et al. (1999)</a> reported a family in which the presence of sacral dysgenesis in sibs and their maternal uncle prompted specific cytogenetic investigation of chromosome 7. Cytogenetic analysis showed that the mother of the 2 affected children carried a balanced translocation between chromosome 7q36 and 12q24. Both children were monosomic for 7q36, as they had inherited the deleted chromosome 7 from their mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10541945" 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="#15" class="mim-tip-reference" title="Ross, A. J., Ruiz-Perez, V., Wang, Y., Hagan, D.-M., Scherer, S., Lynch, S. A., Lindsay, S., Custard, E., Belloni, E., Wilson, D. I., Wadey, R., Goodman, F., Orstavik, K. H., Monclair, T., Robson, S., Reardon, W., Burn, J., Scambler, P., Strachan, T. <strong>A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis.</strong> Nature Genet. 20: 358-361, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843207</a>] [<a href="https://doi.org/10.1038/3828" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9843207">Ross et al. (1998)</a> were prompted to investigate the sacral expression of HLXB9 (<a href="/entry/142994">142994</a>) in cases of sacral agenesis by a report of tailbud expression of the homolog in Xenopus laevis. <a href="#15" class="mim-tip-reference" title="Ross, A. J., Ruiz-Perez, V., Wang, Y., Hagan, D.-M., Scherer, S., Lynch, S. A., Lindsay, S., Custard, E., Belloni, E., Wilson, D. I., Wadey, R., Goodman, F., Orstavik, K. H., Monclair, T., Robson, S., Reardon, W., Burn, J., Scambler, P., Strachan, T. <strong>A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis.</strong> Nature Genet. 20: 358-361, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843207</a>] [<a href="https://doi.org/10.1038/3828" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9843207">Ross et al. (1998)</a> found that HLXB9 was detectable in the sacral region during embryogenesis, albeit predominantly in the anterior horn regions of the spinal cord. Malformation at the caudal end of the developing notochord at approximately Carnegie stage 7 (16 post-ovulatory days), which results in aberrant secondary neurulation, can explain the observed pattern of anomalies in Currarino syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9843207" 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="#15" class="mim-tip-reference" title="Ross, A. J., Ruiz-Perez, V., Wang, Y., Hagan, D.-M., Scherer, S., Lynch, S. A., Lindsay, S., Custard, E., Belloni, E., Wilson, D. I., Wadey, R., Goodman, F., Orstavik, K. H., Monclair, T., Robson, S., Reardon, W., Burn, J., Scambler, P., Strachan, T. <strong>A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis.</strong> Nature Genet. 20: 358-361, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843207</a>] [<a href="https://doi.org/10.1038/3828" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9843207">Ross et al. (1998)</a> demonstrated mutations in the homeobox gene HLXB9 (<a href="/entry/142994">142994</a>) as the cause of the Currarino syndrome. In the families they studied, some individuals had the typical scimitar, or sickle-shaped, hemisacrum but were asymptomatic, whereas others had the full Currarino syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9843207" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Hagan, D. M., Ross, A. J., Strachan, T., Lynch, S. A., Ruiz-Perez, V., Wang, Y. M., Scambler, P., Custard, E., Reardon, W., Hassan, S., Nixon, P., Papapetrou, C., and 13 others. <strong>Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.</strong> Am. J. Hum. Genet. 66: 1504-1515, 2000. Note: Erratum: Am. J. Hum. Genet. 67: 769 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10749657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10749657</a>] [<a href="https://doi.org/10.1086/302899" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10749657">Hagan et al. (2000)</a> identified mutations in the HLXB9 gene in 20 of 21 patients with familial Currarino syndrome and in 2 of 7 patients with sporadic Currarino syndrome. In 3 of the patients, pathogenesis was due to a microdeletion that encompassed HLXB9 in the D7S637-D7S594 interval. All 3 of the microdeletion patients also had developmental delay, and 1 of them had a single maxillary incisor, a feature associated with holoprosencephaly. <a href="#6" class="mim-tip-reference" title="Hagan, D. M., Ross, A. J., Strachan, T., Lynch, S. A., Ruiz-Perez, V., Wang, Y. M., Scambler, P., Custard, E., Reardon, W., Hassan, S., Nixon, P., Papapetrou, C., and 13 others. <strong>Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.</strong> Am. J. Hum. Genet. 66: 1504-1515, 2000. Note: Erratum: Am. J. Hum. Genet. 67: 769 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10749657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10749657</a>] [<a href="https://doi.org/10.1086/302899" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10749657">Hagan et al. (2000)</a> stated that FISH analysis of this patient revealed a deletion in the SHH gene (<a href="/entry/600725">600725</a>) as well. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10749657" 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 affected members of a 3-generation family segregating Currarino syndrome, <a href="#16" class="mim-tip-reference" title="Urioste, M., Garcia-Andrade, M. C., Valle, L., Robledo, M., Gonzalez-Palacios, F., Mendez, R., Ferreiros, J., Nuno, J., Benitez, J. <strong>Malignant degeneration of presacral teratoma in the Currarino anomaly.</strong> Am. J. Med. Genet. 128A: 299-304, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15216552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15216552</a>] [<a href="https://doi.org/10.1002/ajmg.a.30028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15216552">Urioste et al. (2004)</a> identified a frameshift mutation in the HLXB9 gene (<a href="/entry/142994#0009">142994.0009</a>). The mutation was identified in the proband, a 22-year-old male in whom malignant transformation of a presacral teratoma was observed, as well as in 8 other family members, 3 of whom were asymptomatic but were subsequently found to have presacral teratomas. Of 9 family members with the mutation, 7 had confirmed teratomas, 1 had a presacral 'tumor' removed 15 years previously, and 1 refused removal of a presacral mass. Only 2 affected members displayed the complete triad. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15216552" 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 6 affected members of a 4-generation family with Currarino syndrome, <a href="#18" class="mim-tip-reference" title="Wang, R. Y., Jones, J. R., Chen, S., Rogers, R. C., Friez, M. J., Schwartz, C. E., Graham, J. M., Jr. <strong>A previously unreported mutation in a Currarino syndrome kindred.</strong> Am. J. Med. Genet. 140A: 1923-1930, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16906559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16906559</a>] [<a href="https://doi.org/10.1002/ajmg.a.31420" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16906559">Wang et al. (2006)</a> identified heterozygosity for a nonsense mutation in the HLXB9 gene (<a href="/entry/142994#0010">142994.0010</a>). All manifestations of the Currarino syndrome were seen in mutation carriers, ranging from a severely affected girl with anorectal duplication, constipation, presacral lipoma, anterior meningocele, hypoplastic sacrum, and recurrent urinary tract infections with hydronephrosis, to an anatomically normal man whose only manifestation was constipation. The mutation was not found in 5 asymptomatic family members. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16906559" 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="#9" class="mim-tip-reference" title="Kochling, J., Karbasiyan, M., Reis, A. <strong>Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome.</strong> Europ. J. Hum. Genet. 9: 599-605, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528505</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200683" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528505">Kochling et al. (2001)</a> analyzed the genotype-phenotype correlation in 23 patients from 9 families with mutations in the homeobox gene HLXB9. Although 10 of the patients were asymptomatic, radiologic investigation revealed characteristic phenotypic features in all patients. The complete triad, consisting of a presacral mass, anorectal malformation, and sacral agenesis, was found only in 8 of the 23 patients. There was a remarkable variability of the sacral agenesis. A highly variable phenotype was seen within most families, and a detailed clinical investigation failed to identify any obvious genotype-phenotype correlation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528505" 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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Cretolle, C., Sarnacki, S., Amiel, J., Genevieve, D., Encha-Razavi, F., Zrelli, S., Zerah, M., Nihoul Fekete, C., Lyonnet, S.
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Hagan, D. M., Ross, A. J., Strachan, T., Lynch, S. A., Ruiz-Perez, V., Wang, Y. M., Scambler, P., Custard, E., Reardon, W., Hassan, S., Nixon, P., Papapetrou, C., and 13 others.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10749657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10749657</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10749657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/302899" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s10038-007-0173-y" target="_blank">Full Text</a>]
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Kochling, J., Karbasiyan, M., Reis, A.
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<strong>Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome.</strong>
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Europ. J. Hum. Genet. 9: 599-605, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528505</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528505" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5200683" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng0995-93" target="_blank">Full Text</a>]
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Lynch, S. A., Wang, Y., Strachan, T., Burn, J., Lindsay, S.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10922380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10922380</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10922380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.37.8.561" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1994.tb04156.x" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2604421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2604421</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2604421" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/adc.64.11.1618" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="O'Riordain1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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O'Riordain, D. S., O'Connell, P. R., Kirwan, W. O.
|
|
<strong>Hereditary sacral agenesis with presacral mass and anorectal stenosis: the Currarino triad.</strong>
|
|
Brit. J. Surg. 78: 536-538, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2059799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2059799</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2059799" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/bjs.1800780507" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Ross1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ross, A. J., Ruiz-Perez, V., Wang, Y., Hagan, D.-M., Scherer, S., Lynch, S. A., Lindsay, S., Custard, E., Belloni, E., Wilson, D. I., Wadey, R., Goodman, F., Orstavik, K. H., Monclair, T., Robson, S., Reardon, W., Burn, J., Scambler, P., Strachan, T.
|
|
<strong>A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis.</strong>
|
|
Nature Genet. 20: 358-361, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843207</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9843207" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/3828" target="_blank">Full Text</a>]
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</p>
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</li>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Urioste2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Urioste, M., Garcia-Andrade, M. C., Valle, L., Robledo, M., Gonzalez-Palacios, F., Mendez, R., Ferreiros, J., Nuno, J., Benitez, J.
|
|
<strong>Malignant degeneration of presacral teratoma in the Currarino anomaly.</strong>
|
|
Am. J. Med. Genet. 128A: 299-304, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15216552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15216552</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15216552" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30028" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Wang1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, J., Spitz, L., Hayward, R., Kiely, E., Hall, C. M., O'Donoghue, D. P., Palmer, R., Goodman, F. R., Scambler, P. J., Winter, R. M., Reardon, W.
|
|
<strong>Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families.</strong>
|
|
Europ. J. Pediat. 158: 902-905, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10541945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10541945</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10541945" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s004310051238" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Wang2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, R. Y., Jones, J. R., Chen, S., Rogers, R. C., Friez, M. J., Schwartz, C. E., Graham, J. M., Jr.
|
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<strong>A previously unreported mutation in a Currarino syndrome kindred.</strong>
|
|
Am. J. Med. Genet. 140A: 1923-1930, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16906559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16906559</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16906559" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.31420" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Yates1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yates, V. D., Wilroy, R. S., Whitington, L., Simmons, J. C. H.
|
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<strong>Anterior sacral defects: an autosomal dominantly inherited condition.</strong>
|
|
J. Pediat. 102: 239-242, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6822928/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6822928</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6822928" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(83)80528-9" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 9/4/2007
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 5/17/2007<br>Marla J. F. O'Neill - updated : 10/25/2006<br>Kelly A. Przylepa - updated : 2/18/2005<br>Marla J. F. O'Neill - updated : 9/27/2004<br>Michael B. Petersen - updated : 2/8/2002<br>Michael J. Wright - updated : 8/7/2001<br>Armand Bottani - updated : 3/14/2000<br>Victor A. McKusick - updated : 2/4/2000<br>Victor A. McKusick - updated : 11/24/1998
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 07/07/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/03/2022<br>carol : 08/02/2022<br>carol : 07/30/2022<br>alopez : 07/12/2022<br>carol : 12/14/2017<br>carol : 12/13/2017<br>carol : 11/02/2016<br>terry : 11/28/2012<br>terry : 11/8/2010<br>carol : 2/2/2010<br>terry : 2/9/2009<br>carol : 9/13/2007<br>ckniffin : 9/4/2007<br>wwang : 6/11/2007<br>ckniffin : 5/17/2007<br>wwang : 10/26/2006<br>terry : 10/25/2006<br>carol : 8/1/2006<br>ckniffin : 7/27/2006<br>carol : 7/21/2006<br>wwang : 2/28/2005<br>terry : 2/18/2005<br>carol : 9/28/2004<br>tkritzer : 9/27/2004<br>terry : 3/18/2004<br>alopez : 2/8/2002<br>cwells : 8/16/2001<br>cwells : 8/8/2001<br>terry : 8/7/2001<br>mcapotos : 2/12/2001<br>carol : 3/15/2000<br>terry : 3/14/2000<br>carol : 3/9/2000<br>carol : 3/9/2000<br>mcapotos : 2/29/2000<br>mcapotos : 2/10/2000<br>terry : 2/4/2000<br>alopez : 11/30/1998<br>terry : 11/24/1998<br>carol : 6/16/1998<br>mark : 2/22/1996<br>terry : 2/20/1996<br>mark : 1/21/1996<br>John : 11/9/1995<br>jburn : 11/2/1995<br>terry : 9/11/1995<br>mark : 8/31/1995<br>mimadm : 2/25/1995<br>carol : 1/12/1995
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 176450
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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CURRARINO SYNDROME
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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CURRARINO TRIAD
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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SACRAL AGENESIS SYNDROME, INCLUDED
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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SACRAL AGENESIS, HEREDITARY, WITH PRESACRAL MASS, ANTERIOR MENINGOCELE, AND/OR TERATOMA, AND ANORECTAL MALFORMATION, INCLUDED<br />
|
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SCRA1, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 413936007;
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<strong>ORPHA:</strong> 1552;
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<strong>DO:</strong> 0111546;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
|
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</th>
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
|
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</th>
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<th>
|
|
Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
|
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
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7q36.3
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Currarino syndrome
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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176450
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Autosomal dominant
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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3
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
MNX1
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
142994
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
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</span>
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</h4>
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<span class="mim-text-font">
|
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<p>A number sign (#) is used with this entry because of evidence that at least some cases of the Currarino syndrome are caused by heterozygous mutation in the HLXB9 homeobox gene (MNX1; 142994) on chromosome 7q36.</p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Description</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>The Currarino syndrome is an autosomal dominant form of hereditary sacral dysgenesis that classically consists of the triad of sacral malformation, presacral mass, and anorectal malformations. However, other features include neonatal-onset bowel obstruction, chronic constipation, recurrent perianal sepsis, renal/urinary tract anomalies, female internal genital anomalies, tethered spinal cord, and anterior meningocele. There is marked inter- and intrafamilial variability, and up to 33% of patients are asymptomatic (summary by Wang et al., 2006). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<p>The Currarino triad involves the association of partial sacral agenesis with intact first sacral vertebra ('sickle-shaped sacrum'), a presacral mass, and anorectal malformation (Currarino et al., 1981). The specific sacral anomaly is distinct to this syndrome. Of 10 affected members in the family reported by O'Riordain et al. (1991), only 4 were symptomatic, 3 of these had the full Currarino syndrome (sacral agenesis, presacral mass, and anorectal malformation), and the fourth had an anterior meningocele with no anorectal problems. All 10 had evidence of partial sacral agenesis on x-ray. Constipation and perianal sepsis are common complaints. Ascending infection resulting in E. coli bacterial meningitis has been reported. Associated malformations include rectovaginal fistula, tethering of the cord, duplex ureter, hydronephrosis, vesicoureteral reflux, bicornuate uterus, and neurogenic bladder. Malignant degeneration of the presacral teratoma has also been reported (Ashcraft and Holder, 1974 and Yates et al., 1983). </p><p>Belloni et al. (2000) presented evidence that of the 5 specific categories of sacrococcygeal anomalies (Kalitzki, 1965; Cama et al., 1996), only hemisacrum is caused by mutations in the HLXB9 gene. </p><p>Lynch et al. (2000) provided a review of the clinical features and molecular basis of Currarino syndrome. </p><p>Kim et al. (2007) reported 2 Korean families with Currarino syndrome. The proband in the first family was a 25-year-old woman with chronic constipation, presacral meningocele, large bony defect of S2 to S5, and rectal dilatation. Two of her sisters and a nephew were also affected. In the second family, a 6-month-old infant girl developed fatal polymicrobial cerebritis and arachnoiditis. She was found to have a presacral mature cystic teratoma with an extension of the spinal canal associated with possible cord tethering to the mass, anterior bony defect of distal sacrum, and left hydroureteronephrosis. Her father had chronic constipation and an anal fistula, and her paternal grandmother had a megacolon. Genetic analysis identified 2 different HLXB9 mutations that segregated with the phenotype in each family; there were a total of 4 asymptomatic mutation carriers in the 2 families, indicating reduced penetrance. Two additional sporadic Korean patients with Currarino syndrome did not have mutations in the HLXB9 gene, suggesting genetic heterogeneity or undetected somatic mosaicism in sporadic cases. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Ashcraft and Holder (1974) obtained clear evidence of autosomal dominant inheritance in this condition which has variable expressivity. They described 2 families with 23 affected members. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Diagnosis</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p><strong><em>Prenatal Diagnosis</em></strong></p><p>
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Cretolle et al. (2007) reported prenatal diagnosis of Currarino syndrome by ultrasound in a second pregnancy at 22 weeks' gestation. The mother had a previous pregnancy in which the newborn had complex malformations consistent with Currarino syndrome, including sickle-shaped sacrum, anorectal malformation, and presacral teratoma. The mother had a history of sickle-shaped sacrum, anal atresia with cutaneous fistula, and neonatal intestinal obstruction surgically repaired at age 2 months. Genetic analysis identified a pathogenic mutation in the HLXB9 gene in both the mother and first newborn. The second pregnancy was terminated after ultrasound detected severe ventriculomegaly in association with spinal dysraphism, suggestive of Currarino syndrome, which was confirmed by genetic analysis and postmortem examination. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Lynch et al. (1995) demonstrated linkage at 7q36 in the families reported by O'Riordain et al. (1991) and Nour et al. (1989). The region 7q36 was considered a good candidate region because of several case reports describing sacral agenesis in association with 7q deletion. The gene maps to the same region as HPE3 (142945), a gene for autosomal dominant holoprosencephaly. Deletions involving 7q are also associated with holoprosencephaly suggesting that haploinsufficiency at this locus predisposes to both disorders. Both disorders are midline embryonic defects. The authors also pointed to the fact that the incidence of both disorders are increased in infants born to diabetic mothers. Lynch et al. (1995) suggested that these 2 conditions are possibly contiguous gene syndromes or even allelic variants. </p><p>Lynch et al. (1995) obtained a maximum lod score of 4.38 at theta = 0.0 with marker D7S559. </p><p>Nagai et al. (1994) described a Japanese male with typical Currarino triad who showed partial trisomy of 13q and 20p inherited from his mother, suggesting that the disorder may be heterogeneous and that a second locus may be present on 13q or 20p. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cytogenetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Wang et al. (1999) reported a family in which the presence of sacral dysgenesis in sibs and their maternal uncle prompted specific cytogenetic investigation of chromosome 7. Cytogenetic analysis showed that the mother of the 2 affected children carried a balanced translocation between chromosome 7q36 and 12q24. Both children were monosomic for 7q36, as they had inherited the deleted chromosome 7 from their mother. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Pathogenesis</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Ross et al. (1998) were prompted to investigate the sacral expression of HLXB9 (142994) in cases of sacral agenesis by a report of tailbud expression of the homolog in Xenopus laevis. Ross et al. (1998) found that HLXB9 was detectable in the sacral region during embryogenesis, albeit predominantly in the anterior horn regions of the spinal cord. Malformation at the caudal end of the developing notochord at approximately Carnegie stage 7 (16 post-ovulatory days), which results in aberrant secondary neurulation, can explain the observed pattern of anomalies in Currarino syndrome. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Ross et al. (1998) demonstrated mutations in the homeobox gene HLXB9 (142994) as the cause of the Currarino syndrome. In the families they studied, some individuals had the typical scimitar, or sickle-shaped, hemisacrum but were asymptomatic, whereas others had the full Currarino syndrome. </p><p>Hagan et al. (2000) identified mutations in the HLXB9 gene in 20 of 21 patients with familial Currarino syndrome and in 2 of 7 patients with sporadic Currarino syndrome. In 3 of the patients, pathogenesis was due to a microdeletion that encompassed HLXB9 in the D7S637-D7S594 interval. All 3 of the microdeletion patients also had developmental delay, and 1 of them had a single maxillary incisor, a feature associated with holoprosencephaly. Hagan et al. (2000) stated that FISH analysis of this patient revealed a deletion in the SHH gene (600725) as well. </p><p>In affected members of a 3-generation family segregating Currarino syndrome, Urioste et al. (2004) identified a frameshift mutation in the HLXB9 gene (142994.0009). The mutation was identified in the proband, a 22-year-old male in whom malignant transformation of a presacral teratoma was observed, as well as in 8 other family members, 3 of whom were asymptomatic but were subsequently found to have presacral teratomas. Of 9 family members with the mutation, 7 had confirmed teratomas, 1 had a presacral 'tumor' removed 15 years previously, and 1 refused removal of a presacral mass. Only 2 affected members displayed the complete triad. </p><p>In 6 affected members of a 4-generation family with Currarino syndrome, Wang et al. (2006) identified heterozygosity for a nonsense mutation in the HLXB9 gene (142994.0010). All manifestations of the Currarino syndrome were seen in mutation carriers, ranging from a severely affected girl with anorectal duplication, constipation, presacral lipoma, anterior meningocele, hypoplastic sacrum, and recurrent urinary tract infections with hydronephrosis, to an anatomically normal man whose only manifestation was constipation. The mutation was not found in 5 asymptomatic family members. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kochling et al. (2001) analyzed the genotype-phenotype correlation in 23 patients from 9 families with mutations in the homeobox gene HLXB9. Although 10 of the patients were asymptomatic, radiologic investigation revealed characteristic phenotypic features in all patients. The complete triad, consisting of a presacral mass, anorectal malformation, and sacral agenesis, was found only in 8 of the 23 patients. There was a remarkable variability of the sacral agenesis. A highly variable phenotype was seen within most families, and a detailed clinical investigation failed to identify any obvious genotype-phenotype correlation. </p>
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</span>
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<div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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Ashcraft, K. W., Holder, T. M.
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<strong>Hereditary presacral teratoma.</strong>
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J. Pediat. Surg. 9: 691-697, 1974.
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Belloni, E., Martucciello, G., Verderio, D., Ponti, E., Seri, M., Jasonni, V., Torre, M., Ferrari, M., Tsui, L.-C., Scherer, S. W.
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Cama, A., Palmieri, A., Capra, V., Piatelli, G. L., Ravegnani, M., Fondelli, P.
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Hagan, D. M., Ross, A. J., Strachan, T., Lynch, S. A., Ruiz-Perez, V., Wang, Y. M., Scambler, P., Custard, E., Reardon, W., Hassan, S., Nixon, P., Papapetrou, C., and 13 others.
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<strong>Congenital malformations and diabetes. (Letter)</strong>
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Lancet 286: 641-642, 1965. Note: Originally Volume II. Note: Reply to Stern et al., Lancet I: 1393, 1965.
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Kim, I.-S., Oh, S., Choi, S.-J., Kim, J.-H., Park, K. H., Park, H.-K., Kim, J.-W., Ki, C.-S.
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Lynch, S. A., Wang, Y., Strachan, T., Burn, J., Lindsay, S.
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Nagai, T., Katoh, R., Hasegawa, T., Ohashi, H., Fukushima, Y.
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Ross, A. J., Ruiz-Perez, V., Wang, Y., Hagan, D.-M., Scherer, S., Lynch, S. A., Lindsay, S., Custard, E., Belloni, E., Wilson, D. I., Wadey, R., Goodman, F., Orstavik, K. H., Monclair, T., Robson, S., Reardon, W., Burn, J., Scambler, P., Strachan, T.
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<strong>A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis.</strong>
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Urioste, M., Garcia-Andrade, M. C., Valle, L., Robledo, M., Gonzalez-Palacios, F., Mendez, R., Ferreiros, J., Nuno, J., Benitez, J.
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<strong>Malignant degeneration of presacral teratoma in the Currarino anomaly.</strong>
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Am. J. Med. Genet. 128A: 299-304, 2004.
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[PubMed: 15216552]
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[Full Text: https://doi.org/10.1002/ajmg.a.30028]
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<p class="mim-text-font">
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Wang, J., Spitz, L., Hayward, R., Kiely, E., Hall, C. M., O'Donoghue, D. P., Palmer, R., Goodman, F. R., Scambler, P. J., Winter, R. M., Reardon, W.
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<strong>Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families.</strong>
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Europ. J. Pediat. 158: 902-905, 1999.
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[PubMed: 10541945]
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<li>
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<p class="mim-text-font">
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Wang, R. Y., Jones, J. R., Chen, S., Rogers, R. C., Friez, M. J., Schwartz, C. E., Graham, J. M., Jr.
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<strong>A previously unreported mutation in a Currarino syndrome kindred.</strong>
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Am. J. Med. Genet. 140A: 1923-1930, 2006.
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[PubMed: 16906559]
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[Full Text: https://doi.org/10.1002/ajmg.a.31420]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Yates, V. D., Wilroy, R. S., Whitington, L., Simmons, J. C. H.
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<strong>Anterior sacral defects: an autosomal dominantly inherited condition.</strong>
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J. Pediat. 102: 239-242, 1983.
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[PubMed: 6822928]
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[Full Text: https://doi.org/10.1016/s0022-3476(83)80528-9]
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Cassandra L. Kniffin - updated : 9/4/2007<br>Cassandra L. Kniffin - updated : 5/17/2007<br>Marla J. F. O'Neill - updated : 10/25/2006<br>Kelly A. Przylepa - updated : 2/18/2005<br>Marla J. F. O'Neill - updated : 9/27/2004<br>Michael B. Petersen - updated : 2/8/2002<br>Michael J. Wright - updated : 8/7/2001<br>Armand Bottani - updated : 3/14/2000<br>Victor A. McKusick - updated : 2/4/2000<br>Victor A. McKusick - updated : 11/24/1998
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Victor A. McKusick : 6/2/1986
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