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<title>
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Entry
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- 600089 - PANCREATIC BETA CELL AGENESIS WITH NEONATAL DIABETES MELLITUS
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- OMIM
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<span class="h4">600089</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="/clinicalSynopsis/600089"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=7962" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+7962" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/7962" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=PANCREATIC BETA CELL AGENESIS WITH NEONATAL DIABETES MELLITUS" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/5550" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<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 class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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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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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Other, mainly phenotypes with suspected mendelian basis">
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600089
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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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|
|
PANCREATIC BETA CELL AGENESIS WITH NEONATAL DIABETES MELLITUS
|
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</span>
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</h3>
|
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
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Cytogenetic location: <a href="/geneMap/6/266?start=-3&limit=10&highlight=266">6p21.3</a>
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|
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:30500001-36600000&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">6:30,500,001-36,600,000</a> </span>
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</em>
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</strong>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
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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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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/6/266?start=-3&limit=10&highlight=266">
|
|
6p21.3
|
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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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?Diabetes mellitus, insulin-dependent, neonatal
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<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
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<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
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</span>
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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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|
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<a href="/entry/600089"> 600089 </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="2 - The disorder was placed on the map by statistical methods">2</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/600089" 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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- Congenital absence of pancreatic islet insulin-producing beta cells<br />
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<strong> Endocrine </strong>
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- Neonatal insulin-dependent diabetes mellitus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000857" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000857</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000857" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000857</a>]</span><br />
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<strong> Inheritance </strong>
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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 class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p><a href="#2" class="mim-tip-reference" title="Blum, D., Dorchy, H., Mouraux, T., Vamos, E., Mardens, Y., Kumps, A., De Prez, C., Heimann, P., Fowler, B., Baumgartner, R., Bouwens, L., Van Gompel, J., Kloppel, G. <strong>Congenital absence of insulin cells in a neonate with diabetes mellitus and mutase-deficient methylmalonic acidaemia.</strong> Diabetologia 36: 352-357, 1993. Note: Erratum: Diabetologia 36: 1332 only, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8097481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8097481</a>] [<a href="https://doi.org/10.1007/BF00400240" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8097481">Blum et al. (1993)</a> described a newborn with congenital absence of the insulin-producing beta cells from otherwise normal-appearing pancreatic islets, causing insulin-dependent diabetes mellitus. The infant also had methylmalonic acidemia (<a href="/entry/251000">251000</a>) and died 16 days after birth. By serotyping of the HLA antigens, DNA typing of HLA-B and HLA class II loci, and study of polymorphic DNA markers of chromosome 6, <a href="#1" class="mim-tip-reference" title="Abramowicz, M. J., Andrien, M., Dupont, E., Dorchy, H., Parma, J., Duprez, L., Ledley, F. D., Courtens, W., Vamos, E. <strong>Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.</strong> J. Clin. Invest. 94: 418-421, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7913714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7913714</a>] [<a href="https://doi.org/10.1172/JCI117339" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7913714">Abramowicz et al. (1994)</a> demonstrated that the infant had paternal uniparental isodisomy involving at least a 25-cM portion of chromosome 6 that encompasses the MHC. The methylmalonic acidemia was easily explained by duplication of the mutant gene on chromosome 6 inherited from the carrier father. The agenesis of beta cells and consequent insulin-dependent diabetes mellitus suggested the existence of a gene on chromosome 6 involved in beta-cell differentiation. Permanent insulin-dependent diabetes mellitus is very rare in the neonatal period. <a href="#1" class="mim-tip-reference" title="Abramowicz, M. J., Andrien, M., Dupont, E., Dorchy, H., Parma, J., Duprez, L., Ledley, F. D., Courtens, W., Vamos, E. <strong>Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.</strong> J. Clin. Invest. 94: 418-421, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7913714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7913714</a>] [<a href="https://doi.org/10.1172/JCI117339" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7913714">Abramowicz et al. (1994)</a> stated that 31 well-documented cases had been published (see <a href="#3" class="mim-tip-reference" title="Dorchy, H., Ooms, H., Loeb, H. <strong>Permanent neonatal diabetes mellitus: a case report with plasma insulin studies.</strong> Z. Kinderheilk. 118: 271-281, 1974."None>Dorchy et al., 1974</a>). In most, the pathogenesis is unknown. A very early presentation of autoimmune destruction, which is the most common cause of insulin-dependent diabetes mellitus, had never been irrefutably demonstrated. Rare causes such as aplasia of the pancreas (<a href="/entry/260370">260370</a>, <a href="/entry/600001">600001</a>) and absence of the islets of Langerhans (<a href="/entry/304790">304790</a>) had been reported. <a href="#1" class="mim-tip-reference" title="Abramowicz, M. J., Andrien, M., Dupont, E., Dorchy, H., Parma, J., Duprez, L., Ledley, F. D., Courtens, W., Vamos, E. <strong>Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.</strong> J. Clin. Invest. 94: 418-421, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7913714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7913714</a>] [<a href="https://doi.org/10.1172/JCI117339" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7913714">Abramowicz et al. (1994)</a> stated that isolated absence of the beta cells had been shown in one case. Presumably, the disorder is an autosomal recessive. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7913714+8097481" 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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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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Abramowicz, M. J., Andrien, M., Dupont, E., Dorchy, H., Parma, J., Duprez, L., Ledley, F. D., Courtens, W., Vamos, E.
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<strong>Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.</strong>
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J. Clin. Invest. 94: 418-421, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7913714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7913714</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7913714" 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/10.1172/JCI117339" target="_blank">Full Text</a>]
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Blum, D., Dorchy, H., Mouraux, T., Vamos, E., Mardens, Y., Kumps, A., De Prez, C., Heimann, P., Fowler, B., Baumgartner, R., Bouwens, L., Van Gompel, J., Kloppel, G.
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<strong>Congenital absence of insulin cells in a neonate with diabetes mellitus and mutase-deficient methylmalonic acidaemia.</strong>
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Diabetologia 36: 352-357, 1993. Note: Erratum: Diabetologia 36: 1332 only, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8097481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8097481</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8097481" 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/BF00400240" target="_blank">Full Text</a>]
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Dorchy, H., Ooms, H., Loeb, H.
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<strong>Permanent neonatal diabetes mellitus: a case report with plasma insulin studies.</strong>
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Z. Kinderheilk. 118: 271-281, 1974.
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Creation Date:
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Victor A. McKusick : 8/26/1994
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terry : 11/29/2012
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terry : 4/7/2005<br>jamie : 12/18/1996<br>mimadm : 9/23/1995<br>terry : 8/26/1994
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600089
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PANCREATIC BETA CELL AGENESIS WITH NEONATAL DIABETES MELLITUS
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Cytogenetic location: 6p21.3
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?Diabetes mellitus, insulin-dependent, neonatal
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600089
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Autosomal recessive
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<p>Blum et al. (1993) described a newborn with congenital absence of the insulin-producing beta cells from otherwise normal-appearing pancreatic islets, causing insulin-dependent diabetes mellitus. The infant also had methylmalonic acidemia (251000) and died 16 days after birth. By serotyping of the HLA antigens, DNA typing of HLA-B and HLA class II loci, and study of polymorphic DNA markers of chromosome 6, Abramowicz et al. (1994) demonstrated that the infant had paternal uniparental isodisomy involving at least a 25-cM portion of chromosome 6 that encompasses the MHC. The methylmalonic acidemia was easily explained by duplication of the mutant gene on chromosome 6 inherited from the carrier father. The agenesis of beta cells and consequent insulin-dependent diabetes mellitus suggested the existence of a gene on chromosome 6 involved in beta-cell differentiation. Permanent insulin-dependent diabetes mellitus is very rare in the neonatal period. Abramowicz et al. (1994) stated that 31 well-documented cases had been published (see Dorchy et al., 1974). In most, the pathogenesis is unknown. A very early presentation of autoimmune destruction, which is the most common cause of insulin-dependent diabetes mellitus, had never been irrefutably demonstrated. Rare causes such as aplasia of the pancreas (260370, 600001) and absence of the islets of Langerhans (304790) had been reported. Abramowicz et al. (1994) stated that isolated absence of the beta cells had been shown in one case. Presumably, the disorder is an autosomal recessive. </p>
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<strong>REFERENCES</strong>
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Abramowicz, M. J., Andrien, M., Dupont, E., Dorchy, H., Parma, J., Duprez, L., Ledley, F. D., Courtens, W., Vamos, E.
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<strong>Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.</strong>
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J. Clin. Invest. 94: 418-421, 1994.
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[PubMed: 7913714]
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[Full Text: https://doi.org/10.1172/JCI117339]
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Blum, D., Dorchy, H., Mouraux, T., Vamos, E., Mardens, Y., Kumps, A., De Prez, C., Heimann, P., Fowler, B., Baumgartner, R., Bouwens, L., Van Gompel, J., Kloppel, G.
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<strong>Congenital absence of insulin cells in a neonate with diabetes mellitus and mutase-deficient methylmalonic acidaemia.</strong>
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Diabetologia 36: 352-357, 1993. Note: Erratum: Diabetologia 36: 1332 only, 1993.
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[PubMed: 8097481]
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[Full Text: https://doi.org/10.1007/BF00400240]
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Dorchy, H., Ooms, H., Loeb, H.
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<strong>Permanent neonatal diabetes mellitus: a case report with plasma insulin studies.</strong>
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Z. Kinderheilk. 118: 271-281, 1974.
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Victor A. McKusick : 8/26/1994
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