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<title>
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Entry
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- #616329 - MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13; MODY13
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- OMIM
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(MATURITY-ONSET DIABETES OF THE YOUNG, TYPE) OR (KCNJ11)" 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=8028&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/books/NBK500456/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=616329[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=552" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111110" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/616329" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111110" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div>
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<a id="title" class="mim-anchor"></a>
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<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> 552<br />
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<strong>DO:</strong> 0111110<br />
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">ICD+</a>
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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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616329
|
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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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MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13; MODY13
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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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<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>
|
|
<span class="mim-font">
|
|
MODY, TYPE 13
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
|
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<br />
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</div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<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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Gene/Locus <br /> MIM number
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<span class="mim-font">
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<a href="/geneMap/11/208?start=-3&limit=10&highlight=208">
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11p15.1
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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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Maturity-onset diabetes of the young, type 13
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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/616329"> 616329 </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 dominant">AD</abbr>
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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 class="mim-font">
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KCNJ11
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/600937"> 600937 </a>
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</span>
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</table>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/616329" 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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<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/616329" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/616329" 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 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 dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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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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- Normal BMI <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4229017&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4229017</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> 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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- Gestational diabetes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11687002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11687002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/O24.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O24.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085207&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085207</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009800</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009800</a>]</span><br /> -
|
|
Maturity onset diabetes <span class="mim-feature-ids hidden">[SNOMEDCT: <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/E11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011860&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011860</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005978" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005978</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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- Intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes (<a href="/entry/610582">610582</a>) to MODY (<a href="/entry/616329">616329</a>) to impaired fasting glucose or impaired glucose tolerance<br /> -
|
|
Treatment with sulfonylurea can be effective<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 potassium inwardly-rectifying channel, subfamily J, member 11 gene (KCNJ11, <a href="/entry/600937#0012">600937.0012</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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</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="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>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that maturity-onset diabetes of the young-13 (MODY13) is caused by heterozygous mutation in the KCNJ11 gene (<a href="/entry/600937">600937</a>) on chromosome 11p15.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of MODY, see <a href="/entry/606391">606391</a>.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<p><a href="#1" class="mim-tip-reference" title="Bonnefond, A., Philippe, J., Durand, E., Dechaume, A., Huyvaert, M., Montagne, L., Marre, M., Balkau, B., Fajardy, I., Vambergue, A., Vatin, V., Delplanque, J., Le Guilcher, D., De Graeve, F., Lecoeur, C., Sand, O., Vaxillaire, M., Froguel, P. <strong>Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.</strong> PLoS One 7: e37423, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22701567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22701567</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22701567[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/10.1371/journal.pone.0037423" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22701567">Bonnefond et al. (2012)</a> described a 4-generation French family with 12 members affected with MODY. Age at diagnosis ranged from 13 to 59 years of age. In addition, 1 member had impaired fasting glucose and another had impaired glucose tolerance. No member of the family had neonatal diabetes mellitus (NDM). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22701567" 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="Yorifuji, T., Nagashima, K., Kurokawa, K., Kawai, M., Oishi, M., Akazawa, Y., Hosokawa, M., Yamada, Y., Inagaki, N., Nakahata, T. <strong>The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus.</strong> J. Clin. Endocr. Metab. 90: 3174-3178, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15784703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15784703</a>] [<a href="https://doi.org/10.1210/jc.2005-0096" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15784703">Yorifuji et al. (2005)</a> described a 4-generation Japanese family with diabetes mellitus. Age at onset of the 4 affected individuals ranged from 3 years to 26 years. One individual had childhood-onset diabetes; 2 had adult-onset of type 2 diabetes; and one had transient neonatal diabetes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15784703" 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>Molecular Genetics</strong>
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<p>In affected members of a 4-generation Japanese family with diabetes, <a href="#2" class="mim-tip-reference" title="Yorifuji, T., Nagashima, K., Kurokawa, K., Kawai, M., Oishi, M., Akazawa, Y., Hosokawa, M., Yamada, Y., Inagaki, N., Nakahata, T. <strong>The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus.</strong> J. Clin. Endocr. Metab. 90: 3174-3178, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15784703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15784703</a>] [<a href="https://doi.org/10.1210/jc.2005-0096" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15784703">Yorifuji et al. (2005)</a> identified heterozygosity for a cys42-to-arg mutation in the KCNJ11 gene (C42R; <a href="/entry/600937#0012">600937.0012</a>). Two nonobese individuals had onset of type 2 diabetes in their twenties. Two of the 4 affected individuals maintained control of diabetes with sulfonylurea therapy alone. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15784703" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Bonnefond, A., Philippe, J., Durand, E., Dechaume, A., Huyvaert, M., Montagne, L., Marre, M., Balkau, B., Fajardy, I., Vambergue, A., Vatin, V., Delplanque, J., Le Guilcher, D., De Graeve, F., Lecoeur, C., Sand, O., Vaxillaire, M., Froguel, P. <strong>Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.</strong> PLoS One 7: e37423, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22701567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22701567</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22701567[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/10.1371/journal.pone.0037423" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22701567">Bonnefond et al. (2012)</a> performed whole-exome sequencing in 3 affected and 1 unaffected individuals from a family with MODY and confirmed all mutations by Sanger sequencing. Only 1 mutation (E227K; <a href="/entry/600937#0024">600937.0024</a>) in the KCNJ11 gene cosegregated with disease in the family (lod score of 3.68). No other KCNJ11 mutations were found in 25 other subjects with MODY of unknown etiology. Affected individuals were effectively treated with oral sulfonylureas, thus confirming the phenotype as MODY13. The family described by <a href="#1" class="mim-tip-reference" title="Bonnefond, A., Philippe, J., Durand, E., Dechaume, A., Huyvaert, M., Montagne, L., Marre, M., Balkau, B., Fajardy, I., Vambergue, A., Vatin, V., Delplanque, J., Le Guilcher, D., De Graeve, F., Lecoeur, C., Sand, O., Vaxillaire, M., Froguel, P. <strong>Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.</strong> PLoS One 7: e37423, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22701567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22701567</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22701567[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/10.1371/journal.pone.0037423" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22701567">Bonnefond et al. (2012)</a> had 3 generations that could be molecularly characterized; age at diagnosis of diabetes in affected individuals ranged from 13 years to 59 years. Five affected individuals had onset of diabetes at less than 25 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22701567" 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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Bonnefond, A., Philippe, J., Durand, E., Dechaume, A., Huyvaert, M., Montagne, L., Marre, M., Balkau, B., Fajardy, I., Vambergue, A., Vatin, V., Delplanque, J., Le Guilcher, D., De Graeve, F., Lecoeur, C., Sand, O., Vaxillaire, M., Froguel, P.
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<strong>Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.</strong>
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PLoS One 7: e37423, 2012. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22701567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22701567</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22701567[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=22701567" 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/10.1371/journal.pone.0037423" target="_blank">Full Text</a>]
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Yorifuji, T., Nagashima, K., Kurokawa, K., Kawai, M., Oishi, M., Akazawa, Y., Hosokawa, M., Yamada, Y., Inagaki, N., Nakahata, T.
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<strong>The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus.</strong>
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J. Clin. Endocr. Metab. 90: 3174-3178, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15784703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15784703</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15784703" 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/10.1210/jc.2005-0096" target="_blank">Full Text</a>]
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Ada Hamosh : 4/20/2015
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alopez : 04/20/2015
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alopez : 4/20/2015
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MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13; MODY13
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MODY, TYPE 13
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<strong>ORPHA:</strong> 552;
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<strong>DO:</strong> 0111110;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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11p15.1
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Maturity-onset diabetes of the young, type 13
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616329
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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KCNJ11
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600937
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<p>A number sign (#) is used with this entry because of evidence that maturity-onset diabetes of the young-13 (MODY13) is caused by heterozygous mutation in the KCNJ11 gene (600937) on chromosome 11p15.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391.</p>
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<strong>Clinical Features</strong>
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<p>Bonnefond et al. (2012) described a 4-generation French family with 12 members affected with MODY. Age at diagnosis ranged from 13 to 59 years of age. In addition, 1 member had impaired fasting glucose and another had impaired glucose tolerance. No member of the family had neonatal diabetes mellitus (NDM). </p><p>Yorifuji et al. (2005) described a 4-generation Japanese family with diabetes mellitus. Age at onset of the 4 affected individuals ranged from 3 years to 26 years. One individual had childhood-onset diabetes; 2 had adult-onset of type 2 diabetes; and one had transient neonatal diabetes. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of a 4-generation Japanese family with diabetes, Yorifuji et al. (2005) identified heterozygosity for a cys42-to-arg mutation in the KCNJ11 gene (C42R; 600937.0012). Two nonobese individuals had onset of type 2 diabetes in their twenties. Two of the 4 affected individuals maintained control of diabetes with sulfonylurea therapy alone. </p><p>Bonnefond et al. (2012) performed whole-exome sequencing in 3 affected and 1 unaffected individuals from a family with MODY and confirmed all mutations by Sanger sequencing. Only 1 mutation (E227K; 600937.0024) in the KCNJ11 gene cosegregated with disease in the family (lod score of 3.68). No other KCNJ11 mutations were found in 25 other subjects with MODY of unknown etiology. Affected individuals were effectively treated with oral sulfonylureas, thus confirming the phenotype as MODY13. The family described by Bonnefond et al. (2012) had 3 generations that could be molecularly characterized; age at diagnosis of diabetes in affected individuals ranged from 13 years to 59 years. Five affected individuals had onset of diabetes at less than 25 years of age. </p>
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<strong>REFERENCES</strong>
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Bonnefond, A., Philippe, J., Durand, E., Dechaume, A., Huyvaert, M., Montagne, L., Marre, M., Balkau, B., Fajardy, I., Vambergue, A., Vatin, V., Delplanque, J., Le Guilcher, D., De Graeve, F., Lecoeur, C., Sand, O., Vaxillaire, M., Froguel, P.
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<strong>Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.</strong>
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PLoS One 7: e37423, 2012. Note: Electronic Article.
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[PubMed: 22701567]
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[Full Text: https://doi.org/10.1371/journal.pone.0037423]
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Yorifuji, T., Nagashima, K., Kurokawa, K., Kawai, M., Oishi, M., Akazawa, Y., Hosokawa, M., Yamada, Y., Inagaki, N., Nakahata, T.
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<strong>The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus.</strong>
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J. Clin. Endocr. Metab. 90: 3174-3178, 2005.
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[PubMed: 15784703]
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[Full Text: https://doi.org/10.1210/jc.2005-0096]
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Creation Date:
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