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<title>
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Entry
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- #615710 - MITCHELL-RILEY SYNDROME; MTCHRS
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- OMIM
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<span class="h4">#615710</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/615710"><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="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div><a href="https://clinicaltrials.gov/search?cond=(MITCHELL-RILEY SYNDROME) OR (RFX6)" 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=20883&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=615710[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=293864" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<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>ORPHA:</strong> 293864<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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615710
|
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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MITCHELL-RILEY SYNDROME; MTCHRS
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</span>
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</h3>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</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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DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA
|
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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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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/6/807?start=-3&limit=10&highlight=807">
|
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6q22.1
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Mitchell-Riley 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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<a href="/entry/615710"> 615710 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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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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RFX6
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/612659"> 612659 </a>
|
|
</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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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/615710" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/615710" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/615710" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> GROWTH </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Other </em>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
|
- Intrauterine growth retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22033007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22033007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/764.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.90</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/764.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015934&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015934</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cholestasis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30144000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30144000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33688009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33688009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197446008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197446008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K83.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K83.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/576.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">576.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008370&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008370</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001396" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001396</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001396" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001396</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pancreas </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypoplastic or annular pancreas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2677249&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2677249</a>]</span><br /> -
|
|
Absence of insulin, glucagon, and somatostatin by pancreatic immunohistochemistry <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3810344&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3810344</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Biliary Tract </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Acholia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70396004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70396004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675627&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675627</a>, <a href="https://bioportal.bioontology.org/search?q=C0948198&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0948198</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011985" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011985</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011985" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011985</a>]</span><br /> -
|
|
Absent gallbladder <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302953002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302953002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86507001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86507001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/300341002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">300341002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q44.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q44.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266251&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266251</a>, <a href="https://bioportal.bioontology.org/search?q=C0577063&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0577063</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011467" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011467</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011467" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011467</a>]</span><br /> -
|
|
Biliary atresia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/77480004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">77480004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q44.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q44.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/751.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">751.61</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005411&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005411</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005912" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005912</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005912" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005912</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Duodenal atresia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51118003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51118003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266174&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266174</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002247" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002247</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002247" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002247</a>]</span><br /> -
|
|
Jejunal atresia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/360491009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">360491009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84296002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84296002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q41.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q41.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266172&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266172</a>, <a href="https://bioportal.bioontology.org/search?q=C0266175&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266175</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005235" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005235</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005235" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005235</a>]</span><br /> -
|
|
Intestinal malrotation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48641006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48641006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29980002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29980002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253789002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253789002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221210</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002566" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002566</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002566" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002566</a>]</span><br /> -
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Malabsorption <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32230006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32230006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197476001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197476001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K90.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K90.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/579.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">579.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/579" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">579</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024523&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024523</a>, <a href="https://bioportal.bioontology.org/search?q=C3714745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714745</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002024" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002024</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002024" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002024</a>]</span><br /> -
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Diarrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267060006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267060006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62315008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62315008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R19.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R19.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011991</a>, <a href="https://bioportal.bioontology.org/search?q=C2169706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2169706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span><br /> -
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Anteriorly placed anus (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838705&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838705</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001545</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001545</a>]</span><br />
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</span>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> ENDOCRINE FEATURES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Neonatal diabetes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49817004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49817004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/P70.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">P70.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/775.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">775.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158981&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158981</a>]</span><br /> -
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Diabetes, childhood-onset (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4229396&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4229396</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/73211009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">73211009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44054006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44054006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E08-E13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E08-E13</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/E11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E11</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">250</a>]</span><br />
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Hyperglycemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/444780001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">444780001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237598005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237598005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80394007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80394007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R73.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R73.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2919432&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2919432</a>, <a href="https://bioportal.bioontology.org/search?q=C0020456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020456</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003074" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003074</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003074" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003074</a>]</span><br /> -
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Low or undetectable insulin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3810452&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3810452</a>]</span><br /> -
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Low or undetectable C-peptide <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3810346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3810346</a>]</span><br /> -
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Hyperbilirubinemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14783006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14783006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26165005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26165005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020433&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020433</a>, <a href="https://bioportal.bioontology.org/search?q=C0311468&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0311468</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002904" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002904</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002904" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002904</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Frequently fatal within the first year of life<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the regulatory factor X, 6 gene (RFX6, <a href="/entry/612659#0001">612659.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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<div>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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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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</span>
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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 Mitchell-Riley syndrome (MTCHRS) is caused by homozygous or compound heterozygous mutation in the RFX6 gene (<a href="/entry/612659">612659</a>) on chromosome 6q22.</p>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Mitchell-Riley syndrome (MTCHRS) is characterized by neonatal diabetes, pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia. There is considerable phenotypic overlap between Mitchell-Riley syndrome and Martinez-Frias syndrome (<a href="/entry/601346">601346</a>), the latter being characterized by the features of the Mitchell-Riley syndrome except for neonatal diabetes, and including tracheoesophageal fistula in some patients (<a href="#10" class="mim-tip-reference" title="Smith, S. B., Qu, H.-Q., Taleb, N. Kishimoto, N. Y., Scheel, D. W., Lu, Y., Patch, A.-M., Grabs, R., Wang, J., Lynn, F. C., Miyatsuka, T., Mitchell, J., and 16 others. <strong>Rfx6 directs islet formation and insulin production in mice and humans.</strong> Nature 463: 775-780, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20148032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20148032</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20148032[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature08748" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20148032">Smith et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20148032" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<strong>Clinical Features</strong>
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<p><a href="#8" class="mim-tip-reference" title="Mitchell, J., Punthakee, Z., Lo, B., Bernard, C., Chong, K., Newman, C., Cartier, L., Desilets, V., Cutz, E., Hansen, I. L., Riley, P., Polychronakos, C. <strong>Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome.</strong> Diabetologia 47: 2160-2167, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15592663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15592663</a>] [<a href="https://doi.org/10.1007/s00125-004-1576-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15592663">Mitchell et al. (2004)</a> described 5 infants, including a brother and sister born of first-cousin Pakistani parents (family 1), a brother and sister born of nonconsanguineous Asian parents (family 2), and an unrelated girl conceived by in vitro fertilization with a donated egg, who presented with neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, and absent gallbladder. There were no dysmorphic features. Both pairs of sibs died in the first year of life despite aggressive medical management, but the unrelated girl had a milder form and was surviving free of insulin at 1 year of age, with a corrected duodenal web. Pancreatic immunohistochemistry revealed a few scattered chromogranin-A-positive cell clusters but complete absence of insulin, glucagon, and somatostatin. Exocrine histology was variable. <a href="#8" class="mim-tip-reference" title="Mitchell, J., Punthakee, Z., Lo, B., Bernard, C., Chong, K., Newman, C., Cartier, L., Desilets, V., Cutz, E., Hansen, I. L., Riley, P., Polychronakos, C. <strong>Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome.</strong> Diabetologia 47: 2160-2167, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15592663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15592663</a>] [<a href="https://doi.org/10.1007/s00125-004-1576-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15592663">Mitchell et al. (2004)</a> concluded that this combination of multiple congenital anomalies represented a distinct autosomal recessive syndrome involving a genetic abnormality that interferes with normal islet development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15592663" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Galan-Gomez, E., Sanchez, E. B., Arias-Castro, S., Cardesa-Garcia, J. J. <strong>Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: further evidence of the Martinez-Frias syndrome.</strong> Europ. J. Med. Genet. 50: 144-148, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17321227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17321227</a>] [<a href="https://doi.org/10.1016/j.ejmg.2006.12.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17321227">Galan-Gomez et al. (2007)</a> reported a girl with neonatal diabetes, acholia, and hyperbilirubinemia, born of consanguineous Spanish Gypsy parents. On laparotomy she was found to have type C duodenal atresia, hypoplastic pancreas, and intestinal malrotation; the gallbladder and extrahepatic biliary ducts were not observed, and technetium scintigraphy confirmed the absence of extrahepatic biliary ducts. She died at 60 days of age; the parents did not permit an autopsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17321227" 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="Chappell, L., Gorman, S., Campbell, F., Ellard, S., Rice, G., Dobbie, A., Crow, Y. <strong>A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis.</strong> Am. J. Med. Genet. 146A: 1713-1717, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18512226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18512226</a>] [<a href="https://doi.org/10.1002/ajmg.a.32304" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18512226">Chappell et al. (2008)</a> reported a Pakistani girl, born to first-cousin parents, who had neonatal diabetes, duodenal atresia, gallbladder agenesis, and an anteriorly placed anus. No pancreatic abnormality was found on abdominal ultrasound. In the first year of life, she underwent surgical repair of her intestinal anomalies, and at age 1 year her development was considered to be normal. Because their patient had neonatal diabetes without a demonstrable structural pancreatic abnormality, <a href="#2" class="mim-tip-reference" title="Chappell, L., Gorman, S., Campbell, F., Ellard, S., Rice, G., Dobbie, A., Crow, Y. <strong>A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis.</strong> Am. J. Med. Genet. 146A: 1713-1717, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18512226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18512226</a>] [<a href="https://doi.org/10.1002/ajmg.a.32304" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18512226">Chappell et al. (2008)</a> concluded that a deficit in pancreatic function is involved. The authors noted that <a href="#8" class="mim-tip-reference" title="Mitchell, J., Punthakee, Z., Lo, B., Bernard, C., Chong, K., Newman, C., Cartier, L., Desilets, V., Cutz, E., Hansen, I. L., Riley, P., Polychronakos, C. <strong>Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome.</strong> Diabetologia 47: 2160-2167, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15592663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15592663</a>] [<a href="https://doi.org/10.1007/s00125-004-1576-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15592663">Mitchell et al. (2004)</a> considered the phenotype of their cases to be distinct from that of the cases described by <a href="#6" class="mim-tip-reference" title="Martinez-Frias, M.-L., Frias, J. L., Galan, E., Domingo, R., Paisan, L., Blanco, M. <strong>Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency.</strong> Am. J. Med. Genet. 44: 352-355, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1488984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1488984</a>] [<a href="https://doi.org/10.1002/ajmg.1320440316" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1488984">Martinez-Frias et al. (1992)</a>, <a href="#1" class="mim-tip-reference" title="Anneren, G., Meurling, S., Lilja, H., Wallander, J., von Dobeln, U. <strong>Lethal autosomal recessive syndrome with intrauterine growth retardation, intra- and extrahepatic biliary atresia, and esophageal and duodenal atresia. (Letter)</strong> Am. J. Med. Genet. 78: 306-307, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9677074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9677074</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19980707)78:3<306::aid-ajmg22>3.0.co;2-i" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9677074">Anneren et al. (1998)</a>, and <a href="#4" class="mim-tip-reference" title="Gentile, M., Fiorente, P. <strong>Esophageal, duodenal, rectoanal and biliary atresia, intestinal malrotation, malformed/hypoplastic pancreas, and hypospadias: further evidence of a new distinct syndrome. (Letter)</strong> Am. J. Med. Genet. 87: 82-83, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10528254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10528254</a>]" pmid="10528254">Gentile and Fiorente (1999)</a> (see <a href="/entry/601346">601346</a>); however, <a href="#2" class="mim-tip-reference" title="Chappell, L., Gorman, S., Campbell, F., Ellard, S., Rice, G., Dobbie, A., Crow, Y. <strong>A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis.</strong> Am. J. Med. Genet. 146A: 1713-1717, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18512226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18512226</a>] [<a href="https://doi.org/10.1002/ajmg.a.32304" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18512226">Chappell et al. (2008)</a> reviewed all of those reports and suggested that they represent the same syndrome with 6 key features: neonatal diabetes mellitus, intestinal atresia, malrotation, biliary atresia, gallbladder hypoplasia, and absent or abnormal pancreas. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18512226+1488984+10528254+9677074+15592663" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Martinovici, D., Ransy, V., Eijnden, S. V., Ridremont, C., Pardou, A., Cassart, M., Avni, F., Donner, C., Lingier, P., Mathieu, A., Gulbis, B., De Brouckere, V., Cnop, M., Abramowicz, M., Desir, J. <strong>Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn.</strong> Europ. J. Med. Genet. 53: 25-28, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19887127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19887127</a>] [<a href="https://doi.org/10.1016/j.ejmg.2009.10.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19887127">Martinovici et al. (2010)</a> reported a male infant, born of first-cousin parents, who had severe intrauterine growth retardation (IUGR), congenital hemochromatosis, neonatal diabetes, and duodenal atresia. There were no dysmorphic features. Laparotomy on day 2 of life confirmed duodenal atresia with apple peel-type jejunal atresia and intestinal malrotation as well as agenesis of the gallbladder; cholangiography was suggestive of biliary atresia, and liver biopsy confirmed severe siderosis of the hepatocytes without parenchymal loss or fibrosis. At 2 months of age, cholangio-MRI showed hypoplasia of the pancreas. Upon repeat laparotomy, cholangiography demonstrated cystic dilation of the extrahepatic bile ducts, with permeability of both biliary and pancreatic ducts, precluding surgical correction. The infant died shortly thereafter; autopsy was declined. Family history was remarkable for many cases of diabetes mellitus, including the mother, suggestive of monogenic diabetes; the father had impaired fasting glucose. <a href="#7" class="mim-tip-reference" title="Martinovici, D., Ransy, V., Eijnden, S. V., Ridremont, C., Pardou, A., Cassart, M., Avni, F., Donner, C., Lingier, P., Mathieu, A., Gulbis, B., De Brouckere, V., Cnop, M., Abramowicz, M., Desir, J. <strong>Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn.</strong> Europ. J. Med. Genet. 53: 25-28, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19887127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19887127</a>] [<a href="https://doi.org/10.1016/j.ejmg.2009.10.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19887127">Martinovici et al. (2010)</a> noted that diabetes was reported in 1 of the consanguineous families with 2 affected children described by <a href="#8" class="mim-tip-reference" title="Mitchell, J., Punthakee, Z., Lo, B., Bernard, C., Chong, K., Newman, C., Cartier, L., Desilets, V., Cutz, E., Hansen, I. L., Riley, P., Polychronakos, C. <strong>Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome.</strong> Diabetologia 47: 2160-2167, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15592663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15592663</a>] [<a href="https://doi.org/10.1007/s00125-004-1576-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15592663">Mitchell et al. (2004)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19887127+15592663" 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="Smith, S. B., Qu, H.-Q., Taleb, N. Kishimoto, N. Y., Scheel, D. W., Lu, Y., Patch, A.-M., Grabs, R., Wang, J., Lynn, F. C., Miyatsuka, T., Mitchell, J., and 16 others. <strong>Rfx6 directs islet formation and insulin production in mice and humans.</strong> Nature 463: 775-780, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20148032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20148032</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20148032[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature08748" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20148032">Smith et al. (2010)</a> reported 2 unrelated patients with IUGR and duodenal atresia: one was a male infant, born to nonconsanguineous French parents, in whom neonatal diabetes was diagnosed at day 2. His course was complicated by refractory ascites, sepsis, and gastrointestinal hemorrhage, from which he died at 2.5 months of age. Family history was relevant for gestational diabetes in the mother and type I diabetes in the father. The other patient was a female infant, born to nonconsanguineous Irish parents, who was diagnosed with neonatal diabetes requiring insulin treatment following surgery to repair her duodenal atresia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20148032" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Sansbury, F. H., Kirel, B., Caswell, R., Allen, H. L., Flanagan, S. E., Hattersley, A. T., Ellard, S., Shaw-Smith, C. J. <strong>Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.</strong> Europ. J. Hum. Genet. 23: 1744-1748, 2015. Note: Erratum: Europ. J. Hum. Genet. 23: 1750 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26264437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26264437</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26264437[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2015.161" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26264437">Sansbury et al. (2015)</a> studied a Turkish family in which 2 double first cousins had intestinal atresia consistent with a diagnosis of Mitchell-Riley syndrome, but did not develop diabetes until the ages of 3 years and 6 years. The first patient was a 9-year-old girl who was born at 32 weeks' gestation with duodenal atresia, jejunal web, and Meckel diverticulum. At age 2 years, hyperglycemia was noted but no further investigation or treatment was pursued. She presented at 3 years of age with diabetic ketoacidosis, which was then treated with daily insulin injections. Further evaluation at 5 years of age revealed absent gallbladder. She had an identical twin who was diagnosed with duodenal atresia but died of complication of prematurity and surgery at age 1 month. The second patient was her 9-year-old male cousin who was born at 34 weeks' gestation with duodenal atresia and mid-gut rotation. He was noted to have asymptomatic fasting hyperglycemia at age 5 years, at which time no treatment was initiated; he was diagnosed with diabetes after presenting with hyperglycemia at age 6 years, and treated with daily insulin. He also had chronic iron deficiency anemia of unknown etiology; he had no structural abnormality of the hepatobiliary tract, and liver function tests were always within normal limits. Family history included 4 relatives with adult-onset diabetes; all 4 were nonobese and treated with oral hypoglycemic agents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26264437" 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="Smith, S. B., Qu, H.-Q., Taleb, N. Kishimoto, N. Y., Scheel, D. W., Lu, Y., Patch, A.-M., Grabs, R., Wang, J., Lynn, F. C., Miyatsuka, T., Mitchell, J., and 16 others. <strong>Rfx6 directs islet formation and insulin production in mice and humans.</strong> Nature 463: 775-780, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20148032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20148032</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20148032[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature08748" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20148032">Smith et al. (2010)</a> performed high-resolution homozygosity mapping in the proband with neonatal diabetes, duodenal and jejunal atresia, annular pancreas, and gallbladder agenesis from Pakistani 'family 1,' previously reported by <a href="#8" class="mim-tip-reference" title="Mitchell, J., Punthakee, Z., Lo, B., Bernard, C., Chong, K., Newman, C., Cartier, L., Desilets, V., Cutz, E., Hansen, I. L., Riley, P., Polychronakos, C. <strong>Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome.</strong> Diabetologia 47: 2160-2167, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15592663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15592663</a>] [<a href="https://doi.org/10.1007/s00125-004-1576-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15592663">Mitchell et al. (2004)</a>, and a Pakistani girl with neonatal diabetes, duodenal atresia, gallbladder agenesis, and an anteriorly placed anus, previously reported by <a href="#2" class="mim-tip-reference" title="Chappell, L., Gorman, S., Campbell, F., Ellard, S., Rice, G., Dobbie, A., Crow, Y. <strong>A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis.</strong> Am. J. Med. Genet. 146A: 1713-1717, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18512226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18512226</a>] [<a href="https://doi.org/10.1002/ajmg.a.32304" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18512226">Chappell et al. (2008)</a>. <a href="#10" class="mim-tip-reference" title="Smith, S. B., Qu, H.-Q., Taleb, N. Kishimoto, N. Y., Scheel, D. W., Lu, Y., Patch, A.-M., Grabs, R., Wang, J., Lynn, F. C., Miyatsuka, T., Mitchell, J., and 16 others. <strong>Rfx6 directs islet formation and insulin production in mice and humans.</strong> Nature 463: 775-780, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20148032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20148032</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20148032[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature08748" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20148032">Smith et al. (2010)</a> identified 3 homozygosity-by-descent regions that were common in the 2 probands, totaling 24 Mb. Among the genes in this region, only RFX6 (<a href="/entry/612659">612659</a>) on chromosome 6q21-q22 had pancreas-enriched expression in the TiGER database (<a href="#5" class="mim-tip-reference" title="Liu, X., Yu, X., Zack, D. J., Zhu, H., Qian, J. <strong>TiGER: a database for tissue-specific gene expression and regulation.</strong> BMC Bioinformatics 9: 271, 2008. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18541026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18541026</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18541026[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/10.1186/1471-2105-9-271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18541026">Liu et al., 2008</a>) and also showed increased expression in human pancreas concordant with the appearance of endocrine cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20148032+18512226+18541026+15592663" 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>Mitchell-Riley syndrome is an autosomal recessive disorder (<a href="#10" class="mim-tip-reference" title="Smith, S. B., Qu, H.-Q., Taleb, N. Kishimoto, N. Y., Scheel, D. W., Lu, Y., Patch, A.-M., Grabs, R., Wang, J., Lynn, F. C., Miyatsuka, T., Mitchell, J., and 16 others. <strong>Rfx6 directs islet formation and insulin production in mice and humans.</strong> Nature 463: 775-780, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20148032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20148032</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20148032[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature08748" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20148032">Smith et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20148032" 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="Smith, S. B., Qu, H.-Q., Taleb, N. Kishimoto, N. Y., Scheel, D. W., Lu, Y., Patch, A.-M., Grabs, R., Wang, J., Lynn, F. C., Miyatsuka, T., Mitchell, J., and 16 others. <strong>Rfx6 directs islet formation and insulin production in mice and humans.</strong> Nature 463: 775-780, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20148032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20148032</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20148032[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature08748" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20148032">Smith et al. (2010)</a> analyzed the candidate gene RFX6 and identified homozygosity or compound heterozygosity for RFX6 mutations in 5 of 6 probands with neonatal diabetes, hypoplastic or annular pancreas, intestinal atresia and/or malrotation, and gallbladder hypoplasia or agenesis, including splice site mutations in 2 patients previously reported by <a href="#8" class="mim-tip-reference" title="Mitchell, J., Punthakee, Z., Lo, B., Bernard, C., Chong, K., Newman, C., Cartier, L., Desilets, V., Cutz, E., Hansen, I. L., Riley, P., Polychronakos, C. <strong>Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome.</strong> Diabetologia 47: 2160-2167, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15592663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15592663</a>] [<a href="https://doi.org/10.1007/s00125-004-1576-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15592663">Mitchell et al. (2004)</a> (<a href="/entry/612659#0001">612659.0001</a>-<a href="/entry/612659#0003">612659.0003</a>, respectively) and missense mutations in the 2 patients previously reported by <a href="#2" class="mim-tip-reference" title="Chappell, L., Gorman, S., Campbell, F., Ellard, S., Rice, G., Dobbie, A., Crow, Y. <strong>A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis.</strong> Am. J. Med. Genet. 146A: 1713-1717, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18512226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18512226</a>] [<a href="https://doi.org/10.1002/ajmg.a.32304" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18512226">Chappell et al. (2008)</a> (S271P; <a href="/entry/612659#0004">612659.0004</a>) and <a href="#7" class="mim-tip-reference" title="Martinovici, D., Ransy, V., Eijnden, S. V., Ridremont, C., Pardou, A., Cassart, M., Avni, F., Donner, C., Lingier, P., Mathieu, A., Gulbis, B., De Brouckere, V., Cnop, M., Abramowicz, M., Desir, J. <strong>Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn.</strong> Europ. J. Med. Genet. 53: 25-28, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19887127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19887127</a>] [<a href="https://doi.org/10.1016/j.ejmg.2009.10.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19887127">Martinovici et al. (2010)</a> (R181Q; <a href="/entry/612659#0005">612659.0005</a>), respectively, as well as an out-of-frame deletion in a new proband (<a href="/entry/612659#0006">612659.0006</a>). No DNA was available from a sixth proband with neonatal diabetes and duodenal atresia, but analysis of the nonconsanguineous Irish parents revealed no mutation; similarly, no mutation was detected in the parents of the patient with Martinez-Frias syndrome (<a href="/entry/601346">601346</a>) previously described by <a href="#4" class="mim-tip-reference" title="Gentile, M., Fiorente, P. <strong>Esophageal, duodenal, rectoanal and biliary atresia, intestinal malrotation, malformed/hypoplastic pancreas, and hypospadias: further evidence of a new distinct syndrome. (Letter)</strong> Am. J. Med. Genet. 87: 82-83, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10528254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10528254</a>]" pmid="10528254">Gentile and Fiorente (1999)</a>. Noting that some Martinez-Frias syndrome patients were reported to have esophageal atresia and hypospadias and none had neonatal diabetes, <a href="#10" class="mim-tip-reference" title="Smith, S. B., Qu, H.-Q., Taleb, N. Kishimoto, N. Y., Scheel, D. W., Lu, Y., Patch, A.-M., Grabs, R., Wang, J., Lynn, F. C., Miyatsuka, T., Mitchell, J., and 16 others. <strong>Rfx6 directs islet formation and insulin production in mice and humans.</strong> Nature 463: 775-780, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20148032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20148032</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20148032[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature08748" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20148032">Smith et al. (2010)</a> proposed that the apparently distinct phenotype of RFX6 mutation-positive patients be designated 'Mitchell-Riley syndrome.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18512226+10528254+19887127+20148032+15592663" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 Turkish double first cousins, who had features consistent with Mitchell-Riley syndrome except for childhood-onset rather than neonatal diabetes, <a href="#9" class="mim-tip-reference" title="Sansbury, F. H., Kirel, B., Caswell, R., Allen, H. L., Flanagan, S. E., Hattersley, A. T., Ellard, S., Shaw-Smith, C. J. <strong>Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.</strong> Europ. J. Hum. Genet. 23: 1744-1748, 2015. Note: Erratum: Europ. J. Hum. Genet. 23: 1750 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26264437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26264437</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26264437[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2015.161" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26264437">Sansbury et al. (2015)</a> identified compound heterozygosity for 2 nonsense mutations in the RFX6 gene (R726X, <a href="/entry/612659#0007">612659.0007</a>; R866X, <a href="/entry/612659#0008">612659.0008</a>). The parents were each heterozygous for 1 of the mutations, each of which had been inherited from the respective grandmother. Noting that the 2 affected cousins exhibited a relatively milder phenotype than previously reported patients, including later onset of diabetes, no liver pathology apart from absent gallbladder in 1 patient, and a greater age of survival, <a href="#9" class="mim-tip-reference" title="Sansbury, F. H., Kirel, B., Caswell, R., Allen, H. L., Flanagan, S. E., Hattersley, A. T., Ellard, S., Shaw-Smith, C. J. <strong>Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.</strong> Europ. J. Hum. Genet. 23: 1744-1748, 2015. Note: Erratum: Europ. J. Hum. Genet. 23: 1750 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26264437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26264437</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26264437[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2015.161" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26264437">Sansbury et al. (2015)</a> suggested that their mutations might result in incomplete inactivation of RFX6. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26264437" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Exclusion Studies</em></strong></p><p>
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<a href="#8" class="mim-tip-reference" title="Mitchell, J., Punthakee, Z., Lo, B., Bernard, C., Chong, K., Newman, C., Cartier, L., Desilets, V., Cutz, E., Hansen, I. L., Riley, P., Polychronakos, C. <strong>Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome.</strong> Diabetologia 47: 2160-2167, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15592663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15592663</a>] [<a href="https://doi.org/10.1007/s00125-004-1576-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15592663">Mitchell et al. (2004)</a> performed genetic analysis of a Pakistani girl, born of consanguineous parents ('family 1'), who had neonatal diabetes, distal duodenal atresia and type IIIA jejunal atresia, annular pancreas, and absent gallbladder, but found no duplication or uniparental isodisomy of PLAGL1 (<a href="/entry/603044">603044</a>) on chromosome 6q24, no contiguous gene deletion involving the glucokinase gene (GCK; <a href="/entry/138079">138079</a>), and no mutation in the coding sequences or splice sites of IPF1 (<a href="/entry/600733">600733</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15592663" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Pakistani girl, born of consanguineous parents, who had neonatal diabetes, duodenal atresia, absent gallbladder, and an anteriorly placed anus, <a href="#2" class="mim-tip-reference" title="Chappell, L., Gorman, S., Campbell, F., Ellard, S., Rice, G., Dobbie, A., Crow, Y. <strong>A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis.</strong> Am. J. Med. Genet. 146A: 1713-1717, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18512226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18512226</a>] [<a href="https://doi.org/10.1002/ajmg.a.32304" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18512226">Chappell et al. (2008)</a> excluded methylation defects, duplication of 6q24, and parental isodisomy of chromosome 6. Sequencing of 7 genes with a recognized role in monogenic forms of diabetes as well as a novel candidate gene, HNF6 (<a href="/entry/604164">604164</a>), known to be involved in hepatobiliary and pancreatic development, did not reveal any mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18512226" 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>Lethal autosomal recessive syndrome with intrauterine growth retardation, intra- and extrahepatic biliary atresia, and esophageal and duodenal atresia. (Letter)</strong>
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19980707)78:3<306::aid-ajmg22>3.0.co;2-i" target="_blank">Full Text</a>]
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<strong>A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis.</strong>
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Am. J. Med. Genet. 146A: 1713-1717, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18512226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18512226</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18512226" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Galan-Gomez, E., Sanchez, E. B., Arias-Castro, S., Cardesa-Garcia, J. J.
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<strong>Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: further evidence of the Martinez-Frias syndrome.</strong>
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Europ. J. Med. Genet. 50: 144-148, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17321227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17321227</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17321227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Am. J. Med. Genet. 87: 82-83, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10528254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10528254</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10528254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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BMC Bioinformatics 9: 271, 2008. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18541026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18541026</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18541026[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18541026" 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/10.1186/1471-2105-9-271" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Martinez-Frias1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Martinez-Frias, M.-L., Frias, J. L., Galan, E., Domingo, R., Paisan, L., Blanco, M.
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<strong>Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency.</strong>
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Am. J. Med. Genet. 44: 352-355, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1488984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1488984</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1488984" 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.1320440316" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Martinovici2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Martinovici, D., Ransy, V., Eijnden, S. V., Ridremont, C., Pardou, A., Cassart, M., Avni, F., Donner, C., Lingier, P., Mathieu, A., Gulbis, B., De Brouckere, V., Cnop, M., Abramowicz, M., Desir, J.
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<strong>Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn.</strong>
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Europ. J. Med. Genet. 53: 25-28, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19887127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19887127</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19887127" 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/j.ejmg.2009.10.004" target="_blank">Full Text</a>]
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<a id="Mitchell2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mitchell, J., Punthakee, Z., Lo, B., Bernard, C., Chong, K., Newman, C., Cartier, L., Desilets, V., Cutz, E., Hansen, I. L., Riley, P., Polychronakos, C.
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<strong>Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome.</strong>
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Diabetologia 47: 2160-2167, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15592663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15592663</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15592663" 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/s00125-004-1576-3" target="_blank">Full Text</a>]
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<a id="Sansbury2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sansbury, F. H., Kirel, B., Caswell, R., Allen, H. L., Flanagan, S. E., Hattersley, A. T., Ellard, S., Shaw-Smith, C. J.
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<strong>Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.</strong>
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Europ. J. Hum. Genet. 23: 1744-1748, 2015. Note: Erratum: Europ. J. Hum. Genet. 23: 1750 only, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26264437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26264437</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26264437[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26264437" 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/ejhg.2015.161" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Smith2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Smith, S. B., Qu, H.-Q., Taleb, N. Kishimoto, N. Y., Scheel, D. W., Lu, Y., Patch, A.-M., Grabs, R., Wang, J., Lynn, F. C., Miyatsuka, T., Mitchell, J., and 16 others.
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<strong>Rfx6 directs islet formation and insulin production in mice and humans.</strong>
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Nature 463: 775-780, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20148032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20148032</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20148032[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20148032" 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/nature08748" target="_blank">Full Text</a>]
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Contributors:
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 03/07/2016
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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Creation Date:
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Marla J. F. O'Neill : 4/9/2014
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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carol : 11/22/2024
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alopez : 11/21/2024<br>carol : 01/09/2020<br>carol : 03/07/2016<br>carol : 4/10/2014<br>carol : 4/10/2014<br>carol : 4/9/2014<br>carol : 4/9/2014
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<strong>#</strong> 615710
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MITCHELL-RILEY SYNDROME; MTCHRS
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<em>Alternative titles; symbols</em>
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DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA
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<strong>ORPHA:</strong> 293864;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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6q22.1
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<span class="mim-font">
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Mitchell-Riley syndrome
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<span class="mim-font">
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615710
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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RFX6
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<span class="mim-font">
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612659
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<p>A number sign (#) is used with this entry because of evidence that Mitchell-Riley syndrome (MTCHRS) is caused by homozygous or compound heterozygous mutation in the RFX6 gene (612659) on chromosome 6q22.</p>
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<strong>Description</strong>
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<p>Mitchell-Riley syndrome (MTCHRS) is characterized by neonatal diabetes, pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia. There is considerable phenotypic overlap between Mitchell-Riley syndrome and Martinez-Frias syndrome (601346), the latter being characterized by the features of the Mitchell-Riley syndrome except for neonatal diabetes, and including tracheoesophageal fistula in some patients (Smith et al., 2010). </p>
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<p>Mitchell et al. (2004) described 5 infants, including a brother and sister born of first-cousin Pakistani parents (family 1), a brother and sister born of nonconsanguineous Asian parents (family 2), and an unrelated girl conceived by in vitro fertilization with a donated egg, who presented with neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, and absent gallbladder. There were no dysmorphic features. Both pairs of sibs died in the first year of life despite aggressive medical management, but the unrelated girl had a milder form and was surviving free of insulin at 1 year of age, with a corrected duodenal web. Pancreatic immunohistochemistry revealed a few scattered chromogranin-A-positive cell clusters but complete absence of insulin, glucagon, and somatostatin. Exocrine histology was variable. Mitchell et al. (2004) concluded that this combination of multiple congenital anomalies represented a distinct autosomal recessive syndrome involving a genetic abnormality that interferes with normal islet development. </p><p>Galan-Gomez et al. (2007) reported a girl with neonatal diabetes, acholia, and hyperbilirubinemia, born of consanguineous Spanish Gypsy parents. On laparotomy she was found to have type C duodenal atresia, hypoplastic pancreas, and intestinal malrotation; the gallbladder and extrahepatic biliary ducts were not observed, and technetium scintigraphy confirmed the absence of extrahepatic biliary ducts. She died at 60 days of age; the parents did not permit an autopsy. </p><p>Chappell et al. (2008) reported a Pakistani girl, born to first-cousin parents, who had neonatal diabetes, duodenal atresia, gallbladder agenesis, and an anteriorly placed anus. No pancreatic abnormality was found on abdominal ultrasound. In the first year of life, she underwent surgical repair of her intestinal anomalies, and at age 1 year her development was considered to be normal. Because their patient had neonatal diabetes without a demonstrable structural pancreatic abnormality, Chappell et al. (2008) concluded that a deficit in pancreatic function is involved. The authors noted that Mitchell et al. (2004) considered the phenotype of their cases to be distinct from that of the cases described by Martinez-Frias et al. (1992), Anneren et al. (1998), and Gentile and Fiorente (1999) (see 601346); however, Chappell et al. (2008) reviewed all of those reports and suggested that they represent the same syndrome with 6 key features: neonatal diabetes mellitus, intestinal atresia, malrotation, biliary atresia, gallbladder hypoplasia, and absent or abnormal pancreas. </p><p>Martinovici et al. (2010) reported a male infant, born of first-cousin parents, who had severe intrauterine growth retardation (IUGR), congenital hemochromatosis, neonatal diabetes, and duodenal atresia. There were no dysmorphic features. Laparotomy on day 2 of life confirmed duodenal atresia with apple peel-type jejunal atresia and intestinal malrotation as well as agenesis of the gallbladder; cholangiography was suggestive of biliary atresia, and liver biopsy confirmed severe siderosis of the hepatocytes without parenchymal loss or fibrosis. At 2 months of age, cholangio-MRI showed hypoplasia of the pancreas. Upon repeat laparotomy, cholangiography demonstrated cystic dilation of the extrahepatic bile ducts, with permeability of both biliary and pancreatic ducts, precluding surgical correction. The infant died shortly thereafter; autopsy was declined. Family history was remarkable for many cases of diabetes mellitus, including the mother, suggestive of monogenic diabetes; the father had impaired fasting glucose. Martinovici et al. (2010) noted that diabetes was reported in 1 of the consanguineous families with 2 affected children described by Mitchell et al. (2004). </p><p>Smith et al. (2010) reported 2 unrelated patients with IUGR and duodenal atresia: one was a male infant, born to nonconsanguineous French parents, in whom neonatal diabetes was diagnosed at day 2. His course was complicated by refractory ascites, sepsis, and gastrointestinal hemorrhage, from which he died at 2.5 months of age. Family history was relevant for gestational diabetes in the mother and type I diabetes in the father. The other patient was a female infant, born to nonconsanguineous Irish parents, who was diagnosed with neonatal diabetes requiring insulin treatment following surgery to repair her duodenal atresia. </p><p>Sansbury et al. (2015) studied a Turkish family in which 2 double first cousins had intestinal atresia consistent with a diagnosis of Mitchell-Riley syndrome, but did not develop diabetes until the ages of 3 years and 6 years. The first patient was a 9-year-old girl who was born at 32 weeks' gestation with duodenal atresia, jejunal web, and Meckel diverticulum. At age 2 years, hyperglycemia was noted but no further investigation or treatment was pursued. She presented at 3 years of age with diabetic ketoacidosis, which was then treated with daily insulin injections. Further evaluation at 5 years of age revealed absent gallbladder. She had an identical twin who was diagnosed with duodenal atresia but died of complication of prematurity and surgery at age 1 month. The second patient was her 9-year-old male cousin who was born at 34 weeks' gestation with duodenal atresia and mid-gut rotation. He was noted to have asymptomatic fasting hyperglycemia at age 5 years, at which time no treatment was initiated; he was diagnosed with diabetes after presenting with hyperglycemia at age 6 years, and treated with daily insulin. He also had chronic iron deficiency anemia of unknown etiology; he had no structural abnormality of the hepatobiliary tract, and liver function tests were always within normal limits. Family history included 4 relatives with adult-onset diabetes; all 4 were nonobese and treated with oral hypoglycemic agents. </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</div>
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<span class="mim-text-font">
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<p>Smith et al. (2010) performed high-resolution homozygosity mapping in the proband with neonatal diabetes, duodenal and jejunal atresia, annular pancreas, and gallbladder agenesis from Pakistani 'family 1,' previously reported by Mitchell et al. (2004), and a Pakistani girl with neonatal diabetes, duodenal atresia, gallbladder agenesis, and an anteriorly placed anus, previously reported by Chappell et al. (2008). Smith et al. (2010) identified 3 homozygosity-by-descent regions that were common in the 2 probands, totaling 24 Mb. Among the genes in this region, only RFX6 (612659) on chromosome 6q21-q22 had pancreas-enriched expression in the TiGER database (Liu et al., 2008) and also showed increased expression in human pancreas concordant with the appearance of endocrine cells. </p>
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<strong>Inheritance</strong>
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<p>Mitchell-Riley syndrome is an autosomal recessive disorder (Smith et al., 2010). </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>Smith et al. (2010) analyzed the candidate gene RFX6 and identified homozygosity or compound heterozygosity for RFX6 mutations in 5 of 6 probands with neonatal diabetes, hypoplastic or annular pancreas, intestinal atresia and/or malrotation, and gallbladder hypoplasia or agenesis, including splice site mutations in 2 patients previously reported by Mitchell et al. (2004) (612659.0001-612659.0003, respectively) and missense mutations in the 2 patients previously reported by Chappell et al. (2008) (S271P; 612659.0004) and Martinovici et al. (2010) (R181Q; 612659.0005), respectively, as well as an out-of-frame deletion in a new proband (612659.0006). No DNA was available from a sixth proband with neonatal diabetes and duodenal atresia, but analysis of the nonconsanguineous Irish parents revealed no mutation; similarly, no mutation was detected in the parents of the patient with Martinez-Frias syndrome (601346) previously described by Gentile and Fiorente (1999). Noting that some Martinez-Frias syndrome patients were reported to have esophageal atresia and hypospadias and none had neonatal diabetes, Smith et al. (2010) proposed that the apparently distinct phenotype of RFX6 mutation-positive patients be designated 'Mitchell-Riley syndrome.' </p><p>In 2 Turkish double first cousins, who had features consistent with Mitchell-Riley syndrome except for childhood-onset rather than neonatal diabetes, Sansbury et al. (2015) identified compound heterozygosity for 2 nonsense mutations in the RFX6 gene (R726X, 612659.0007; R866X, 612659.0008). The parents were each heterozygous for 1 of the mutations, each of which had been inherited from the respective grandmother. Noting that the 2 affected cousins exhibited a relatively milder phenotype than previously reported patients, including later onset of diabetes, no liver pathology apart from absent gallbladder in 1 patient, and a greater age of survival, Sansbury et al. (2015) suggested that their mutations might result in incomplete inactivation of RFX6. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
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Mitchell et al. (2004) performed genetic analysis of a Pakistani girl, born of consanguineous parents ('family 1'), who had neonatal diabetes, distal duodenal atresia and type IIIA jejunal atresia, annular pancreas, and absent gallbladder, but found no duplication or uniparental isodisomy of PLAGL1 (603044) on chromosome 6q24, no contiguous gene deletion involving the glucokinase gene (GCK; 138079), and no mutation in the coding sequences or splice sites of IPF1 (600733). </p><p>In a Pakistani girl, born of consanguineous parents, who had neonatal diabetes, duodenal atresia, absent gallbladder, and an anteriorly placed anus, Chappell et al. (2008) excluded methylation defects, duplication of 6q24, and parental isodisomy of chromosome 6. Sequencing of 7 genes with a recognized role in monogenic forms of diabetes as well as a novel candidate gene, HNF6 (604164), known to be involved in hepatobiliary and pancreatic development, did not reveal any mutations. </p>
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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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<ol>
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<p class="mim-text-font">
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Anneren, G., Meurling, S., Lilja, H., Wallander, J., von Dobeln, U.
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<strong>Lethal autosomal recessive syndrome with intrauterine growth retardation, intra- and extrahepatic biliary atresia, and esophageal and duodenal atresia. (Letter)</strong>
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Am. J. Med. Genet. 78: 306-307, 1998.
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[PubMed: 9677074]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(19980707)78:3<306::aid-ajmg22>3.0.co;2-i]
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<p class="mim-text-font">
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Chappell, L., Gorman, S., Campbell, F., Ellard, S., Rice, G., Dobbie, A., Crow, Y.
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<strong>A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis.</strong>
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Am. J. Med. Genet. 146A: 1713-1717, 2008.
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[PubMed: 18512226]
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[Full Text: https://doi.org/10.1002/ajmg.a.32304]
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Galan-Gomez, E., Sanchez, E. B., Arias-Castro, S., Cardesa-Garcia, J. J.
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<strong>Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: further evidence of the Martinez-Frias syndrome.</strong>
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Europ. J. Med. Genet. 50: 144-148, 2007.
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[PubMed: 17321227]
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[Full Text: https://doi.org/10.1016/j.ejmg.2006.12.001]
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<p class="mim-text-font">
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Gentile, M., Fiorente, P.
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<strong>Esophageal, duodenal, rectoanal and biliary atresia, intestinal malrotation, malformed/hypoplastic pancreas, and hypospadias: further evidence of a new distinct syndrome. (Letter)</strong>
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Am. J. Med. Genet. 87: 82-83, 1999.
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[PubMed: 10528254]
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</p>
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</li>
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<p class="mim-text-font">
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Liu, X., Yu, X., Zack, D. J., Zhu, H., Qian, J.
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<strong>TiGER: a database for tissue-specific gene expression and regulation.</strong>
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BMC Bioinformatics 9: 271, 2008. Note: Electronic Article.
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[PubMed: 18541026]
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[Full Text: https://doi.org/10.1186/1471-2105-9-271]
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</p>
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<p class="mim-text-font">
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Martinez-Frias, M.-L., Frias, J. L., Galan, E., Domingo, R., Paisan, L., Blanco, M.
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<strong>Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency.</strong>
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Am. J. Med. Genet. 44: 352-355, 1992.
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[PubMed: 1488984]
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[Full Text: https://doi.org/10.1002/ajmg.1320440316]
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<li>
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Martinovici, D., Ransy, V., Eijnden, S. V., Ridremont, C., Pardou, A., Cassart, M., Avni, F., Donner, C., Lingier, P., Mathieu, A., Gulbis, B., De Brouckere, V., Cnop, M., Abramowicz, M., Desir, J.
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<strong>Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn.</strong>
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Europ. J. Med. Genet. 53: 25-28, 2010.
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[PubMed: 19887127]
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[Full Text: https://doi.org/10.1016/j.ejmg.2009.10.004]
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<li>
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Mitchell, J., Punthakee, Z., Lo, B., Bernard, C., Chong, K., Newman, C., Cartier, L., Desilets, V., Cutz, E., Hansen, I. L., Riley, P., Polychronakos, C.
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<strong>Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome.</strong>
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Diabetologia 47: 2160-2167, 2004.
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[PubMed: 15592663]
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[Full Text: https://doi.org/10.1007/s00125-004-1576-3]
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Sansbury, F. H., Kirel, B., Caswell, R., Allen, H. L., Flanagan, S. E., Hattersley, A. T., Ellard, S., Shaw-Smith, C. J.
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<strong>Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.</strong>
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Europ. J. Hum. Genet. 23: 1744-1748, 2015. Note: Erratum: Europ. J. Hum. Genet. 23: 1750 only, 2015.
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[PubMed: 26264437]
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[Full Text: https://doi.org/10.1038/ejhg.2015.161]
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Smith, S. B., Qu, H.-Q., Taleb, N. Kishimoto, N. Y., Scheel, D. W., Lu, Y., Patch, A.-M., Grabs, R., Wang, J., Lynn, F. C., Miyatsuka, T., Mitchell, J., and 16 others.
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<strong>Rfx6 directs islet formation and insulin production in mice and humans.</strong>
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Nature 463: 775-780, 2010.
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[PubMed: 20148032]
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[Full Text: https://doi.org/10.1038/nature08748]
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Marla J. F. O'Neill - updated : 03/07/2016
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